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Delluc, Aurélien, Lénaïck Gourhant, Karine Lacut, Bernard Mercier, Marie-Pierre Audrezet, Emmanuel Nowak, Emmanuel Oger et al. "Association of common genetic variations and idiopathic venous thromboembolism". Thrombosis and Haemostasis 103, n. 06 (2010): 1161–69. http://dx.doi.org/10.1160/th09-07-0430.
Testo completoAbstract (sommario):
SummaryVenous thromboembolism (VTE) is a multifactorial disease, caused by interacting environmental and genetic risk factors. Gene-centric geno-typing strategy is one of the approaches to explore unexplained associations between risk factors and VTE. It was the objective of this study to evaluate, using a gene-centric genotyping strategy, polymorphisms in genes involved in the following pathways: coagulation cascade process, renin-angiotensin or adrenergic systems, lipid metabolism, platelet aggregation. Allele frequency was compared between 677 cases with idiopathic VTE and their matched controls. After Bonferroni adjustment, four single nucleotide polymorphisms (SNPs) were significantly associated with VTE: Factor XI rs925451 polymorphism, factor XI rs2289252 polymorphism, factor II rs1799963 (G20210A) polymorphism and factor V Leiden rs6025. An additive mode of inheritance fitted best both factor XI polymorphisms. In this hospital-based case-control study, two polymorphisms located on the factor XI gene were significantly associated with VTE. Other newly investigated polymorphisms with potentially false negatives may warrant further analyses.
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Siddique, Imad, K. Scott Brimble, Louise Walkin, Angela Summers, Paul Brenchley, Sarah Herrick e Peter J. Margetts. "Genetic Polymorphisms and Peritoneal Membrane Function". Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis 35, n. 5 (settembre 2015): 517–29. http://dx.doi.org/10.3747/pdi.2014.00049.
Testo completoAbstract (sommario):
BackgroundOutcomes for peritoneal dialysis (PD) patients are affected by the characteristics of the peritoneal membrane, which may be determined by genetic variants. We carried out a systematic review of the literature to identify studies which assessed the association between genetic polymorphisms, peritoneal membrane solute transport, and clinical outcomes for PD patients.MethodsThe National Library of Medicine was searched using a variety of strategies. Studies which met our inclusion criteria were reviewed and data abstracted. Our outcomes of interest included: high transport status peritoneal membrane, risk for peritonitis, encapsulating peritoneal sclerosis (EPS), patient and technique survival. We combined data from studies which evaluated the same genetic polymorphism and the same outcome.ResultsWe evaluated 18 relevant studies. All studies used a candidate gene approach. Gene polymorphisms in the interleukin (IL)-6 gene were associated with peritoneal membrane solute transport in several studies in different ethnic populations. Associations with solute transport and polymorphisms in endothelial nitric oxide synthase and receptor for advanced glycation end product genes were also identified. There was evidence of a genetic predisposition for peritonitis found in 2 studies, and for EPS in 1 study. Survival was found to be associated with a polymorphism in vascular endothelial growth factor and technique failure was associated with a polymorphism in the IL-1 receptor antagonist.ConclusionsThere is evidence that characteristics of the peritoneal membrane and clinical outcomes for PD patients have genetic determinants. The most consistent association was between IL-6 gene polymorphisms and peritoneal membrane solute transport.
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Verloop, Herman, Olaf M. Dekkers, Robin P. Peeters, Jan W. Schoones e Johannes W. A. Smit. "GENETICS IN ENDOCRINOLOGY: Genetic variation in deiodinases: a systematic review of potential clinical effects in humans". European Journal of Endocrinology 171, n. 3 (settembre 2014): R123—R135. http://dx.doi.org/10.1530/eje-14-0302.
