Articoli di riviste: "Polymorphisme social"

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Johal, Gurinder, e Adam Amlani. "Integrating Pharmacogenomics into Clinical Practice". University of Ottawa Journal of Medicine 6, n. 1 (11 maggio 2016): 21–23. http://dx.doi.org/10.18192/uojm.v6i1.1549.

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Pharmacogenomics has the potential to improve patient-centered care and lead to an overall decrease in healthcare costs. This would be achieved through fewer hospitalizations due to adverse drug reactions, individualized and effective therapies, and decreased drug development costs with single nucleotide polymorphism pre-screening. Although challenges do exist in encouraging the use of pharmacogenomics―specifically in regards to resources, regulation, and impacts on the pharmaceutical industry―the benefits may outweigh the costs in terms of patient health and safety. In implementing pharmacogenomics, various clinical, ethical, legal, social and economical factors must be considered. La pharmacogénomique aurait le potentiel de diminuer le coût des soins de santé et d’optimiser les soins primaires aux patients. Il serait possible d’y parvenir en réduisant les hospitalisations suite aux effets secondaires associés aux médicaments, en utilisant des thérapies individualisées plus efficaces et en diminuant le coût associé au développement de médicaments grâce au test de dépistage de polymorphisme d’un seul nucléotide. Malgré les défis associés à l’utilisation de la pharmacogénomique surtout sur le plan des ressources, de la régulation et de l’impact dans l’industrie pharmaceutique, les avantages en terme de santé et de sécurité sont à considérer. Plusieurs facteurs cliniques, éthiques, légaux, sociaux, et économiques doivent être pris en considération pour l’utilisation de la pharmacogénomique.

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Courtet, P. "Adversité sociale et troubles mentaux". European Psychiatry 29, S3 (novembre 2014): 629–30. http://dx.doi.org/10.1016/j.eurpsy.2014.09.131.

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Il est établi que les facteurs de risque sociaux jouent un rôle important dans la genèse et le maintien des troubles mentaux. Les modèles animaux nous indiquent que les expériences précoces d’adversité sociale peuvent avoir des effets à long terme à travers un « conditionnement biologique » et que le cerveau serait « modelé » par les facteurs environnementaux. En effet, des expériences sociales négatives très précoces peuvent avoir de profonds impacts durant les périodes de haute plasticité cérébrale lors de la vie prénatale et juste après la naissance. La recherche doit arriver à intégrer plusieurs niveaux d’organisation et déterminer les effets de l’adversité précoce sur le développement du cerveau en tentant d’expliquer comment ces expériences précoces affectent les voies moléculaires, cellulaires et biologiques conduisant à une vulnérabilité particulière. Comment les circonstances difficiles prénatales, périnatales et durant l’enfance sont « biologiquement intégrées » dans les systèmes génomiques moléculaires qui déterminent les expressions de la vulnérabilité ? Le paradigme actuel des interactions GèneXEnvironnement découle directement des travaux de A. Caspi sur les enfants victimes de maltraitance, en mettant en évidence le rôle de ces évènements dans l’apparition de troubles mentaux à l’âge adulte en fonction du polymorphisme génétique.Les phénomènes d’addiction, le suicide et la schizophrénie représentent des troubles complexes qui résultent d’interactions entre plusieurs facteurs psychologiques, sociaux, environnementaux, génétiques et neurobiologiques. Les facteurs sociaux et les expériences précoces d’adversité constituent des facteurs importants et reconnus de risque d’apparition de ces troubles. La question qui se pose alors est de savoir s’il est possible d’intégrer ces différents aspects au sein de modèles unifiés où les expériences précoces d’adversité et de stress social constitueraient une dimension commune et dont le rôle serait essentiel.

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Cardoso, Jessica Vilarinho, Daniel Escorsim Machado, Renato Ferrari, Mayara Calixto da Silva, Plínio Tostes Berardo e Jamila Alessandra Perini. "Polymorphisms in VEGF and KDR genes in the development of endometriosis: a systematic review". Revista Brasileira de Saúde Materno Infantil 16, n. 3 (settembre 2016): 219–32. http://dx.doi.org/10.1590/1806-93042016000300002.

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Abstract Objectives: to review studies that used case-control design to verify the association of polymorphisms in VEGF and KDR genes in the development of endometriosis. Methods: the systematic review selected articles published until September 1, 2015 from PubMed, MEDLINE, BVS, SciELO databases, considering the following key words: endometriosis and ("polymorphism" or "SNP" or "genetic polymorphism") and ("VEGF" OR "Vascular endothelial growth factor" or "VEGFR-2" or "Vascular endothelial growth factor-2" or "KDR" or "Kinase Insert Domain Receptor"). Results: 106 articles were identified, only 11 were eligible. Discrepant results were observed regarding polymorphisms in VEGF gene in the development of endometriosis, which can be explained by methodological differences, sample size, eligible control type, using the unadjusted risk estimates and the heterogeneity of the studied population. Only one study investigated polymorphisms in KDR gene in the development of endometriosis, however it was ineligible for this review. Conclusions: to avoid discrepancy in the results, we suggest that the ideal control group should be formed by fertile women and free of gynecological diseases. Multicentric studies with adequate design, involving different population besides the combined analysis on polymorphisms in VEGF and KDR genes are still necessary to contribute in the understanding of this disease, which are social, clinical and economical problems.

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Rył, Aleksandra, Natalia Tomska, Anna Jakubowska, Alicja Ogrodniczak, Joanna Palma e Iwona Rotter. "Genetic Aspects of Problematic and Risky Internet Use in Young Men—Analysis of ANKK1, DRD2 and NTRK3 Gene Polymorphism". Genes 15, n. 2 (27 gennaio 2024): 169. http://dx.doi.org/10.3390/genes15020169.

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Background: Internet addiction disorder (IAD) is characterized by an excess of uncontrolled preoccupations, urges, or behaviors related to computer use and Internet access that culminate in negative outcomes or individual distress. PIU includes excessive online activities (such as video gaming, social media use, streaming, pornography viewing, and shopping). The aim of this study was to analyze the association of gene polymorphisms that may influence the severity of risky behaviors in young men with the frequency of Internet use. We speculate that there are individual differences in the mechanisms of Internet addiction and that gene–hormone associations may represent useful biomarkers for subgroups of individuals. Materials and Methods: The study was conducted in a sample of 407 adult males. Subjects were asked to complete the Problematic Internet Use Test (PIUT). Serum was analyzed to determine concentrations of luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone (TT), sex hormone binding protein (SHBG), dehydroepiandrosterone sulfate (DHEA-S), estradiol (E2), prolactin (PRL), insulin (I), serotonin (5-HT), and dopamine (DA), as well as DRD2, ANKK1, and NTRK3 gene polymorphisms. Results: In the analysis of the ANKK1 gene, there was a specific association between ANKK1 polymorphisms and PRL and 5-HT blood concentrations. There was also an association between the ANKK1 polymorphisms and LH and DA concentrations. When analyzing the DRD2 gene polymorphism, we found that in the group with a moderate level of Internet dependence, there was an association between both the G/GG and GG/GG polymorphisms and FSH concentration. Conclusions: Our study found that there may be an association between the NTRK3 gene polymorphism and PIU. The polymorphisms of ANKK1 and DRD2 genes may be factors that influence the concentrations of hormones (PRL, 5-HT, DA) that are associated with the results obtained in PIU.

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M. khadhim, Manal, Ali T. AL-Damerchi e Meraim A. Kazaal. "Evaluation of A Disintegrin and Metalloprotein33 Gene Polymorphism in Bronchial Asthma". AL-QADISIYAH MEDICAL JOURNAL 11, n. 19 (24 luglio 2017): 1–9. http://dx.doi.org/10.28922/qmj.2015.11.19.1-9.

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Background: A disintegrin and metalloprotein 33 (ADAM33) gene is the first asthma candidate gene identified by positional cloning, may be associated with lung function decline and bronchial hyperresponsiveness. However, replication results have been inconclusive in smaller previous study populations probably due to inconsistence in asthma phenotypes or yet unknown environmental influences. This study aimed to further elucidate the role of ADAM33 polymorphisms (SNPs) in a genetic analysis of our case- control. Materials and methods: One polymorphic sites (V4) of ADAM33 gene was genotyped in 69 patients with bronchial asthma, and 20 healthy controls. Genotypes were determined by the polymerase chain restriction fragment length polymorphism (PCR-RFLP) method. Data were analyzed using the chi-square test and SPSS version 20 computer software (Statistical Package for Social Sciences) in association with Microsoft Excel 2010. Results: The single nucleotide polymorphisms V4 G/C, of the ADAM33 gene may be participate in the susceptibility of bronchial asthma in the Iraqi population. Conclusion: Although ADAM33-V4 polymorphism not associated with asthma in many population, our study confirmed significant correlation between ADAM33-V4 and asthma .

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Guo, Lei, Yanan Liu, Lijun Liu, Shixiu Shao, Yanwei Cao, Jiaming Guo e Haitao Niu. "The CYP19A1 (TTTA)n Repeat Polymorphism May Affect the Prostate Cancer Risk: Evidence from a Meta-Analysis". American Journal of Men's Health 15, n. 3 (maggio 2021): 155798832110170. http://dx.doi.org/10.1177/15579883211017033.

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Abnormal aromatase (CYP19A1) expression may participate in prostate cancer (PCa) carcinogenesis. However, the results of studies on the CYP19A1 gene polymorphisms and PCa are conflicting. This meta-analysis aimed to systematically evaluate the associations between the CYP19A1 Arg264Cys polymorphism and the (TTTA)n repeat polymorphism and PCa. Electronic databases (PubMed, EmBase, ScienceDirect, and Cochrane Library) were comprehensively searched to identify eligible studies. The strength of the association between the Arg264Cys polymorphism and PCa was assessed by pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) in allelic, dominant, recessive, homozygous, and heterozygous genetic models. To analyze the impact of the (TTTA)n repeat polymorphism, we sequentially took the N-repeat allele (where N equals 7,8,10,11,12, and 13) as the minor allele and the sum of all the other alleles as the major allele. The ORs and 95% CIs were calculated in the allelic model; this analysis was performed individually for each repeat number. Pooled estimates of nine studies addressing the Arg264Cys polymorphism indicated that this polymorphism was not associated with PCa risk in the overall population or in the Caucasian or Asian subgroups. The 8-repeat allele in the (TTTA)n repeat polymorphism increased PCa risk in the overall population (OR = 1.34, 95% CI = 1.14–1.58, p = .001) and in the subgroup with population-based (PB) controls (OR = 1.41, 95% CI = 1.13–1.74, p = .002) as well as in the subgroup using capillary electrophoresis to identify this polymorphism (OR = 1.34, 95% CI = 1.09–1.65, p = .006).The meta-analysis indicated that the CYP19A1 (TTTA)n repeat polymorphism, but not the Arg264Cys polymorphism, may affect PCa risk.

