Articoli di riviste: "Social polymorphism"

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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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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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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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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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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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Harpur, Brock A., e Sandra M. Rehan. "Connecting social polymorphism to single nucleotide polymorphism: population genomics of the small carpenter bee, Ceratina australensis". Biological Journal of the Linnean Society 132, n. 4 (12 febbraio 2021): 945–54. http://dx.doi.org/10.1093/biolinnean/blab003.

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Abstract How do social insects expand and adapt to new ranges and how does sociality per se contribute to their success (or failure)? These questions can become tractable with the use of population genomics. We explored the population genomics of the socially polymorphic small carpenter bee, Ceratina australensis, across its range in eastern and southern Australia to search for evidence of selection and identify loci associated with social nesting. We sampled and sequenced fully the genomes of 54 socially and solitarily nesting C. australensis within Queensland, Victoria and South Australia, yielding 2 061 234 single nucleotide polymorphisms across the genome. We found strong evidence of population-specific selection and evidence of genetic variants associated with social nesting behaviour. Both the sets of associated loci and differentially expressed ‘social’ genes had evidence of positive selection, suggesting that alleles at genes associated with social nesting might provide different fitness benefits.

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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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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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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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Mullon, Charles, Laurent Keller e Laurent Lehmann. "Social polymorphism is favoured by the co-evolution of dispersal with social behaviour". Nature Ecology & Evolution 2, n. 1 (4 dicembre 2017): 132–40. http://dx.doi.org/10.1038/s41559-017-0397-y.

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Richards, M. H., E. J. von Wettberg e A. C. Rutgers. "A novel social polymorphism in a primitively eusocial bee". Proceedings of the National Academy of Sciences 100, n. 12 (30 maggio 2003): 7175–80. http://dx.doi.org/10.1073/pnas.1030738100.

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Keller, Laurent. "Parasites, Worker Polymorphism, and Queen Number in Social Insects". American Naturalist 145, n. 5 (maggio 1995): 842–47. http://dx.doi.org/10.1086/285772.

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Davison, P. J., e J. Field. "Social polymorphism in the sweat bee Lasioglossum (Evylaeus) calceatum". Insectes Sociaux 63, n. 2 (maggio 2016): 327–38. http://dx.doi.org/10.1007/s00040-016-0473-3.

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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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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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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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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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Valenzuela, Nohelia T., Irene Ruiz-Pérez, Carlos Rodríguez-Sickert, Pablo Polo, José Antonio Muñoz-Reyes, Ali Yeste-Lizán e Miguel Pita. "The Relationship between Androgen Receptor Gene Polymorphism, Aggression and Social Status in Young Men and Women". Behavioral Sciences 12, n. 2 (10 febbraio 2022): 42. http://dx.doi.org/10.3390/bs12020042.

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In both sexes, aggression has been described as a critical trait to acquire social status. Still, almost uniquely in men, the link between aggressiveness and the genetic background of testosterone sensitivity measured from the polymorphism in the androgen receptor (AR) gene has been previously investigated. We assessed the relevance of the AR gene to understand aggression and how aggressiveness affects social status in a cross-sectional study of 195 participants, for the first time in both young men and women. We estimated polymorphism sequences from saliva and measured aggression and self-perceived social status. Unfortunately, the results did not support our prediction because we did not find any of the expected relationships. Therefore, the results suggest that the genetic association between aggressive mechanisms and polymorphism of the AR gene is less straightforward than expected, at least in men, and seems to indicate that aggression is not usually used to gain social status in our population.

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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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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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Harvell, C. Drew. "The Evolution of Polymorphism in Colonial Invertebrates and Social Insects". Quarterly Review of Biology 69, n. 2 (giugno 1994): 155–85. http://dx.doi.org/10.1086/418538.

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Oh, K. S., D. W. Shin e M. S. Lee. "Dopamine transporter gene (DAT1) polymorphism and Korean social phobia patients". European Neuropsychopharmacology 11 (gennaio 2001): S301. http://dx.doi.org/10.1016/s0924-977x(01)80406-5.

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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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Mullon, Charles, Laurent Keller e Laurent Lehmann. "Publisher Correction: Social polymorphism is favoured by the co-evolution of dispersal with social behaviour". Nature Ecology & Evolution 2, n. 1 (11 dicembre 2017): 197. http://dx.doi.org/10.1038/s41559-017-0439-5.

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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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Ogi, Asahi, Valentina Naef, Filippo Maria Santorelli, Chiara Mariti e Angelo Gazzano. "Oxytocin Receptor Gene Polymorphism in Lactating Dogs". Animals 11, n. 11 (29 ottobre 2021): 3099. http://dx.doi.org/10.3390/ani11113099.

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Genetic variations in the oxytocinergic system, known to regulate social behavior throughout the evolution of mammals, are believed to account for differences in mammalian social behavior. Particularly, polymorphic variants of the oxytocin receptor (OXTR) gene have been associated with behavioral variations in both humans and dogs. In this study, we offered evidence of the correlation between levels of salivary oxytocin (sOXT), maternal behavior and a single-nucleotide gene variant in OXTR (rs8679684) in nineteen lactating Labrador Retriever dogs. Carriers of at least one copy of the minor A allele showed higher levels of sOXT and maternal care in comparison with the homozygous T allele carriers. Considering the relevance of mother care in newborn development, these findings could help us to better understand the possible impact of variants in the OXTR gene in selecting dams.