Testo completoAbstract (sommario):
Iodothyronine deiodinases represent a family of selenoproteins involved in peripheral and local homeostasis of thyroid hormone action. Deiodinases are expressed in multiple organs and thyroid hormone affects numerous biological systems, thus genetic variation in deiodinases may affect multiple clinical endpoints. Interest in clinical effects of genetic variation in deiodinases has clearly increased. We aimed to provide an overview for the role of deiodinase polymorphisms in human physiology and morbidity. In this systematic review, studies evaluating the relationship between deiodinase polymorphisms and clinical parameters in humans were eligible. No restrictions on publication date were imposed. The following databases were searched up to August 2013: Pubmed, EMBASE (OVID-version), Web of Science, COCHRANE Library, CINAHL (EbscoHOST-version), Academic Search Premier (EbscoHOST-version), and ScienceDirect. Deiodinase physiology at molecular and tissue level is described, and finally the role of these polymorphisms in pathophysiological conditions is reviewed. Deiodinase type 1 (D1) polymorphisms particularly show moderate-to-strong relationships with thyroid hormone parameters, IGF1 production, and risk for depression. D2 variants correlate with thyroid hormone levels, insulin resistance, bipolar mood disorder, psychological well-being, mental retardation, hypertension, and risk for osteoarthritis. D3 polymorphisms showed no relationship with inter-individual variation in serum thyroid hormone parameters. One D3 polymorphism was associated with risk for osteoarthritis. Genetic deiodinase profiles only explain a small proportion of inter-individual variations in serum thyroid hormone levels. Evidence suggests a role of genetic deiodinase variants in certain pathophysiological conditions. The value for determination of deiodinase polymorphism in clinical practice needs further investigation.
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Somberg, John C. "Genetic Polymorphisms". American Journal of Therapeutics 9, n. 4 (luglio 2002): 271. http://dx.doi.org/10.1097/00045391-200207000-00001.
Testo completo
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Ventriglio, A., A. Petito, A. Gentile, G. Vitrani, I. Bonfitto, A. C. Cecere, A. Rinaldi et al. "Pharmacodynamic targets of psychotic patients treated with a long-acting therapy". European Psychiatry 41, S1 (aprile 2017): S366—S367. http://dx.doi.org/10.1016/j.eurpsy.2017.02.370.
Testo completoAbstract (sommario):
IntroductionGiven the poor compliance of schizofrenic patients to antipsychotic therapies, are been developed drugs in long-acting formulation that for their pharmacokinetic ensures prolonged therapeutic activities. Currently, we consider that their efficacy depends on hereditary tracts, influencing both pharmacodynamic and pharmacokinetic parameters.ObjectiveInvestigate relationships between clinical efficacy and genetic polymorphims of long-acting drugs’ pharmacodynamic targets.MethodsSeventy-eight psychotic patients, treated with atypical long-acting antipsychotics (olanzapine pamoate, paliperidone palmitate, risperidon and aripiprazole), were examined. We carried out a blood sampling to evaluate dopaminergic DRD2 and glutamatergic GRM3 genetic receptors polymorphisms. PANSS and BPRS scales were used to assess clinical condition.ResultsRegarding the GRM3 genes, the study of rs2228595 and rs6465084 polymorphisms showed a prevalence of wild type genotypic frequency of 81.2% and 56.2%, respectively. The prevalence of the patients with mutated heterozygote genotype (rs6465084 polymorphisms) resulted high (40.6%). Considering rs1989796 e rs274622 polymorphisms, the sample showed a prevalence of mutated heterozygote genotype in the 53.1% e 45.3%, respectively, with a percentage of 43.7% of patients with a mutation in homozygosis. Considering the rs146812 polymorphism, the 53.1% of patients resulted with a wild type genotype. Finally, findings showed a prevalence of 56.2% for the mutated heterozygote genotype in the DRD2 rs6277 polymorphism. The genotypic categorization analysis demonstrated a significative association between the GRM3 rs274622 polymorphism and higher BPRS scores.ConclusionsThe relationship between rs274622 polymorphism and worse clinical conditions could indicate a major resistance to long-acting antipsychotics in patients with genotypic frequency CT (mutated heterozygosis) for this polymorphism.Disclosure of interestThe authors have not supplied their declaration of competing interest.
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Muiño, Elena, Jurek Krupinski, Caty Carrera, Cristina Gallego-Fabrega, Joan Montaner e Israel Fernández-Cadenas. "An Inflammatory Polymorphisms Risk Scoring System for the Differentiation of Ischemic Stroke Subtypes". Mediators of Inflammation 2015 (2015): 1–7. http://dx.doi.org/10.1155/2015/569714.