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Maliza, Rita, Lalu Muhammad Irham, Jaka Pradika, Kharisma Pratama, Haafizah Dania, Bramadi Arya e Dyah Aryani Perwitasari. "Genetic polymorphism and the risk of diabetic foot: a bibliometric analysis from 2011-2021". International Journal of Public Health Science (IJPHS) 12, n. 4 (1 dicembre 2023): 1744. http://dx.doi.org/10.11591/ijphs.v12i4.23028.

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Diabetic foot ulcer (DFU) has been associated with genetic and environmental factors, which could potentially have a role in DFU development. Single nucleotide polymorphisms (SNPs) in genes linked to DFU, including inflammation. Bibliometric studies on the SNP on genes affecting DFU still have not been evaluated. This study aims to depict bibliographically and understand the topic trend of genetic polymorphism and the risk of DFU publications. A bibliometric methodology was applied in this study. The data were extracted through the Scopus database from 2011 to 2021. VOS viewer was used to classify and summarize Scopus articles. The 35 articles were evaluated. India topped the list of countries with the most publications, and Tehran University of Medical Sciences was the primary institution. Singh K and his team were the first contributing authors with 44 citations. Keywords analysis indicated that the research hotspots were DFU, type 2 diabetes mellitus (T2DM), diabetic foot ulcers, polymorphisms, hypoxia, vascular endothelial growth factor (VEGF), diabetic foot, diabetes mellitus, and oxidative stress. This study summarizes the current state, trends in genetic polymorphism and risk with DFU research. It may provide researchers with insight into the genetic polymorphism and risk associated with DFU research, as well as useful information for identifying possible collaborators and partner institutions.

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Wang, Tzu-Yun, Sheng-Yu Lee, Yi-Lun Chung, Shiou-Lan Chen, Chia-Ling Li, Yun-Hsuan Chang, Liang-Jen Wang et al. "TPH1 and 5-HTTLPR Genes Specifically Interact in Opiate Dependence but Not in Alcohol Dependence". European Addiction Research 22, n. 4 (2016): 201–9. http://dx.doi.org/10.1159/000444676.

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Background: Different drug dependencies may have unique genetic vulnerabilities. Changes in serotonin availability and function have been linked to addiction. We investigated whether 2 serotonergic polymorphisms, TPH1 A218C (rs1800532) and 5-HTT-linked promoter region (5-HTTLPR) (rs25531), are differently associated with alcohol or opiate dependence. Methods: Alcohol-dependent patients (n = 292), opiate-dependent patients (n = 309), and healthy controls (n = 301) were recruited from the Han Chinese population in Taiwan. Genotypes of TPH1 A218C and 5-HTTLPR polymorphisms were analyzed using a polymerase chain reaction with restriction fragment length polymorphism. Results: The genotype frequencies of the TPH1 A218C polymorphisms were not significantly different in the 3 groups. The genotype frequencies of the 5-HTTLPR S+ (S/S, S/LG, LG/LG) polymorphisms were significantly higher in opiate-dependent patients (χ2 = 8.77, p = 0.01), but not after controlling for the covariates of age, gender, and interaction effect in logistic regression analysis. Moreover, there was a significant interaction between the TPH1 A218C A/C and 5-HTTLPR S+ gene polymorphisms in opiate-dependent (OR 2.72, p = 0.01), but not in alcohol-dependent patients. Conclusions: Our data suggested that there may be a differential genetic vulnerability in serotonergic genes for alcohol and opiate addiction. However, replications of our findings are still needed.

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Balko, Iva, Stefan Balko, Miroslav Petr, Josef Heidler, Lucie Benesova e Eva Kohlikova. "Associations between the occurrence of the ACTN3 R577X, ACE I/D, BDKRB2 +9/-9 polymorphisms and anaerobic performance among a group of elite fencers". Physical Activity Review 9, n. 2 (2021): 93–100. http://dx.doi.org/10.16926/par.2021.09.25.

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Introduction: This research aims to detect possible associations between the ACTN3 R577X, ACE I/D, BDKRB2 +9/-9 genetic polymorphisms, and selected anaerobic performance indicators among elite and sub-elite fencers. Methods: The sample of participants included a group of 20 fencers (males, age 25.5 ± 6.9 years; height 185.1 ± 5.8; weight 78.3 ± 9.8). We obtained genotype analysis for selected polymorphisms (ACTN3 R577X, ACE I/D, BDKRB2 +9/-9) through buccal swabs. 30-second Wingate test was used for the anaerobic performance where the following variables were monitored: the maximal anaerobic performance – Pmax [W], the anaerobic capacity – AnC [kJ], the total number of revolutions – TR [n], the peak blood lactate concentration – LApeak [mmol·l-1]. Results: Within ACTN3 R577X polymorphism, no differences were found in the observed variables between genotypes. However, ACE I/D heterozygotes reached higher Pmax, AnC, and LApeak values than homozygotes. Furthermore, BDKRB2 +9/-9 polymorphism homozygotes with -9 allele reached higher Pmax and AnC values than homozygotes with +9 allele. No statistical differences were found in all monitored variables between genotypes of monitored polymorphisms. Conclusions: The research findings might serve as another useful piece of knowledge related to the existing statements in the field of genetics, focusing on speed-strength performance problems. It should be highlighted that current studies are only the first steps in helping us better understand the associations between genetic factors and performance in sports.

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Vdovychenko, Yu P., N. O. Firsova e K. H. Khazhylenko. "Polymorphisms of hemostasis system genes in women with habitual miscarriage". HEALTH OF WOMAN, n. 8(144) (31 ottobre 2019): 36–40. http://dx.doi.org/10.15574/hw.2019.144.36.

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The objective: to evaluate the prevalence of hemostasis and folate cycle gene polymorphisms in patients with a history of miscarriage. Materials and methods. A survey was conducted of 125 women with habitual miscarriage who were in the first, main, group. The criteria for inclusion of patients in the study were the presence of two or more pregnancy losses in the anamnesis up to 22 weeks. The exclusion criteria were anatomical, endocrine, infectious, immunological, social causes of miscarriage, and the presence of benign uterine tumors and antiphospholipid syndrome. Group II (control) included 40 somatically healthy women, without reproductive losses, with a history of at least one physiological pregnancy. All women underwent a molecular genetic study of 8 hemostatic system genes and 4 folate cycle genes by a multiplex allele-specific polymerase chain reaction in real time. Results. As a result of the analysis in women with habitual miscarriage, statistically significantly more often revealed: homozygous polymorphism for the gene FGB 455G> A, ITGA2 (α2-integrin) C807T, both homo- and heterozygous forms, homozygous polymorphism 5GG75GG7575G > 4G – homo- and heterozygous forms, as well as polymorphism of MTHFR 677C> T and MTHFR 1298A> C genes. A statistically significant association of ITGA2 807C> T and PAI-1 675 5G> 4G polymorphisms was confirmed with more than six and sevenfold increased odds of habitual miscarriage (p=0.0002 and 0.0001, respectively). Carrying the mutant allele of the FGB 455G> A gene was associated with a 3.6-fold increase in the chances of reproductive loss. Multigenic forms of thrombophilia were detected in 109 (87.2%) women of the main group, which was 3.5 times higher than the corresponding indicators in the control group – 10 (25.0%); p <0.05. Conclusion. In order to prevent recurrent reproductive losses in patients with a history of pregnancy miscarriage, with the exception of other causes, it is necessary to carry out an examination for the presence of clotting and folate cycle polymorphisms. Detection of the carrier of mutant alleles in patients with pregnancy miscarriage will help to properly study the activity of certain parts of the hemostasis system, to adequately select therapy and to realize the reproductive function of a woman. Key words: habitual miscarriage, pregnancy polymorphism of hemostasis genes, folate cycle.

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Sitek, Aneta, Iwona Rosset, Dominik Strapagiel, Małgorzata Majewska, Lidia Ostrowska-Nawarycz e Elżbieta Żądzińska. "Association of FTO gene with obesity in Polish schoolchildren". Anthropological Review 77, n. 1 (1 gennaio 2014): 33–44. http://dx.doi.org/10.2478/anre-2014-0003.

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Abstract The goal of the study was verification of fat mass and obesity-associated (FTO) gene polymorphisms as significant risk factors of obesity in the population of Polish children. Body mass index (BMI) and DNA were evaluated, where DNA was extracted from saliva, collected from 213 children at the age of 6-13 years. DNA was genotyped by PCR (polymerase chain reaction) and HRM (high resolution melting) techniques, as well as by direct sequencing. Three (3) FTO polymorphisms were identified: rs9939609, rs9926289 and rs76804286, the last polymorphism located between the first two. For the first time, absolute linkage disequilibrium (LD) of FTO gene rs9939609 and rs9926289 polymorphisms was confirmed in data for the Polish population (D’=1, r2=1). The lack of a complete dependence among the three single nucleotide polymorphisms (SNPs) of the FTO gene was a consequence of the concurrence of homozygotes with minor alleles A of rs9939609+rs9926289 of FTO (AA+AA) with major alleles of rs76804286 (GG). A case-control association analysis for BMI in obese children (n=51), as compared to normal-weight children (n=162), was based on the effects of genotypes homozygous for the minor alleles of the studied SNPs in recessive and codominant inheritance models (assuming an independent effect of each genotype). A comparison of children with normal BMI with obese children indicate a strong co-dominant effect of a genotype in homozygotes of minor alleles (AA+AA) of completely linked rs9939609+rs9926289 (OR at age 8.89 ± 1.54 years=4.87, 95% CI 1.81-13.12, p=0.002). An almost five-fold increase of obesity risk in the examined children indicates that the genetic factors, associated with excessive body weight gain, exert stronger effects in the early period of ontogenetic development vs. puberty and adulthood. The role of genetic factors in predisposing to obesity declines with age

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Kalyoncu, Tuğba, Burcu Özbaran, Sezen Köse e Hüseyin Onay. "Variation in the Oxytocin Receptor Gene Is Associated With Social Cognition and ADHD". Journal of Attention Disorders 23, n. 7 (6 maggio 2017): 702–11. http://dx.doi.org/10.1177/1087054717706757.