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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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Surridge, Alison K., Sandra S. Suárez, Hannah M. Buchanan-Smith e Nicholas I. Mundy. "Non-random association of opsin alleles in wild groups of red-bellied tamarins ( Saguinus labiatus ) and maintenance of the colour vision polymorphism". Biology Letters 1, n. 4 (17 agosto 2005): 465–68. http://dx.doi.org/10.1098/rsbl.2005.0367.

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The remarkable X-linked colour vision polymorphism observed in many New World primates is thought to be maintained by balancing selection. Behavioural tests support a hypothesis of heterozygote advantage, as heterozygous females (with trichromatic vision) exhibit foraging benefits over homozygous females and males (with dichromatic vision) when detecting ripe fruit on a background of leaves. Whilst most studies to date have examined the functional relevance of polymorphic colour vision in the context of foraging behaviour, alternative hypotheses proposed to explain the polymorphism have remained unexplored. In this study we examine colour vision polymorphism, social group composition and breeding success in wild red-bellied tamarins Saguinus labiatus . We find that the association of males and females within tamarin social groups is non-random with respect to colour vision genotype, with identified mating partners having the greatest allelic diversity. The observed distribution of alleles may be driven by inbreeding avoidance and implies an important new mechanism for maintaining colour vision polymorphism. This study also provides the first preliminary evidence that wild trichromatic females may have increased fitness compared with dichromatic counterparts, as measured by breeding success and longevity.

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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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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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Ross, Kenneth G., Michael J. B. Krieger e D. DeWayne Shoemaker. "Alternative Genetic Foundations for a Key Social Polymorphism in Fire Ants". Genetics 165, n. 4 (1 dicembre 2003): 1853–67. http://dx.doi.org/10.1093/genetics/165.4.1853.

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Abstract Little is known about the genetic foundations of colony social organization. One rare example in which a single major gene is implicated in the expression of alternative social organizations involves the presumed odorant-binding protein gene Gp-9 in fire ants. Specific amino acid substitutions in this gene invariably are associated with the expression of monogyny (single queen per colony) or polygyny (multiple queens per colony) in fire ant species of the Solenopsis richteri clade. These substitutions are hypothesized to alter the abilities of workers to recognize queens and thereby regulate their numbers in a colony. We examined whether these same substitutions underlie the monogyny/polygyny social polymorphism in the distantly related fire ant S. geminata. We found that Gp-9 coding region sequences are identical in the polygyne and monogyne forms of this species, disproving our hypothesis that one or a few specific amino acid replacements in the protein are necessary to induce transitions in social organization in fire ants. On the other hand, polygyne S. geminata differs genetically from the monogyne form in ways not mirrored in the two forms of S. invicta, a well-studied member of the S. richteri clade, supporting the conclusion that polygyny did not evolve via analogous routes in the two lineages. Specifically, polygyne S. geminata has lower genetic diversity and different gene frequencies than the monogyne form, suggesting that the polygyne form originated via a founder event from a local monogyne population. These comparative data suggest an alternative route to polygyny in S. geminata in which loss of allelic variation at genes encoding recognition cues has led to a breakdown in discrimination abilities and the consequent acceptance of multiple queens in colonies.

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Creswell, Kasey G., Michael A. Sayette, Stephen B. Manuck, Robert E. Ferrell, Shirley Y. Hill e John D. Dimoff. "DRD4 Polymorphism Moderates the Effect of Alcohol Consumption on Social Bonding". PLoS ONE 7, n. 2 (8 febbraio 2012): e28914. http://dx.doi.org/10.1371/journal.pone.0028914.

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Fogarty, Sean, Julien Cote e Andrew Sih. "Social Personality Polymorphism and the Spread of Invasive Species: A Model". American Naturalist 177, n. 3 (marzo 2011): 273–87. http://dx.doi.org/10.1086/658174.

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Rehan, S. M., M. H. Richards e M. P. Schwarz. "Social polymorphism in the Australian small carpenter bee, Ceratina (Neoceratina) australensis". Insectes Sociaux 57, n. 4 (23 aprile 2010): 403–12. http://dx.doi.org/10.1007/s00040-010-0097-y.

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Hammock, E. A. D. "Functional Microsatellite Polymorphism Associated with Divergent Social Structure in Vole Species". Molecular Biology and Evolution 21, n. 6 (12 febbraio 2004): 1057–63. http://dx.doi.org/10.1093/molbev/msh104.

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Yan, Zheng, Simon H. Martin, Dietrich Gotzek, Samuel V. Arsenault, Pablo Duchen, Quentin Helleu, Oksana Riba-Grognuz et al. "Evolution of a supergene that regulates a trans-species social polymorphism". Nature Ecology & Evolution 4, n. 2 (20 gennaio 2020): 240–49. http://dx.doi.org/10.1038/s41559-019-1081-1.