Testo completoAbstract (sommario):
Inflammation has been associated with atherothrombotic stroke and recently with cardioembolic stroke. Different genetic risk factors have been specifically associated with the subtypes of ischemic stroke (cardioembolic, atherothrombotic, and lacunar). However, there are no studies that have generated genetic risk scores for the different subtypes of ischemic stroke using polymorphisms associated with inflammation.Methods.We have analyzed 68 polymorphisms of 30 inflammatory mediator genes in 2,685 subjects: 1,987 stroke cases and 698 controls. We generated a genetic scoring system with the most significant polymorphisms weighted by the odds ratio of every polymorphism and taken into consideration the stroke subtype.Results.Three polymorphisms, rs1205 (CRPgene), rs1800779, and rs2257073 (NOS3gene), were associated with cardioembolic stroke (pvalue<0.05). The score generated was only associated with the cardioembolic stroke subtype (pvalue: 0.001) and was replicated in an independent cohort (pvalue: 0.017). The subjects with the highest score presented a cardioembolic stroke in 92.2% of the cases (pvalue: 0.002).Conclusion.The genetics of inflammatory markers is more closely associated with cardioembolic strokes than with atherothrombotic or lacunar strokes. The genetic risk scoring system could be useful in the prediction and differentiation of ischemic stroke; however, it might be specific to particular ischemic stroke subtypes.
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Makowska-Kaczmarska, Marzena, Anna Okoń e Elżbieta Olszewska. "Role of polymorphism of the interleukin-1B gene and other genetic polymorphisms in the aetiology of root resorption in patients receiving orthodontic treatment". Forum Ortodontyczne 13, n. 1 (1 marzo 2017): 36–42. http://dx.doi.org/10.5604/01.3001.0010.2604.
Testo completoAbstract (sommario):
Aim. The aim of the work was to present the latest directions in the research on gene polymorphisms in the global population and to discuss their potential role in the pathogenesis of root resorption during orthodontic treatment. Material and methods. A review of the literature in Polish and English from the years 1990–2015 was conducted using PubMed/MEDLINE databases and the results of studies kept in the database of the National Centre for Biotechnology Information were used. Key words used: genetics of root resorption, genetic polymorphism, interleukin-1B. Results. 19 articles were analysed. Special attention was placed on the latest studies on the human genome, especially focused on gene polymorphisms in the global population. Summary. Pathogenesis of root resorption during orthodontic treatment is complex. Its background is undoubtedly genetic. Gene polymorphism is important. The role of polymorphism of the interleukin-1B gene and other genes in the interleukin-1 cluster draws special attention. Identification of genetic factors that play an important role in the aetiology of root resorption may in the future help to identify patients susceptible to such complications even before the beginning of orthodontic treatment. Potential possibilities of DNA testing in clinical practice are enormous. The role of individual gene polymorphisms in the pathogenesis of root resorption has not been yet explained in detail and further multicentre studies are necessary. At this stage of studies no reliable markers have been detected in order to predict which patients would develop this complication. (Makowska- Kaczmarska M, Okoń A, Olszewska E. Role of polymorphism of the interleukin-1B gene and other genetic polymorphisms in the aetiology of root resorption in patients receiving orthodontic treatment. Orthod Forum 2017; 13: 36-42).
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Simmonds, Rachel, José Hermida, Suely Rezende e David Lane. "Haemostatic Genetic Risk Factors in Arterial Thrombosis". Thrombosis and Haemostasis 86, n. 07 (2001): 374–85. http://dx.doi.org/10.1055/s-0037-1616235.
Testo completoAbstract (sommario):
SummaryHaemostasis plays an integral role in arterial thrombotic disease. However, establishing which of the factors are risk factors has proven surprisingly difficult. Because of its technical simplicity and digital nature, the study of haemostatic polymorphisms as risk factors has grown in popularity. Once established as a risk factor, a genetic polymorphism has the potential to aid selective prophylaxis and therapy of disease. Numerous reports have now been published on polymorphisms of coagulation and fibrinolytic factors, of coagulation and fibrinolytic inhibitory proteins, and of platelet membrane glycoprotein receptors. This article describes the polymorphisms and evaluates the results of these studies using the premises of consistency of within-report genotype/phenotype/disease relationships and consistency of outcome between studies. Many studies have been only of association between polymorphisms and disease, a type of study that is prone to error. Furthermore, the collective outcome of these studies has primarily been inconsistent. It is concluded that despite the early promise of polymorphisms as risk factors, fresh approaches differing in scale and design are now required to clarify their possible importance.
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Kasyanov, E. D., T. V. Zhilyaeva e G. E. Maso. "Association of affective disorders and MTHFR, MTR, and MTRR gene polymorphisms: preliminary results of a family study". Neurology, Neuropsychiatry, Psychosomatics 14, n. 5 (21 ottobre 2022): 13–21. http://dx.doi.org/10.14412/2074-2711-2022-5-13-21.