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Objective: Children with ADHD show substantial deficits in social cognitive abilities. Oxytocin, mediated through its specific receptor (OXTR), is involved in the regulation of social behavior and social cognition. Method: The entire coding sequence of the human OXT and OXTR genes were sequenced to identify mutations and single nucleotide polymorphisms (SNPs) in 151 children with ADHD (ADHD-combined, n = 51; inattentive subtype, n = 50; ADHD-C plus conduct disorder [CD], n = 50; 11-18 years) and 100 healthy controls. Results: We examined the association of three detected SNPs of OXTR with social cognition deficits. A significant association was shown between the children with ADHD and children with CT/TT genotypes of rs4686302 (χ2 = 3.695; p = .037). ADHD children with CT/TT genotype for the OXTR rs4686302 performed significantly lower on the facial emotion recognition task than those with CC genotype. Conclusion: OXTR rs4686302 polymorphism was shown to be a genetic marker in social cognition deficits in ADHD children.

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Poulin, Michael J., E. Alison Holman e Anneke Buffone. "The Neurogenetics of Nice". Psychological Science 23, n. 5 (28 marzo 2012): 446–52. http://dx.doi.org/10.1177/0956797611428471.

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Oxytocin, vasopressin, and their receptor genes influence prosocial behavior in the laboratory and in the context of close relationships. These peptides may also promote social engagement following threat. However, the scope of their prosocial effects is unknown. We examined oxytocin receptor ( OXTR) polymorphism rs53576, as well as vasopressin receptor 1a ( AVPR1a) polymorphisms rs1 and rs3 in a national sample of U.S. residents ( n = 348). These polymorphisms interacted with perceived threat to predict engagement in volunteer work or charitable activities and commitment to civic duty. Specifically, greater perceived threat predicted engagement in fewer charitable activities for individuals with A/A and A/G genotypes of OXTR rs53576, but not for G/G individuals. Similarly, greater perceived threat predicted lower commitment to civic duty for individuals with one or two short alleles for AVPR1a rs1, but not for individuals with only long alleles. Oxytocin, vasopressin, and their receptor genes may significantly influence prosocial behavior and may lie at the core of the caregiving behavioral system.

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Bezerra, Diego de Aragão Bezerra De Aragão, José Juvenal Linhares, Emmanuelle Coelho Noronha, Kaio César Simiano Tavares, André Saraiva Leão Marcelo Antunes, Regina Freitas Coelho e Marcos Vinícius Souza Marques. "Association of the ABCB1 C3435T gene polymorphism (SNPs) with the response to neoadjuvant chemotherapy in women with breast cancer in northeastern Brazil". Revista de Ciências Médicas e Biológicas 19, n. 2 (24 settembre 2020): 305. http://dx.doi.org/10.9771/cmbio.v19i2.34890.

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Introduction: breast cancer (BC) is the most common tumor and the leading cause of cancer-related death among the female population worldwide. Polymorphisms genetics of ABCB1 gene contributed to breast cancer susceptibility and interindividual differences in chemotherapy response. Objectives: to evaluate the association between the ABCB1 C3435T gene polymorphism (SNPs) with the response to neoadjuvant chemotherapy in women with breast cancer. Methodology: this study included 32 female patients who received neoadjuvant chemotherapy. The polymorphisms were genotyped through real-time allele-specific polymerase chain reaction (PCR). The statistical analysis was performed using the Fisher’s exact test or Pearson’s chi-square test in the Statistical Package for Social Sciences (SPSS) version 20.0 software. Results: the genotypes found for the C3435T polymorphism were in Hardy-Weinberg equilibrium and their genotypic distributions were CC= 10 (31.1%), CT= 14 (43.8%), and TT= 08 (25.0%) with χ2: 0.86 and p-value > 0.05. Allele frequencies were C = 0.54 and T = 0.46. There were no significant statistical differences between genotypes considering the response to neoadjuvant chemotherapy and immunohistochemistry; the presence of the T allele was associated with worsen axillary status response to neoadjuvant chemotherapy. Conclusion: no definite association between the presence of C3435T polymorphism and the response to neoadjuvant chemotherapy was observed. Further studies in Brazil involving larger samples will contribute to validating the results of this study.

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Camperio Ciani, Andrea S., Shany Edelman e Richard P. Ebstein. "The Dopamine D4 Receptor (DRD4) Exon 3 VNTR Contributes to Adaptive Personality Differences in an Italian Small Island Population". European Journal of Personality 27, n. 6 (novembre 2013): 593–604. http://dx.doi.org/10.1002/per.1917.

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The search for evolutionary forces shaping the diversity of human personality traits encouraged studies that have found that islanders are relatively closed and introverted, with little interest in the external world. The ‘personality gene flow’ hypothesis was proposed to explain the mechanism underlying this difference, suggesting that the frequency of alleles that influence islander personality traits might progressively increase in the gene pools on islands because of selective emigration of individuals not displaying these alleles. We genotyped 96 individuals from the Italian mainland and 117 from Giglio Island, whose residents were previously assessed regarding their personality traits. We genotyped three polymorphisms: the dopamine D4 receptor (DRD4) exon 3 repeat region, the serotonin–transporter SLC6A4 5–HTTLPR indel and the dopamine transporter SLC6A3 DAT1 3′UTR repeat region. Only the DRD4 exon 3 repeat was hypothesised to show varying allele frequencies because this polymorphism could be associated with human migration and personality traits such as extraversion, openness and novelty seeking. As predicted, no differences in allele frequencies were found for the SLC6A4 and SLC6A3 polymorphisms, whereas significant differences were observed in the frequency of the DRD4 exon 3 alleles. The DRD4.2 repeat was more common in mainlanders, as expected, whereas the DRD4.7 allele was over–represented among islanders who never emigrated. This last result contradicts the suggested association of this allele with long–distance migrations. We suggest that emigration might have caused gene flow out the island that resulted in somewhat unpredictable changes in the frequencies of specific alleles, thus influencing islander personality traits. Copyright © 2013 European Association of Personality Psychology

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Mikhailova, V., M. Alfimova, T. Lezheiko, M. Gabaeva, V. Plakunova e V. Golimbet. "The impact of the oxytocin receptor gene (OXTR) on facial affect recognition in psychosis". European Psychiatry 65, S1 (giugno 2022): S197. http://dx.doi.org/10.1192/j.eurpsy.2022.518.

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Introduction Oxytocin is considered as potential treatment targeting social dysfunctions in psychoses. However, results of clinical trials are inconsistent which may be due to genetic variation in the oxytocin system involved in social information processing. Objectives To examine the effect of the OXTR polymorphism and its interaction with childhood adversity (CA) on facial affect recognition (FAR) in psychotic patients. Methods Patients with schizophrenic and affective psychotic disorders (n=934) completed a task that required labeling six basic and three social emotions. The polymorphisms rs53576 and rs7632287 within the OXTR locus were genotyped and dichotomized based on prior research. For 65% of the sample, information on CA defined as parental alcoholism or psychiatric illness was collected. The polymorphisms’ role in FAR was assessed using ANCOVAs adjusted for sex, age, and diagnosis. Results After Bonferroni correction, there was a significant effect of rs53576, mainly driven by the difference between genotypes in the affective patients. GG-homozygotes recognized emotions better than A-allele carriers. A nominally significant effect in the expected direction was also found for rs7632287. CA influenced FAR but did not interact with any genotype. Conclusions The results provide further evidence that OXTR impacts social cognition and behavior in diverse cohorts, including psychotic patients, with rs53576 GG-homozygotes having enhanced social competencies. However, we have failed to confirm that OXTR modulates the relations between CA and FAR in psychosis. The difference in FAR between genotypes was more pronounced in affective patients, which might be due to more severe FAR deficits in schizophrenia. Disclosure No significant relationships.

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EVANS, J., B. REEVES, H. PLATT, A. LEIBENAU, D. GOLDMAN, K. JEFFERSON e D. NUTT. "Impulsiveness, serotonin genes and repetition of deliberate self-harm (DSH)". Psychological Medicine 30, n. 6 (novembre 2000): 1327–34. http://dx.doi.org/10.1017/s0033291799002822.

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Background. Few studies have investigated independent associations of psychological, biological and social variables with repeated deliberate self-harm (DSH). Serotonin function has been linked to impulsive and suicidal behaviour and genetic polymorphisms have been identified within the serotonin system that could account for this link. This study tested hypotheses linking impulsiveness, genetic polymorphisms of tryptophan hydroxylase (TPH) and the 5-HT2c receptor and repeated DSH.Methods. Individuals presenting after DSH were interviewed, completed personality questionnaires and gave venous blood samples. Genotypes were determined for TPH intron7 and 5-HT2c (cys-ser) polymorphisms. Follow-up to identify repetition of DSH was for 1 year.Results. Males with the 5-HT2c serine variant were more impulsive than those with the cysteine variant (0·39 standardized units, P = 0·041, 95% CI 0·017 to 0·076). There was no association between impulsiveness and the TPH intron7 polymorphism overall but a weak association with the L allele in men (0·41 standardized units, P = 0·05, 95% CI 0·001 to 0·82). Impulsiveness, although high in the group as a whole, did not distinguish those who repeated DSH.Conclusions. The personality trait of impulsiveness may in part be related to genotypes of the 5-HT2c receptor and TPH gene in men. Impulsiveness does not differ between those who do and do not repeat DSH.

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Wilczyński, Krzysztof M., Aleksandra Stasik, Lena Cichoń, Aleksandra Auguściak-Duma e Małgorzata Janas-Kozik. "Polymorphisms in Oxytocin and Vasopressin Receptor Genes as a Factor Shaping the Clinical Picture and the Risk of ASD in Males". Brain Sciences 13, n. 4 (20 aprile 2023): 689. http://dx.doi.org/10.3390/brainsci13040689.