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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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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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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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Surya Yudhantara, Dearisa, Kresna Septiandy Runtuk, Felix Wijovi e Darien Alfa Cipta. "Association between Brain-derived Neurotrophic Factor (BDNF) Val66Met polymorphism and Clinical Outcomes as Measured with PANSS Scale in Patients With Schizophrenia in Two Psychiatric Centres in East Java – Indonesia". Archives of Psychiatry Research 60, n. 2 (2 luglio 2024): 91–98. http://dx.doi.org/10.20471/june.2024.60.02.01.

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Aim: The etiology of schizophrenia has been linked to complex interactions of genetic and environmental factors, and among them are genes that regulate BDNF (Brain-derived Neurotrophic Factor) expression. The BDNF has been linked to the pathophysiology of schizophrenia, particularly the Val66Met polymorphism. This study aims to assess BDNF Val66Met polymorphism and its role in positive and negative symptoms in patients with schizophrenia in East Java. Subjects and Methods: A total of 52 subjects with schizophrenia living in East Java were assessed for BDNF Val66Met polymorphism. The analysis was performed using Statistical the Social Sciences (SPSS) software version 22. Clinical assessment was conducted using the positive and negative syndrome scale (PANSS). Data were analyzed using linear regression multivariate analysis. Results: Our study found that Val/Met polymorphism is associated negatively with the total PANSS scores (beta coefficient = -12.299, p = 0.017). The Val/Val polymorphism is associated with negative symptoms (beta coefficient = 22.607, p = 0.043). The present study’s findings considered age, gender, education level, number of antipsychotics consumed, medication adherence, and duration of untreated psychosis. Conclusion: Val/Val polymorphism is associated with a higher PANSS total score. Val/Met genotype is associated with more severe positive symptoms, while the Val/Val genotype is associated with more negative symptoms. Further study with a larger and multicenter sample is needed to clarify further the relationship of BDNF polymorphism to clinical outcomes of schizophrenia.

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Maeda, Takafumi. "Perspectives on Environmental Adaptability and Physiological Polymorphism in Thermoregulation". Journal of PHYSIOLOGICAL ANTHROPOLOGY and Applied Human Science 24, n. 3 (2005): 237–40. http://dx.doi.org/10.2114/jpa.24.237.

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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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Mukherjee, B. N., A. P. Reddy, K. C. Malhotra e M. Vijaykumar. "tterns of Social and Geographical Distribution of Transferrin Subtype Polymorphism in India". Human Heredity 36, n. 2 (1986): 113–18. http://dx.doi.org/10.1159/000153610.

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McQuaid, Robyn J., Opal A. McInnis, Kimberly Matheson e Hymie Anisman. "Distress of ostracism: oxytocin receptor gene polymorphism confers sensitivity to social exclusion". Social Cognitive and Affective Neuroscience 10, n. 8 (5 gennaio 2015): 1153–59. http://dx.doi.org/10.1093/scan/nsu166.

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Surtees, Paul G., Nicholas W. J. Wainwright, Saffron A. G. Willis-Owen, Robert Luben, Nicholas E. Day e Jonathan Flint. "Social Adversity, the Serotonin Transporter (5-HTTLPR) Polymorphism and Major Depressive Disorder". Biological Psychiatry 59, n. 3 (febbraio 2006): 224–29. http://dx.doi.org/10.1016/j.biopsych.2005.07.014.

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Taylor, Warren D., Stephan Züchner, Douglas R. McQuoid, David C. Steffens, Dan G. Blazer e K. Ranga R. Krishnan. "Social support in older individuals: The role of the BDNF Val66Met polymorphism". American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147B, n. 7 (5 ottobre 2008): 1205–12. http://dx.doi.org/10.1002/ajmg.b.30754.

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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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Gao, Yunpeng, e Nan Zhang. "Social Security and Privacy for Social IoT Polymorphic Value Set: A Solution to Inference Attacks on Social Networks". Security and Communication Networks 2019 (28 agosto 2019): 1–16. http://dx.doi.org/10.1155/2019/5498375.

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Social Internet of Things (SIoT) integrates social network schemes into Internet of Things (IoT), which provides opportunities for IoT objects to form social communities. Existing social network models have been adopted by SIoT paradigm. The wide distribution of IoT objects and openness of social networks, however, make it more challenging to preserve privacy of IoT users. In this paper, we present a novel framework that preserves privacy against inference attacks on social network data through ranked retrieval models. We propose PVS, a privacy-preserving framework that involves the design of polymorphic value sets and ranking functions. PVS enables polymorphism of private attributes by allowing them to respond to different queries in different ways. We begin this work by identifying two classes of adversaries, authenticity-ignorant adversary, and authenticity-knowledgeable adversary, based on their knowledge of the distribution of private attributes. Next, we define the measurement functions of utility loss and propose PVSV and PVST that preserve privacy against authenticity-ignorant and authenticity-knowledgeable adversaries, respectively. We take into account the utility loss of query results in the design of PVSV and PVST. Finally, we show that PVSV and PVST meet the privacy guarantee with acceptable utility loss in extensive experiments over real-world datasets.

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