Testo completoAbstract (sommario):
Genetic polymorphisms associated with impaired one-carbon metabolism (1-CM) can be a risk factor not only for somatic and neurological diseases, but also for affective disorders (AD).Objective: to compare the frequency of genetic polymorphisms MTHFR, MTR, MTRR associated with 1-CM disorders among patients with AD, their blood relatives and healthy individuals.Patients and methods. This cross-sectional study of the frequency of genetic polymorphisms (MTHFR, MTR, MTRR) associated with 1-CM included patients with AD (n=24), their blood relatives (n=40), as well as a group of healthy individuals (n=35). All study participants underwent a structured diagnostic interview, as well as genetic analysis using real-time polymerase chain reaction.Results and discussion. Patients with AD were statistically more likely to carry the minor allele C of the 1298A>C polymorphism of the MTHFR gene and the minor allele G of the 2756A>G polymorphism of the MTR gene compared to the group of healthy individuals. The minor allele T of the 677C>T polymorphism of the MTHFR gene was associated with longer depressive episodes, as well as with the presence of concomitant cardiovascular diseases in blood relatives of patients with AD.Conclusion. Genetic polymorphisms associated with 1-CM may contribute to familial aggregation of AD and somatic diseases. Further highquality family studies using molecular genetic methods are needed.
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KISELEVA, T. A., F. V. VALEEVA, D. R. ISLAMOVA e M. S. MEDVEDEVA. "Genetic aspects of type 2 diabetes mellitus". Practical medicine 21, n. 3 (2023): 14–18. http://dx.doi.org/10.32000/2072-1757-2023-3-14-18.
Testo completoAbstract (sommario):
Type 2 diabetes mellitus (DM2) is a polygenic, multifactorial disease resulting from the interaction of genetic, epigenetic and environmental factors. Given the significant genetic and genomic research in this area, the role of genetic factors in the pathogenesis of DM2 is becoming increasingly clear. The review presents current information in the genetics of DM2, describes the technology of genome wide-associated system (GWAS) based on high-resolution biochips for the simultaneous analysis of thousands of genetic variants in a large number of patients. Due to the use of genome-wide studies, about 100 genes and more than 700 polymorphisms associated with T2DM have been described. The review provides a description of the most common genes and their polymorphisms (TCF7L2, KCNJ11, PPARG) identified by the GWAS method and showing a strong association with T2DM in various populations. In addition, the article notes the role of the ADRB2 gene, whose polymorphisms can also contribute to the development of carbohydrate metabolism disorders. The results of a study on the assessment of the relationship between the rs1042714 ADRB2 polymorphism and indicators of carbohydrate metabolism in different periods of life of overweight and obese women are presented.
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Bouchet, Valérie, Heather Huot e Richard Goldstein. "Molecular Genetic Basis of Ribotyping". Clinical Microbiology Reviews 21, n. 2 (aprile 2008): 262–73. http://dx.doi.org/10.1128/cmr.00026-07.
Testo completoAbstract (sommario):
SUMMARY Nearly 2,000 ribotyping-based studies exist, ranging from epidemiology to phylogeny and taxonomy. None precisely reveals the molecular genetic basis, with many incorrectly attributing detected polymorphisms to rRNA gene sequences. Based on in silico genomics, we demonstrate that ribotype polymorphisms result from sequence variability in neutral housekeeping genes flanking rRNA operons, with rRNA gene sequences serving solely as conserved, flank-linked tags. We also reveal that from such an informatics perspective, it is readily feasible a priori to design an interpretable ribotyping scheme for a genomically sequenced microbial species, and we discuss limitations to the basic restriction fragment length polymorphism-based method as well as alternate PCR ribotyping-based schemes.
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Matsuo, Hitoshi, Tomonori Segawa, Sachiro Watanabe, Kimihiko Kato, Takeshi Hibino, Kiyoshi Yokoi, Sahoko Ichihara et al. "Assessment of genetic risk for myocardial infarction". Thrombosis and Haemostasis 96, n. 08 (2006): 220–27. http://dx.doi.org/10.1160/th06-02-0117.