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Autism spectrum disorders (ASD) are a heterogeneous group of disorders affecting virtually every population, regardless of their ethnic or socioeconomic background. Their pathogenesis is multifactorial, based on interactions between genetic and environmental factors. The key symptom of ASD are deficits in social communication, which are the basis of many difficulties in everyday functioning. The aim of the presented study was to analyze the clinical picture of social cognition deficits in boys with autism spectrum disorders and to relate its elements with the frequency of alleles of selected polymorphisms within the oxytocin receptor (OXTR) and vasopressin receptor 1A (AVPR1A) genes. The study included 58 boys with IQ > 90, who were divided into two groups based on a confirmed or excluded ASD diagnosis based on the DSM-5 and ICD-10 criteria and then using the ADOS-2 protocol. The results indicated that polymorphism rs10877969 (T) within the AVPR1a gene was the only one to show a statistically significant association with a higher risk of autism spectrum disorders and has an impact on clinical presentation in the ADOS-2 study, primarily in terms of the social affect subscale. Polymorphisms in the OXTR gene showed no significant association with ASD risk and severity of autistic traits in the ADOS-2 study. In the group of people with ASD and those who are neurotypical, the rs53572 (A) genotype in the OXTR gene significantly increased the severity of the clinical picture of social cognition disorders in reading mind in the eyes test (RMiE) and empathy quotient (EQ) studies.

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Smearman, Erica L., D. Anne Winiarski, Patricia A. Brennan, Jake Najman e Katrina C. Johnson. "Social stress and the oxytocin receptor gene interact to predict antisocial behavior in an at-risk cohort". Development and Psychopathology 27, n. 1 (8 luglio 2014): 309–18. http://dx.doi.org/10.1017/s0954579414000649.

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AbstractPolymorphisms in the oxytocin receptor gene are commonly associated with prosocial behaviors in the extant literature, yet their role in antisocial behaviors has rarely been explored, particularly during the transition from adolescence to early adulthood. We examined a prospective cohort (N = 404), collecting youth, mother, and clinician reports of conduct-disordered and antisocial behavior at ages 15 and 20. The oxytocin receptor gene rs53576 polymorphism was hypothesized to interact with social stress to predict antisocial outcomes. Structural equation modeling results revealed a significant main effect at age 15 (p = .025); those with the G allele exhibited higher levels of conduct problems. Structural equation modeling revealed a significant Gene × Environment interaction at age 20 (p = .029); those with the G allele who experienced high social stress exhibited higher levels of antisocial behavior. Heterozygous (AG) grouping models were compared, and parameter estimations supported G dominant groupings. These novel findings suggest that rs53576 polymorphisms may influence social salience and contribute to risk for antisocial outcomes, particularly under conditions of high social stress.

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Procyshyn, Tanya L., Jason Spence, Silven Read, Neil V. Watson e Bernard J. Crespi. "The Williams syndrome prosociality gene GTF2I mediates oxytocin reactivity and social anxiety in a healthy population". Biology Letters 13, n. 4 (aprile 2017): 20170051. http://dx.doi.org/10.1098/rsbl.2017.0051.

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The neurohormone oxytocin plays a central role in human social behaviour and cognition, and oxytocin dysregulation may contribute to psychiatric disorders. However, genetic factors influencing individual variation in the oxytocinergic system remain poorly understood. We genotyped 169 healthy adults for a functional polymorphism in GTF2I ( general transcription factor II-I ), a gene associated with high prosociality and reduced social anxiety in Williams syndrome, a condition reported to involve high oxytocin levels and reactivity. Participants’ salivary oxytocin levels were measured before and after watching a validated empathy-inducing video. Oxytocin reactivity, defined as pre- to post-video percentage change in salivary oxytocin, varied substantially and significantly between individuals with different GTF2I genotypes, with, additionally, a trend towards an interaction between genotype and sex. Individuals with more oxytocin-reactive genotypes also reported significantly lower social anxiety. These findings suggest a model whereby GTF2I has a continuum of effects on human sociality, from the extreme social phenotypes and oxytocin dysregulation associated with gene deletion in Williams syndrome, to individual differences in oxytocin reactivity and sociality associated with common polymorphisms in healthy populations.

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Paderina, Diana Z., Anastasiia S. Boiko, Ivan V. Pozhidaev, Irina A. Mednova, Anastasia A. Goncharova, Anna V. Bocharova, Olga Yu Fedorenko et al. "The Gender-Specific Association of DRD2 Polymorphism with Metabolic Syndrome in Patients with Schizophrenia". Genes 13, n. 8 (23 luglio 2022): 1312. http://dx.doi.org/10.3390/genes13081312.

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Background: Metabolic syndrome is widespread in patients with schizophrenia receiving long-term antipsychotic therapy. Dopamine D2 receptors play an important role in mediating both the therapeutic actions of antipsychotics and their side effects. The present study examined the association of two polymorphisms of the DRD2 gene with metabolic syndrome in patients with schizophrenia. Methods: We examined 517 patients from several regions of Siberia (Russia) with a clinical diagnosis of schizophrenia. Genotyping of two single nucleotide polymorphisms rs1799732 and rs4436578 of the dopamine D2 receptor gene (DRD2) was performed in a population of 471 patients. The results were analyzed using chi-square tests. Results: Functional polymorphism rs1799732 of the DRD2 gene is associated with drug-induced metabolic syndrome in women with schizophrenia. Conclusions: Our results show that the DRD2 gene may be involved in the pathogenesis of metabolic disorders in patients with schizophrenia. Further analysis of possible genetic markers will allow for personalized treatment with minimal side effects and optimal efficacy. This which seems relevant in light of the recent focus on improving the quality of life and ensuring a high level of social adaptation of patients with schizophrenia.

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Kulikov, Evgeny, Sergey Mertsalov e Vladimir Grigorenko. "Genetic status of patients with colorectal cancer". Problems in oncology 67, n. 3 (6 luglio 2021): 332–37. http://dx.doi.org/10.37469/0507-3758-2021-67-3-332-337.

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Colorectal cancer remains one of the most common tumors. In the structure of cancer mortality in Russia, tumors of this localization occupy the second place among persons of both sexes, giving way to the cancer of the trachea and bronchi in men, and breast cancer in women, respectively. Despite modern diagnostic methods and approaches to treatment, the problem of colorectal cancer remains acute due to increasing morbidity throughout the world, and recently there has been a downward trend in the average age of patients, which increases the social significance of the problem. According to the modern concept of carcinogenesis, assessment of the influence of genetic factors on the development of tumors of this localization looks very promising. Research aimed at finding a connection between genetic markers, single-nucleotide polymorphisms of genes and their contribution to the problem of colorectal cancer is one of the most studied directions in modern oncology. In this review, the work done related to the role of gene polymorphisms in the development and therapy of colorectal cancer was evaluated. The works were searched for in the databases of PubMed and Cyber Leninka. The known data about some genes participating in different processes of human organism are given. The data on sensitization and protective effects of polymorphisms of genes, the effect of polymorphisms on the result of treatment of colorectal cancer are presented. The necessity of further work in this direction in order to search for genetic markers and the possibility of implementing the definition of gene polymorphism in clinical practice for personalization of treatment of patients with colorectal cancer are discussed.

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Sohail, Anam, Adina Arshad, Tamjeed Tariq, Ayesha Bibi, Shaista Aslam e Muhammad Irfan. "Role of MDR1 Gene Polymorphisms in Human Male Infertility: A Meta-Analysis". American Journal of Men's Health 17, n. 2 (marzo 2023): 155798832311666. http://dx.doi.org/10.1177/15579883231166645.

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The present meta-analysis is performed to determine the association of C1236T and C3435T polymorphisms in the MDR1 gene. Google Scholar, PubMed, and Science Direct were searched. A total of 47 studies were retrieved, of which only three case–control studies, consisting of 490 cases and 423 controls, met the selection criteria. Odds ratios (ORs) for MDR1 C1236T were as follows: Allelic model (T vs. C): OR = 1.06 [0.83, 1.35]; Additive model (TT vs. CC): OR = 0.91 [0.53, 1.56]; Dominant model (TT+CT vs. CC): OR = 0.83 [0.55, 1.24]; and Recessive model (TT vs. CT+CC): OR = 1.43 [0.95, 2.17]. However, for MDR1 C3435T: Allelic model (T vs. C): OR = 1.06 [0.83, 1.35]; Additive model (TT vs. CC): OR = 1.18 [0.75, 1.88]; Dominant model (TT+CT vs. CC): OR = 1.42 [0.99, 2.04]; and Recessive model (TT vs. CT+CC): OR = 0.90 [0.61, 1.33]. None of the four models presented a significant association of either polymorphism with the risk of infertility in men ( p >.05). The present study indicates that MDR1 gene polymorphisms might not be a risk factor for male infertility. Further studies with a larger sample size are needed to be conducted to confirm the findings of the present study.

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Kulikov, Alexey N., Sergey V. Churashov, Tatiana A. Kamilova e Vladimir A. Reituzov. "Molecular genetic aspects of keratoconus pathogenesis". Ophthalmology journal 10, n. 2 (15 maggio 2017): 62–71. http://dx.doi.org/10.17816/ov10262-71.

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Keratoconus is a bilateral, progressive corneal disease affecting all ethnic groups around the world. It is one of the major ocular problems with significant social impacts as the disease affects young generation, and is the leading cause of corneal transplantation. Although keratoconus is associated with genetic and environmental factors, its precise etiology is not yet established. Results from complex segregation analysis and patterns of gene expression show that genetic abnormalities may play an essential role in the susceptibility to keratoconus. There is a strong association between the polymorphism of a number of genes and corneal curvature. These polymorphisms explain only a small percentage of keratoconus cases, so genetic influences on keratoconus are most likely complex and varied. The aim of this review is to briefly provide the current knowledge on the genetic keratoconus basis - to understand the disease pathogenesis.

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Wilczyński, K. M., A. Auguściak-Duma, A. Stasik, L. Cichoń, A. Sieroń e M. Janas-Kozik. "The role of single nucleotide polymorphisms within genes for oxytocin and vasopressin receptors in the presentation and severity of autistic traits". European Psychiatry 66, S1 (marzo 2023): S102. http://dx.doi.org/10.1192/j.eurpsy.2023.288.