Testo completoAbstract (sommario):
SummaryAlthough lifestyle and environmental factors influence the prevalence of myocardial infarction, genetic epidemiological studies have suggested that several genetic variants increase the risk for this condition. We have performeda large-scale association study to identify gene polymorphisms for reliable assessment of the genetic risk of myocardial infarction. The study population comprised 3,483 unrelated Japanese individuals (1,913 men; 1,570 women), including 1,192 subjects with myocardial infarction and 2,291 controls. The genotypes for 164 polymorphisms of 137 candidate genes were determined with an oligonucleotide ligation assay based on analysis of fluorescent microspheres with suspension array technology. Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hypercholesterolemia revealed that the 677C→T (Ala222Val) polymorphism of MTHFR, the 1595C→G (Ser447Stop) polymorphism of LPL, and the –108/3G→4G polymorphism of IPF1 were significantly associated with the prevalence of myocardial infarction. A stepwise forward selection procedure demonstrated that IPF1, MTHFR, and LPL genotypes significantly affected the prevalence of myocardial infarction. Combined genotype analysis of these polymorphisms yieldeda maximum odds ratio of 2.54 for the combined genotype of TT for MTHFR,CC for LPL,and 3G3G for IPF1.The genotypes for MTHFR, LPL, and IPF1 may prove reliable for assessment of genetic risk for myocardial infarction. Determination of the combined genotype for these genes may contribute to primary, personalized prevention of this condition.
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Angelova, Lyudmila, Maria Tsvetkova e Mariya Levkova. "CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE". Journal of IMAB - Annual Proceeding (Scientific Papers) 27, n. 4 (2 dicembre 2021): 4133–38. http://dx.doi.org/10.5272/jimab.2021274.4133.
Testo completoAbstract (sommario):
Chromosomal polymorphism is described as normal variants at chromosomal regions with no impact on the phenotype but a possible correlation to infertility and recurrent spontaneous abortions. The aim of this study was to evaluate the effect of the chromosomal polymorphisms involved in families with reproductive failures in the Bulgarian population. Material and methods: A total of 1733 patients with unexplained reproductive failures who visited the Laboratory of Medical Genetics – Varna, Bulgaria, (2004 - 2019) were investigated by conventional cytogenetic analysis GTG and CBG differential banding techniques and analyzed at the resolution 400-550 GTG bands. Results: Chromosomal polymorphisms were found in 173 infertile patients (9,98%). The sex distribution was 6,52% males and 3,46% females. The most frequent finding was inv(9)(qh) (23,7%). The other chromosomal variants, which were found, consisted: 9qh+/- variants (15,1%); polymorphisms on the short arms of the acrocentric chromosomes (21,4%); 16qh+ (12,7%) and 1qh+ (6,9%). Y chromosome polymorphism was found in 27,4% of the males with polymorphisms. Two rare cases of polymorphism involving the centromere regions - 19qcenh+ and 20pcenh+ were also found. Conclusion: There is growing evidence that polymorphisms may have a clinical impact on fertility and could take part in the etiology of RF. In this study, we found a significantly high percentage of polymorphisms (9,98%) among the tested patients, and they were more common among males. The statistical significance of increased incidence of chromosome variations found in our study emphasizes the need for routine evaluation of their role in families with RF in our country.
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Kobayashi, T., T. Nagata, S. Murakami, S. Takashiba, H. Kurihara, Y. Izumi, Y. Numabe et al. "Genetic Risk Factors for Periodontitis in a Japanese Population". Journal of Dental Research 88, n. 12 (5 novembre 2009): 1137–41. http://dx.doi.org/10.1177/0022034509350037.
Testo completoAbstract (sommario):
Genetic variants at multiple loci have been shown to be associated with susceptibility to periodontitis. To better assess the genetic risk factors for periodontitis, we performed a case-control study in 319 Japanese individuals with periodontitis (172 aggressive and 147 chronic disease) and 303 race-matched healthy control individuals. Thirty-five functional gene polymorphisms that had been previously associated with immune responses were genotyped. For all gene polymorphisms tested, no significant differences were observed in the allele frequencies of persons with aggressive, chronic, and combined (aggressive and chronic) periodontitis, compared with control individuals. Multiple logistic regression analysis revealed a significant association of the vitamin D receptor +1056 T/C polymorphism with susceptibility to chronic periodontitis, after adjustment for age, gender, and smoking status (P = 0.002). These results suggest that none of the polymorphisms tested was strongly associated with periodontitis in a Japanese population. However, the vitamin D receptor +1056 polymorphism may be related to chronic periodontitis.