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Abstract (sommario):

IntroductionAutism spectrum disorder is a heterogeneous group of disorders that affects virtually every population, regardless of their ethnic or socioeconomic origin. The pathogenesis of ASD is probably multifactorial, based on interactions between genetic and environmental factors. Their key elements are disorders in the field of social communication, establishing and maintaining relationships and the so-called stereotypical and repetitive patterns of interests and activities. However, of the above- mentioned symptoms, the most important are communication disorders, which are the basis for many of the functional difficulties observed in these patients.ObjectivesThe aim of the presented study was to analyze the clinical picture of social cognition deficits in males with autism spectrum disorders, and to link its elements with the frequency of alleles of selected polymorphisms within the OXTR and AVPR1A genes.MethodsThe study included 132 people, 77.5% of whom were male (n = 100). 113 participants (85.6%) were diagnosed with autism spectrum disorders confirmed by the ADOS-2 test conducted by a certified diagnostician. In this group, men constituted 76.1% of the population (n = 77). The remaining 28 people did not have a diagnosis of autism spectrum disorders, and in the ADOS-2 study they obtained the result below the cut-off level. The mean age in the whole group was 14.4 years (95% CI: 13.92-14.93).ResultsA higher frequency of the rs53576 A allele and the rs10877969 C allele could be observed than expected on the basis of the European / world population. In the case of the rs7294536 and rs2254298 polymorphisms, no differences in the distribution of alleles in relation to the expected values were observed. In the network analysis reference allele (T) of SNPs rs10877969 was linked to the higher outcome of the “social affect” domain of ADOS-2 and through it influenced ADOS-2 outcome. All other SNPs did not significantly affect neither domain of ADOS-2. Reference allele (A) of rs53576 was linked with higher odds ratio of clinical diagnosis of ASD in logistic regression. Similarly the rs10877969 polymorphism within the AVPR1a gene significantly shaped the risk of autism spectrum disorders, while in the combined analysis with rs7294536 within the haplotype, the observed effect was significantly stronger.ConclusionsThe studied polymorphisms may constitute an element of larger haplotypes which, depending on the number of mutated alleles, may determine the severity of autism spectrum traits, from the neurotypical population, through people with a broad autism phenotype, to people diagnosed with ASD. Further research is required on the potential clinical application of genotype analysis of the studied polymorphisms and on the exact mechanism of their impact on the risk of ASD and the development of social cognition disorders.Disclosure of InterestNone Declared

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Birjan, Zahra, Khalil Khashei Varnamkhasti, Sara Parhoudeh, Leila Naeimi e Sirous Naeimi. "Crucial Role of Foxp3 Gene Expression and Mutation in Systemic Lupus Erythematosus, Inferred from Computational and Experimental Approaches". Diagnostics 13, n. 22 (14 novembre 2023): 3442. http://dx.doi.org/10.3390/diagnostics13223442.

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The impaired suppressive function of regulatory T cells is well-understood in systemic lupus erythematosus. This is likely due to changes in Foxp3 expression that are crucial for regulatory T-cell stability and function. There are a few reports on the correlation between the Foxp3 altered expression level and single-nucleotide polymorphisms within the Foxp3 locus. Moreover, some studies showed the importance of Foxp3 expression in the same diseases. Therefore, to explore the possible effects of single-nucleotide polymorphisms, here, we evaluated the association of IVS9+459/rs2280883 (T>C) and −2383/rs3761549 (C>T) Foxp3 polymorphisms with systemic lupus erythematosus. Moreover, through machine-learning and deep-learning methods, we assessed the connection of the expression level of the gene with the disease. Single-nucleotide polymorphisms of Foxp3 (IVS9+459/rs2280883 (T>C) and −2383/rs3761549 (C>T)) were, respectively, genotyped using allele-specific PCR and direct sequencing and polymerase chain reaction-restriction fragment length polymorphism, in 199 systemic lupus erythematosus patients and 206 healthy age- and sex-matched controls. The Statistical Package for the Social Sciences version 19 and Fisher’s exact and chi-square tests were used to analyze the data. Moreover, six machine-learning models and two sequential deep-learning models were designed to classify patients from normal people in the E-MTAB-11191 dataset through the expression level of Foxp3 and its correlated genes. The allele and genotype frequencies of both polymorphisms in question were found to be significantly associated with an increased risk of systemic lupus erythematosus. Furthermore, both of the two single-nucleotide polymorphisms were associated with some systemic-lupus-erythematosus-related risk factors. Three SVM models and the logistic regression model showed an 81% accuracy in classification problems. In addition, the first deep-learning model showed an 83% and 89% accuracy for the training and validation data, respectively, while the second model had an 85% and 79% accuracy for the training and validation datasets. In this study, we are prompted to represent the predisposing loci for systemic lupus erythematosus pathogenesis and strived to provide evidence-based support to the application of machine learning for the identification of systemic lupus erythematosus. It is predicted that the recruiting of machine-learning algorithms with the simultaneous measurement of the applied single nucleotide polymorphisms will increased the diagnostic accuracy of systemic lupus erythematosus, which will be very helpful in providing sufficient predictive value about individual subjects with systemic lupus erythematosus.

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Kinnally, Erin L., Genesio M. Karere, Leslie A. Lyons, Sally P. Mendoza, William A. Mason e John P. Capitanio. "Serotonin pathway gene–gene and gene–environment interactions influence behavioral stress response in infant rhesus macaques". Development and Psychopathology 22, n. 1 (26 gennaio 2010): 35–44. http://dx.doi.org/10.1017/s0954579409990241.

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AbstractA subset of serotonin (5-HT) pathway polymorphisms has been shown to confer risk for psychological dysfunction, particularly in individuals who experience early adversity. Understanding the developmental processes underlying these Gene × Environment interactions will strengthen the search for risk factors for behavioral dysfunction. We investigated the combined influence of two serotonin pathway polymorphisms and species-atypical, and possibly adverse, rearing (nursery rearing [NR]) on two dimensions of behavioral stress response in infant rhesus macaques. We hypothesized that the experience of NR and possession of both “high-risk” genotypes (genotypes that are thought to confer low 5-HT function) would predict the greatest behavioral stress response to maternal/social separation. Using a matched-pair design, the impact of early experience and the serotonin transporter (rh5-HTTLPR) and monoamine oxidase A (rhMAO-A-LPR) promoter polymorphisms on behavioral reactivity of 136 infant rhesus macaques (90–120 days of age) during a 25-hr social separation/relocation procedure was assessed. Each pair included one infant reared with mother in a large, outdoor field enclosure (field rearing) and one infant reared in a nursery (NR). Pairs were matched for putative gene activity of each polymorphism, sex, age, and weight at testing. Behavioral responses in a “human intruder” test were recorded, and activity and emotional reactivity composites were created to detect different aspects of psychological adaptation to stress. Our hypothesis that high-risk groups would be the most reactive to stress was not entirely borne out. Rh5-HTTLPR × rhMAOA-LPR interactions predicted emotional reactivity and tended to predict behavioral activity scores. Carriers of the two “low-risk” alleles exhibited the lowest behavioral activity, as might be predicted, but carriers of both “high-risk” alleles were two of four genotype groups exhibiting the highest observed Emotional Reactivity. Gene × Gene interactions were exacerbated by the experience of nursery rearing, as predicted, however. Finally, we suggest that genetic or environmental factors may mitigate the risk for behavioral dysregulation illustrated in the patterns of behavioral activity and emotional reactivity displayed by infants.

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Erkal, Burcin, Aysel Kalayci Yigin, Sukru Palanduz, Selcuk Dasdemir e Mehmet Seven. "The Effect of PAI-1 Gene Variants and PAI-1 Plasma Levels on Development of Thrombophilia in Patients With Klinefelter Syndrome". American Journal of Men's Health 12, n. 6 (18 ottobre 2018): 2152–56. http://dx.doi.org/10.1177/1557988318801158.

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Klinefelter syndrome (KS) is a common sex chromosome-related abnormality seen among men. KS negatively affects spermatogenesis and testosterone production. It increases the risk of thrombosis but its molecular mechanism has not been well described yet. Elevated PAI-1 is a risk factor for thrombosis. The rs1799889 polymorphism located in the promoter region of the PAI-1 gene was detected in patients with deep venous thrombosis. In this study, the PAI-1 gene variant and its plasma levels in KS patients were examined. Forty-one KS patients (47, XXY) and 50 age-matched healthy controls participated. DNA was isolated from peripheral blood and a real-time PCR method was used to detect known SNPs in the PAI-1 gene. In addition, PAI-1 plasma levels were measured by using ELISA method. There was no significant difference between PAI-1 gene polymorphisms of KS patients and controls ( p > .05). The significant difference was observed in PAI-1 plasma levels between two groups (high PAI-1 plasma level in KS patients compared to controls). The patients’ group mean was 55.13 and control group mean in PAI-1 level was 29.89 ng/ml ( p = .020). Clinical features related to thromboembolism especially varicose veins were detected in KS patients frequently ( p = .04). These results suggest that thromboembolism related to clinical features is seen more frequently in cases with KS, but it may not be dependent only on the PAI-1 gene polymorphism structure.

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Carver, Charles S., Sheri L. Johnson e Youngmee Kim. "Mu opioid receptor polymorphism, early social adversity, and social traits". Social Neuroscience 11, n. 5 (24 novembre 2015): 515–24. http://dx.doi.org/10.1080/17470919.2015.1114965.

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Balakrishnan, Christopher N., Charles Chapus, Michael S. Brewer e David F. Clayton. "Brain transcriptome of the violet-eared waxbill Uraeginthus granatina and recent evolution in the songbird genome". Open Biology 3, n. 9 (settembre 2013): 130063. http://dx.doi.org/10.1098/rsob.130063.

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Abstract (sommario):

Songbirds are important models for the study of social behaviour and communication. To complement the recent genome sequencing of the domesticated zebra finch, we sequenced the brain transcriptome of a closely related songbird species, the violet-eared waxbill ( Uraeginthus granatina ) . Both the zebra finch and violet-eared waxbill are members of the family Estrildidae, but differ markedly in their social behaviour. Using Roche 454 RNA sequencing, we generated an assembly and annotation of 11 084 waxbill orthologues of 17 475 zebra finch genes (64%), with an average transcript length of 1555 bp. We also identified 5985 single nucleotide polymorphisms (SNPs) of potential utility for future population genomic studies. Comparing the two species, we found evidence for rapid protein evolution ( ω ) and low polymorphism of the avian Z sex chromosome, consistent with prior studies of more divergent avian species. An intriguing outlier was putative chromosome 4A, which showed a high density of SNPs and low evolutionary rate relative to other chromosomes. Genome-wide ω was identical in zebra finch and violet-eared waxbill lineages, suggesting a similar demographic history with efficient purifying natural selection. Further comparisons of these and other estrildid finches may provide insights into the evolutionary neurogenomics of social behaviour.

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Estrada-Velasco, B. I., M. Cruz, V. Madrid-Marina, G. A. Martínez-Nava, J. Gomez-Zamudio e A. I. Burguete-García. "IRS1,TCF7L2,ADRB1,PPARG, andHHEXPolymorphisms Associated with Atherogenic Risk in Mexican Population". BioMed Research International 2013 (2013): 1–7. http://dx.doi.org/10.1155/2013/394523.

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Abstract (sommario):

Objective. We aimed to explore the association between polymorphisms ofIRS1(rs1801278),TCF7L2(rs7903146 and rs12255372),ADRB1(rs1801253),PPARG(rs1801282), andHHEX(rs5015480) genes with atherogenic risk (AI = Total cholesterol/HDL) in MetS, T2D, and healthy populations from the Mexican Social Security Institute.Methodology and Results. Four hundred thirty-five MetS, 517 T2D, and 547 healthy individuals were selected. The association between the SNPs and the atherogenic index was evaluated by multiple linear regression and multinomial logistic regression models. TheADRB1gene showed a statistically significant association with high-risk atherogenic index,OR=2.94(IC 95% 1.64–5.24;P<0.0001) for the Arg/Gly variant, under the dominant model anOR=2.96(IC 95% 1.67–5.25;P<0.0001), and under the Log additive model anOR=2.52(IC 95% 1.54–4.15;P<0.0001).Conclusions. The Arg389Gly polymorphism of theADRB1gene may be a worthy biological marker to predict the risk of developing cardiovascular diseases given a high-risk atherogenic index.

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Kumkum, Mahadia, Lolo Wal Marzan, Shahin Akter, Soma Chowdhury Biswas, Mahmood Ahmed Chowdhury e Mohammad Afzal Hossain. "Association of oxytocin receptor gene polymorphisms with autism spectrum disorder in Bengali of Bangladesh population". Asian Journal of Medical and Biological Research 6, n. 2 (7 luglio 2020): 176–86. http://dx.doi.org/10.3329/ajmbr.v6i2.48048.

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Autism spectrum disorder (ASD) is a group of sex-biased neurodevelopmental disorders characterized by core deficits in social interaction, communication and behaviors. Several lines of evidence indicate that oxytocin signaling through its receptor (OXTR), is vital in a wide range of social behaviors and role of OXTR polymorphism in ASD development has also been established in several populations. Therefore, an attempt was taken to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility in a part of Bangladeshi (BEB) population. We have investigated the role of OXTR polymorphisms (rs53576, rs2254298, rs2228485 and rs237911) in ASD development through PCR-RFLP method, based on case studies. A significant frequency (p = 0.027) for OXTR ‘rs53576AA’ risk genotype was found to be associated with ASD which is consistent with the previous study in Chinese but Caucasian and Japanese population. Besides, no significant association has been found for other OXTR variants (rs2254298, rs2228485 and rs237911) in this study. Understanding of these significant association with ASD development could be open a new clue aimed at clinical marker development for ASD diagnosis and treatment in future. Asian J. Med. Biol. Res. June 2020, 6(2): 176-186

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Ilješ, Anja Plemenitaš, Blanka Kores Plesničar e Vita Dolžan. "Associations of NLRP3 and CARD8 gene polymorphisms with alcohol dependence and commonly related psychiatric disorders: a preliminary study". Archives of Industrial Hygiene and Toxicology 72, n. 3 (1 settembre 2021): 191–97. http://dx.doi.org/10.2478/aiht-2021-72-3432.

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Abstract (sommario):

Abstract We investigated two functional polymorphisms in NLRP3 inflammasome genes (NLRP3 rs35829419 and CARD8 rs2043211) and their association with alcohol dependence and related anxiety, depression, obsession-compulsion, or aggression in 88 hospitalised alcohol-dependent patients, 99 abstinent alcohol-dependent participants, and 94 controls, all male Caucasian. Alcohol dependence-related psychiatric disorders were assessed with the Zung Depression and Anxiety scale, Buss-Durkee Hostility Inventory, Alcohol Use Disorders Identification Test, Brief Social Phobia Scale, Obsessive Compulsive Drinking Scale, and Yale-Brown Obsessive-Compulsive Scale. For genotyping we used the allele-specific quantitative polymerase chain reaction-based methods. The three groups differed significantly in CARD8 rs2043211 distribution (P=0.049; chi-squared=9.557; df=4). The NLPR3 rs35829419 polymorphism was not significantly associated with alcohol dependence. In hospitalised alcohol-dependent patients the investigated polymorphisms were not associated with scores indicating alcohol consumption or comorbid symptoms. In abstinent alcohol-dependent subjects homozygotes for the polymorphic CARD8 allele presented with the highest scores on the Zung Anxiety Scale (p=0.048; df=2; F=3.140). Among controls, CARD8 genotype was associated with high scores on the Obsessive Compulsive Drinking Scale (P=0.027; df=2; F=3.744). In conclusion, our results reveal that CARD8 rs2043211 may play some role in susceptibility to alcohol dependence, expression of anxiety symptoms in abstinent alcohol-dependent subjects, and in obsessive compulsive drinking in healthy controls. However, further studies with larger cohorts are required to confirm these preliminary findings.

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Yim, Onn-Siong, Xing Zhang, Idan Shalev, Mikhail Monakhov, Songfa Zhong, Ming Hsu, Soo Hong Chew, Poh San Lai e Richard P. Ebstein. "Delay discounting, genetic sensitivity, and leukocyte telomere length". Proceedings of the National Academy of Sciences 113, n. 10 (22 febbraio 2016): 2780–85. http://dx.doi.org/10.1073/pnas.1514351113.

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Abstract (sommario):

In a graying world, there is an increasing interest in correlates of aging, especially those found in early life. Leukocyte telomere length (LTL) is an emerging marker of aging at the cellular level, but little is known regarding its link with poor decision making that often entails being overly impatient. Here we investigate the relationship between LTL and the degree of impatience, which is measured in the laboratory using an incentivized delay discounting task. In a sample of 1,158 Han Chinese undergraduates, we observe that steeper delay discounting, indexing higher degree of impatience, is negatively associated with LTL. The relationship is robust after controlling for health-related variables, as well as risk attitude—another important determinant of decision making. LTL in females is more sensitive to impatience than in males. We then asked if genes possibly modulate the effect of impatient behavior on LTL. The oxytocin receptor gene (OXTR) polymorphism rs53576, which has figured prominently in investigations of social cognition and psychological resources, and the estrogen receptor β gene (ESR2) polymorphism rs2978381, one of two gonadal sex hormone genes, significantly mitigate the negative effect of impatience on cellular aging in females. The current results contribute to understanding the relationship between preferences in decision making, particularly impatience, and cellular aging, for the first time to our knowledge. Notably, oxytocin and estrogen receptor polymorphisms temper accelerated cellular aging in young females who tend to make impatient choices.

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Mubarak Mustafa Elkarsany, Nadia Madni Mohammed Ahmed, Abdelmohmoud Mokhtar Bashir e Abdegadir Alamin Altoum. "Association of Methylenetetrahydrofolate Reductase (MTHFR) Gene C677T (rs1801133) polymorphism among Sudanese patients with chronic myelogenous leukemia". GSC Biological and Pharmaceutical Sciences 22, n. 3 (30 marzo 2023): 218–24. http://dx.doi.org/10.30574/gscbps.2023.22.3.0091.

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Background: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme regulating the intracellular folate metabolism which plays an important role in carcinogenesis through DNA methylation. Objectives: The current study aimed to determine the association between MTHFR C677T polymorphisms and the risks of chronic myeloid leukemia (CML). Material and methods: This are hospital based cross sectional case control study, a total of 170 Sudanese subjects were enrolled, and 75 patients with chronic myeloid leukemia and 75 age- and sex matched healthy volunteers as a control group. Genomic DNA was extracted by sodium chloride method and The SNPs genotypes were determined using polymerase chain reaction followed by restriction fragment length polymorphism method. (PCR- RFLP). Data of this study were collected using a structured interview questionnaire and analyzed by statistical package for social sciences (version 21). Results: The frequency of the CC genotype was higher in the control group compared with patients (100%,96%), while of the CT genotype was higher in the case (4%) than in control (0.0%); the TT genotype was absent in both study groups, the frequencies T and C allele were 0.02 and 0.98 in CML patient group and 0.00, 0.100 respectively in the control group. There was no clinically significant association between age (P.value= 0.3), gender (P.value= 0.4) and genotype, also there was no statistically significant association when compare case with control genotype (p. value 0.08). Conclusion: C677T MTHFR polymorphism is not associated with the risk of CML among the Sudanese population

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Montero González, G., e M. S. Mondragón Egaña. "Is social attachment an addictive disorder? Role of the latest findings in the opioid system". European Psychiatry 33, S1 (marzo 2016): S381. http://dx.doi.org/10.1016/j.eurpsy.2016.01.1369.

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IntroductionThe endogenous opiate system (EOS) has been linked to social attachment in classical animal experiments, to addictive disorders (AD) and, more recently, to specific traits of personality through research in genetic polymorphisms and neuroimaging techniques.ObjectivesTo expose the relation between social bonding and AD, via the latest neurobiological findings in the EOS. To propose a theoretical framework which may allow a clinical approach based upon respect and no stigmatization.MethodsLiterature review in MEDLINE database with the keywords “opioid”, “polymorphism”, “object attachment”, “addictive behavior”, “personality”.ResultsPolymorphisms in the mu-opioid receptor gene lead to different attachment behaviors in primates. The EOS in humans has been related to pain and placebo effect and recently, to social rejection and acceptance. Thus, some authors talk about “social pain”. Interestingly, the EOS has a role in harm avoidance and in the reward system. These traits of personality (harm avoidance and reward dependence) predispose to AD, and likely, pathological models of social bonding may drive to a need of palliating excessive discomfort originated by an altered opioid function through addictive behaviors. The origin of AD must be focused on the individual vulnerability rather than in the addictive substance/behavior.ConclusionsThe latest findings in the EOS yield concrete evidences that support the classical hypothesis of an opioid nexus between social attachment and AD, and shift the spotlight from the addictive object to the vulnerable subject. This theoretical framework may ease a clinical approach based upon respect and no stigmatization.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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Kachkovska, Vladyslava. "Analysis of the association of bronchial asthma clinical course with ER22/23EK and TTH111I polymorphic variants in the glucocorticoid receptor gene". Ukrainian Scientific Medical Youth Journal 142, n. 4 (4 dicembre 2023): 19–27. http://dx.doi.org/10.32345/usmyj.4(142).2023.19-27.

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bronchial asthma (BA) is one of the important and urgent medical and social problems of our time due to the high incidence and prevalence, which keep increasing. This is a typical multifactorial disease determined by the influence of external factors and genetic predisposition. The combination of these numerous factors determines the phenotypic heterogeneity of bronchial asthma. Identification of asthma phenotypes was based mainly on clinical variables; however, further identification of clinical phenotypes revealed their genetic heterogeneity. Accordingly, the determination of genetic marker data for clinical phenotypes of bronchial asthma will improve the diagnostic capabilities of preventive and evidence-based medicine in the future. The objective of the study was to determine the features of the course of early-onset and late-onset BA depending on the ER22/23EK and Tth111I polymorphisms in the glucocorticoid receptor gene and to supplement modern data on the role of genetic factors in BA onset and the severity for various phenotypes. We examined 553 BA patients and 95 apparently healthy individuals. All of them had previously signed an informed consent form. BA diagnosis, severity, and control level were determined according to the GINA recommendations-2016 and its later versions and the Decree of the Ministry of Health of Ukraine No. 868 issued on 08 October 2013. Respiratory function was studied using Kardioplius diagnostic suite (Ukraine). The patients were divided into two clinical groups according to the BA onset: Group I included 282 patients with late-onset asthma, and Group II included 271 patients with early-onset asthma. The Bioethics Committee of the Medical Institute of Sumy State University approved the study. The ER22/23EK (rs 6189/6190) and Tth111I (rs10052957) polymorphic variants in the glucocorticoid receptor (GR) gene were determined using polymerase chain reaction-restriction fragment length polymorphism analysis. Statistical analysis of obtained results was performed using SPSS–17 program. A statistically significant difference was observed in the distribution of genotypes for the ER22/23EK and TthIIII polymorphisms in the GR gene depending on BA severity, with a higher frequency of minor alleles in both cases in patients with severe BA (χ2 = 6.09; р = 0.048 and χ2 = 15.8; р = 0.001, respectively). The relative risk of severe BA did not depend on the ER22/23EK polymorphism in the GR gene; however, it was 3.63 times higher in the carriers of the TT genotype for the Tth111I polymorphism vs. carriers of the major allele homozygotes. The risk of severe disease in early-onset and late-onset BA depended on the Tth111I polymorphism in the GR gene; in the recessive model, it increased by 3.7 times for early-onset asthma and by 3.5 times – for late-onset asthma. Analysis of ER22/23EK (rs 6189/6190) and Tth111I (rs10052957) polymorphic variants in the GR gene demonstrated their possible correlation not only with the increased risk of BA, but also with certain phenotypes and severity of the disease.

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Kulminski, Alexander, Ethan Jain-Washburn, Ian Philipp, Konstantin Arbeev, Eric Stallard, Mary Feitosa, Nicole Schupf e Kaare Christensen. "IMPACT OF COMBINATIONS OF THE APOE Ɛ4 ALLELE AND TOMM40-APOC1 VARIANTS ON SURVIVAL TO OLDER AGES AND ALZHEIMER’S RISK". Innovation in Aging 6, Supplement_1 (1 novembre 2022): 442. http://dx.doi.org/10.1093/geroni/igac059.1732.

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Abstract Multifactorial diseases, health-related traits, and lifespan are polygenic phenotypes with complex genetic architectures. Polygenicity implies that multiple variants can impact the risks of these phenotypes independently or jointly. Recently, we showed that carriers of minor alleles of rs429358 (APOE ɛ4 encoding polymorphism), rs2075650 (TOMM40), and rs12721046 (APOC1) polymorphisms have up to 4.4 times higher risk of Alzheimer’s disease (AD) than APOE ɛ4 carriers without the minor alleles of rs2075650 and rs12721046. Here, we examined the chances of living to older ages—85 years and above—for carriers of compound genotypes combining these three polymorphisms using data from the Long Life Family Study, Framingham Heart Study, Cardiovascular Health Study, and UK Biobank. Consistent with their higher AD risk, carriers of the APOE ɛ4 allele with one or two minor alleles of rs2075650 and rs12721046 had 24.3% lower log odds of living to 85+ years (β=-0.243, p=2.22×10-2) than APOE ɛ4 carriers without either minor allele. Counterintuitively, AD did not mediate this risk. With AD-affected subjects excluded from the analysis, the effect size for the log odds of living to 85+ years (β=-0.352, p=2.35×10-3) was 1.45 times larger for APOE ɛ4 carriers with one or two minor alleles of rs2075650 and rs12721046. The chances of survival could be associated with lipid- and immunity-related mechanisms, whereas the risk of AD may be associated with amyloid-β-related mechanisms, among others. Targeting heterogeneous polygenic profiles of individuals at higher risks of multifactorial phenotypes may be a promising strategy for translating genetic discoveries to health care.

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TAM, Hamid. "Association of Methylene Tetrahydrofolate Reductase Gene A1298C (Rs1801131) Polymorphism with Myocardial Infarction among Sudanese Patients". Haematology International Journal 5, n. 2 (2021): 1–6. http://dx.doi.org/10.23880/hij-16000192.

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Background: Myocardial infarction (MI) is among the leading causes of mortality worldwide. Variations in folate metabolism including genetic polymorphisms in the key metabolic enzymes had showed influences in the MI process. Objectives: To determine whether the C1298A transition in the Methylene Tetrahydrofolate Reductase ( MTHFR ) gene is associated with increased risk for MI among Sudanese patients. Material and methods: This is a hospital based case control study in which a total of 140 Sudanese subjects were enrolled, 70 patients with myocardial infarction and 70 age- and sex matched healthy volunteers as a control group. Genomic DNA was extracted by (QIA gene, Korea) kits and the SNPs genotypes were determined using polymerase chain reaction followed by restriction fragment length polymorphism (PCR- RFLP). Data of this study were collected using a structured interview questionnaire and analyzed by statistical package for social sciences (version 21). Results: The frequency of the AA genotype was higher in the patients group compared with control (96%, 71% respectively); while the AC genotype was higher in the control (20%, 5% respectively), while the CC genotype was not observed in this study population. The frequencies of A and C alleles were 0.68 and 0.02 respectively in MI patients while frequencies were 0.60 and 0.10 respectively in the control group. No statistically significant association was observed between MTHFR genotypes and MI (P. values = 0.4 and 0.1 for AA and AC genotypes respectively). Conclusion: In this study population, the A1298C MTHFR polymorphism is not associated with the risk of MI among the Sudanese population.

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Enter, D., L. S. Colzato e K. Roelofs. "Dopamine transporter polymorphisms affect social approach-avoidance tendencies". Genes, Brain and Behavior 11, n. 6 (27 aprile 2012): 671–76. http://dx.doi.org/10.1111/j.1601-183x.2012.00791.x.

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Brock, Kinsey M., Simon Baeckens, Colin M. Donihue, José Martín, Panayiotis Pafilis e Danielle L. Edwards. "Trait differences among discrete morphs of a color polymorphic lizard, Podarcis erhardii". PeerJ 8 (5 novembre 2020): e10284. http://dx.doi.org/10.7717/peerj.10284.

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Color polymorphism defies evolutionary expectations as striking phenotypic variation is maintained within a single species. Color and other traits mediate social interactions, and stable polymorphism within a population is hypothesized to be related to correlational selection of other phenotypic traits among color morphs. Here, we report on a previously unknown throat color polymorphism in the Aegean Wall Lizard (Podarcis erhardii) and examine morph-correlated differences in traits important to social behavior and communication: maximum bite force capacity and chemical signal profile. We find that both sexes of P. erhardii have three color morphs: orange, yellow, and white. Moreover, orange males are significantly larger and tend to bite harder than yellow and white males. Although the established color polymorphism only partially matches the observed intraspecific variation in chemical signal signatures, the chemical profile of the secretions of orange males is significantly divergent from that of white males. Our findings suggest that morph colors are related to differences in traits that are crucial for social interactions and competitive ability, illustrating the need to look beyond color when studying polymorphism evolution.

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BARGUM, K., H. HELANTERÄ e L. SUNDSTRÖM. "Genetic population structure, queen supersedure and social polymorphism in a social Hymenoptera". Journal of Evolutionary Biology 20, n. 4 (luglio 2007): 1351–60. http://dx.doi.org/10.1111/j.1420-9101.2007.01345.x.

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Kuzelova, H., R. Ptacek, M. Macek, I. Zukov e I. Eliasova. "Genetical realtions of social loneliness in geriatric patients". European Psychiatry 26, S2 (marzo 2011): 808. http://dx.doi.org/10.1016/s0924-9338(11)72513-5.

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Loneliness affects both psychical and physical health and among geriatric patients can be serious. Social loneliness, anxiety-related personality traits, risk of developing depression, alcoholism or suicidal behavior could be associated with a functional variant in the serotonin transporter. Serotonin transporter gene length polymorphism (5-HTTLPR) is associated with changes of serotonin transporter activity and is one of the major factors which contribute to the etiology of many psychiatric disorders. The aim of the study was to found possible differences in distribution of variants in two groups of geriatric patients (average age 80 years).Group of 300 probands were examined for 5-HTTLPR variants. Blood samples were randomly collected from 150 elderly males and 150 elderly females. The elderly individuals were not related and lived in the same geographic region as the control newborns and the young adults. Two groups were defined - ambulatory (apparently healthy, 65 males and 70 females) and non-ambulatory (have no people who could take care about them, having chronic diseases and depend on geriatric care, 85 males and 80 females) people. Bialelic and trialelic dividing of 5-HTTLPR was considered. Length polymorphism was analyzed (L or S variant) and single nucleotide polymorphism was detected (LA or LG variant).A significant difference was found in allele distribution of 5-HTTLPR in two groups of patients. Ambulatory group of patients had higher occurrence of L allele and also LA allele. The results of the study suggest that social loneliness may have some personality predictors that may have its genetical correlates.

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Stefanic, Polonca, e Ines Mandic-Mulec. "Social Interactions and Distribution of Bacillus subtilis Pherotypes at Microscale". Journal of Bacteriology 191, n. 6 (29 dicembre 2008): 1756–64. http://dx.doi.org/10.1128/jb.01290-08.

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ABSTRACT Bacillus subtilis strains communicate through the comQXPA quorum sensing (QS) system, which regulates genes expressed during early stationary phase. A high polymorphism of comQXP′ loci was found in closely related strains isolated from desert soil samples separated by distances ranging from meters to kilometers. The observed polymorphism comprised four communication groups (pherotypes), such that strains belonging to the same pherotype exchanged information efficiently but strains from different pherotypes failed to communicate. To determine whether the same level of polymorphism in the comQXP′ QS system could be detected at microscale, B. subtilis isolates were obtained from two separate 1-cm3 soil samples, which were progressively divided into smaller sections. Cross-activation studies using pherotype-responsive reporter strains indicated the same number of communication pherotypes at microscale as previously determined at macroscale. Sequencing of the housekeeping gene gyrA and the QS comQ gene confirmed different evolutionary rates of these genes. Furthermore, an asymmetric communication response was detected inside the two pherotype clusters, suggesting continuous evolution of the QS system and possible development of new languages. To our knowledge, this is the first microscale study demonstrating the presence of different QS languages among isolates of one species, and the implications of this microscale diversity for microbial interactions are discussed.

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Yang, Chaeyeon, Aeran Kwon, Bori Jung, Hyun Seo Lee, Hyang Sook Kim e Seung-Hwan Lee. "Risk and Protective Factors for Childhood Physical Abuse and Suicidal Ideation: The Effect of Brain-Derived Neurotrophic Factor Polymorphism and Social Support". Psychiatry Investigation 19, n. 10 (25 ottobre 2022): 857–65. http://dx.doi.org/10.30773/pi.2022.0189.

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Objective This study aimed to explore the relationship between childhood physical abuse and suicidal ideation considering the effects of genetic and environmental factors in patients with post-traumatic stress disorder (PTSD) by focusing on brain-derived neurotrophic factor (BDNF) polymorphism and social support, respectively.Methods One-hundred fourteen patients with PTSD and 94 healthy controls (HCs) were genotyped with respect to BDNF Val66Met polymorphism. All participants underwent psychological assessments. The hierarchical regression analysis and the simple slope analysis were conducted.Results As for patients with PTSD, the moderation effect of BDNF polymorphism was significant but not for social support. Specifically, the BDNF Val/Val genotype worked as a risk factor and strengthens the relationship between childhood physical abuse and suicidal ideation. As for the HCs, the significant moderation effect was found only in social support, but not for BDNF polymorphism. The relationship between childhood physical abuse and suicidal ideation was weakened for the HCs with high social support.Conclusion This study demonstrated a significant BDNF genetic vulnerability for suicide in patients with PTSD who experienced childhood physical abuse. Our results suggested that social support provided a mitigating effect on the relationship between childhood physical abuse and suicidal ideation only in the HCs.

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Troisi, A. "S12-03 Individual differences in social affiliation: The role of the A118G polymorphism of the mu-opioid receptor gene (OPRM1)". European Psychiatry 26, S2 (marzo 2011): 2055. http://dx.doi.org/10.1016/s0924-9338(11)73758-0.

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IntroductionMost of us find social encounters rewarding, especially when we encounter those with whom we are familiar and have built up a relationship. From an evolutionary point of view, this is not surprising considering that human beings are fundamentally social organisms. Considering that endogenous opioids mediate hedonic responses to a variety of natural rewards, the common A118G polymorphism in the mu-opioid receptor gene (OPRM1) might also modulate individual differences in the capacity to experience social reward.AimsIn the present study, we hypothesized that, compared to individuals with the A118A genotype, individuals expressing the minor 118G allele had an increased need for affiliation and an increased capacity to experience social reward.MethodsIn a mixed sample (N = 214) of adult healthy volunteers and psychiatric patients, we analyzed the association between the A118G polymorphism of the OPRM1 and two different psychological constructs reflecting individual differences in the capacity to experience social reward.ResultsCompared to individuals expressing only the major allele (A) of the A118G polymorphism, subjects expressing the minor allele (G) had an increased tendency to become engaged in affectionate relationships, as indicated by lower scores on a self-report measure of avoidant attachment, and experienced more pleasure in social situations, as indicated by lower scores on a self-report measure of social anhedonia.ConclusionsThe results reported here are in agreement with the brain opioid hypothesis of social attachment and raise several questions about the maintenance of the A118G polymorphism in the evolution of human social behavior.

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Howarth, Emmeline R. I., Isabelle D. Szott, Claire L. Witham, Craig S. Wilding e Emily J. Bethell. "Genetic polymorphisms in the serotonin, dopamine and opioid pathways influence social attention in rhesus macaques (Macaca mulatta)". PLOS ONE 18, n. 8 (2 agosto 2023): e0288108. http://dx.doi.org/10.1371/journal.pone.0288108.

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Behaviour has a significant heritable component; however, unpicking the variants of interest in the neural circuits and molecular pathways that underpin these has proven difficult. Here, we present a comprehensive analysis of the relationship between known and new candidate genes from identified pathways and key behaviours for survival in 109 adult rhesus macaques (Macaca mulatta). Eight genes involved in emotion were analysed for variation at a total of nine loci. Genetic data were then correlated with cognitive and observational measures of behaviour associated with wellbeing and survival using MCMC-based Bayesian GLMM in R, to account for relatedness within the macaque population. For four loci the variants genotyped were length polymorphisms (SLC6A4 5-hydroxytryptamine transporter length-polymorphic repeat (5-HTTLPR), SLC6A4 STin polymorphism, Tryptophan 5-hydroxylase 2 (TPH2) and Monoamine oxidase A (MAOA)) whilst for the other five (5-hydroxytryptamine receptor 2A (HTR2A), Dopamine Receptor D4 (DRD4), Oxytocin receptor (OXTR), Arginine vasopressin receptor 1A (AVPR1a), Opioid receptor mu(μ) 1 (OPRM1)) SNPs were analysed. STin genotype, DRD4 haplotype and OXTR haplotype were significantly associated with the cognitive and observational measures of behaviour associated with wellbeing and survival. Genotype for 5-HTTLPR, STin and AVPR1a, and haplotype for HTR2A, DRD4 and OXTR were significantly associated with the duration of behaviours including fear and anxiety. Understanding the biological underpinnings of individual variation in negative emotion (e.g., fear and anxiety), together with their impact on social behaviour (e.g., social attention including vigilance for threat) has application for managing primate populations in the wild and captivity, as well as potential translational application for understanding of the genetic basis of emotions in humans.

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Weaver, Starla M., Aileen Chau, Jaclyn N. Portelli e Jordan Grafman. "Genetic Polymorphisms Influence Recovery from Traumatic Brain Injury". Neuroscientist 18, n. 6 (8 marzo 2012): 631–44. http://dx.doi.org/10.1177/1073858411435706.

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Traumatic brain injury (TBI) is a major public health concern in both civilian and military populations. Recently, genetics studies have begun to identify individual differences in polymorphisms that could affect recovery and outcome of cognitive and social processes following TBI. This review considers the potential for polymorphisms to influence six specific cognitive and social functions, which represent the most prominent domains of impairment following TBI: working memory, executive function, decision making, inhibition and impulsivity, aggression, and social and emotional function. Examining the influence of polymorphisms on TBI outcome has the potential to contribute to an understanding of variations in TBI outcome, aid in the triaging and treatment of TBI patients, and ultimately lead to targeted interventions based on genetic profiles.

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Zadroga, Łukasz, Elżbieta Grzywacz, Maria Grzymkowska, Jolanta Chmielowiec, Jolanta Masiak, Aleksandra Strońska-Pluta, Anna Grzywacz e Krzysztof Chmielowiec. "The role of the OPRM1 gene polymorphism and its methylation in people in dependence on substances and with different intensity of pain". Polish Journal of Public Health 132, n. 1 (1 gennaio 2022): 25–30. http://dx.doi.org/10.2478/pjph-2022-0005.

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Abstract Opioid receptors belong to the group of Gi and Go coupled receptors, inhibiting the activity of the neuron. Opioid receptors regulate reward and aversion. The opioid system contributes to self and species survival by promoting reward elicited by natural stimuli (such as food, sex and social interaction), regulating mood states and facilitating efficient coping with pain and stress. It is suggested that OPRM1 polymorphism is associated with alcohol consumption especially increased in the case of G alleles subjects than A-alleles homozygotes. In several studies, OPRM1 methylation was suspected to be predictive factor of opioid dependence in pain treatment. The relationship of postoperative or preoperative pain with methylation of some CpG sites in the OPRM1 promoter has also been demonstrated. It is known that OPRM1 SNPs provide changes in the structure of the MOR receptor, so by confirming the pharmacogenetic effects of OPRM1 polymorphisms and using these results to guide therapeutic decisions, patients can be prescribed treatment options with the best efficacy and greatest tolerance. Pharmacogenomics of OPRM1 can improve pain management by predicting individual response to pain medications before treatment and facilitate the development of new and more effective pain medications for post-operative pain.

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Abbo, Shahal, Avi Gopher, Zvi Peleg, Yehoshua Saranga, Tzion Fahima, Francesco Salamini e Simcha Lev-Yadun. "The ripples of "The Big (agricultural) Bang": the spread of early wheat cultivation". Genome 49, n. 8 (1 agosto 2006): 861–63. http://dx.doi.org/10.1139/g06-049.

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Demographic expansion and (or) migrations leave their mark in the pattern of DNA polymorphisms of the respective populations. Likewise, the spread of cultural phenomena can be traced by dating archaeological finds and reconstructing their direction and pace. A similar course of events is likely to have taken place following the "Big Bang" of the agricultural spread in the Neolithic Near East from its core area in southeastern Turkey. Thus far, no attempts have been made to track the movement of the founder genetic stocks of the first crop plants from their core area based on the genetic structure of living plants. In this minireview, we re-interpret recent wheat DNA polymorphism data to detect the genetic ripples left by the early wave of advance of Neolithic wheat farming from its core area. This methodology may help to suggest a model charting the spread of the first farming phase prior to the emergence of truly domesticated wheat types (and other such crops), thereby increasing our resolution power in studying this revolutionary period of human cultural, demographic, and social evolution.Key words: early wave of advance of Neolithic farming, genetic ripples, Neolithic revolution, origin of Near Eastern agriculture.

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