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Kocabaş, Neslihan Aygün, e Bensu Karahalil. "XRCC1 Arg399Gln Genetic Polymorphism in a Turkish Population". International Journal of Toxicology 25, n. 5 (settembre 2006): 419–22. http://dx.doi.org/10.1080/10915810600870567.
Testo completoAbstract (sommario):
Humans are routinely exposed to mutagenic and carcinogenic chemicals. These chemicals can form DNA adducts in vivo and thus lead to DNA damage. The integrity of most of the so-damaged DNAs is typically restored as a consequence of the action of certain DNA-repairing enzymes. In several DNA repair genes, polymorphisms may result in reduced repair capacity, which has been implicated as a risk factor for various types of cancer. XRCC1 is a base-excision repair protein that plays a central role in the repair of DNA base damage and strand breaks. Amongst the known genetic polymorphisms of the DNA-repair genes, X-ray repair cross-complementing groups 1 and 3 ( XRCC1 and XRCC3) have been studied most commonly. Inconsistent results have been reported regarding the associations between the Arg399Gln (exon 10) polymorphism of XRCC1 and either functional significance or the risk of tobacco-associated cancers. The Gln allele of this polymorphism was associated with higher levels of DNA adducts. Therefore we genotyped one of the polymorphism of XRCC1, Gln allele. The frequency of the polymorphic alleles varies among populations, suggesting an ethnic distribution of genotypes. There has been no information on interindividual variability of Arg399Gln genotype in the Turkish population. Due to the association between the Arg399Gln polymorphism of XRCC1 and the risk of tobacco-associated cancers, we preferred to evaluate the allelic frequencies of Arg399Gln genotype than the other polymorphisms in XRCC1 gene in healthy Turkish population by polymerase chain reaction–restriction fragment polymorphism (PCR-RFLP) analysis to enable to show interindividual differences and compare to other populations.
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Weeden, Norman F., Bruce I. Reisch e Mary-Howell E. Martens. "Genetic Analysis of Isozyme Polymorphism in Grape". Journal of the American Society for Horticultural Science 113, n. 5 (settembre 1988): 765–69. http://dx.doi.org/10.21273/jashs.113.5.765.
Testo completoAbstract (sommario):
Abstract Genetic analysis of 11 allozyme polymorphisms was performed on the progeny of ‘Cayuga White’ × ‘Aurora’, two complex interspecific grape (Vitis) hybrids. Segregation for most of the polymorphisms closely approximated monogenic Mendelian ratios, and eight new isozyme loci were defined for grape. Joint segregation analysis among the isozyme loci revealed three multilocus linkage groups. These results demonstrate that sufficient allozyme polymorphism exists in grape to establish many multilocus linkage groups and that this genetic analysis can be accomplished using extant progeny or progeny readily produced from highly heterozygous clones.
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Miguita, K., Q. Cordeiro, R. G. Shavitt, E. C. Miguel e H. Vallada. "Association study between genetic monoaminergic polymorphisms and OCD response to clomipramine treatment". Arquivos de Neuro-Psiquiatria 69, n. 2b (2011): 283–87. http://dx.doi.org/10.1590/s0004-282x2011000300003.
Testo completoAbstract (sommario):
In the present paper, we investigated the 5HTTLPR and STin2 polymorphisms in the promoter region of the serotonin transporter gene (SLC6A4), the G861C polymorphism (rs6296) of the serotonin receptor 1D beta (HTR1B), the T102C (rs6113) and C516T (rs6305) polymorphisms of the serotonin receptor gene subtype 2A (HTR2A), the DAT UTR, DAT intron 8 and DAT intron 14 of the dopamine transporter gene (SLC6A3), the Val-158-Met (rs4680) polymorphism of the COMT and the silent mutation G1287A (rs5569) in the norepinephrine transporter gene (SLC6A2). We genotyped 41 obsessive-compulsive disorder (OCD) outpatients, classified as good-responders (n=27) and poor-responders (n=14) to treatment with clomipramine according to the Yale Brown Obsessive-Compulsive Scale (YBOCS). Patients who achieved a reduction in symptoms of 40% or more in YBOCS after 14 weeks of treatment were considered good-responders. Genotypes and alleles distribution of the investigated polymorphisms were compared between both groups. We did not find association between the studied polymorphisms and clomipramine response in our sample.
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Singh, Sanjay, Manish Gupta, Rajeev Kumar Seam e Harish Changotra. "E2F1 genetic variants and risk of cervical cancer in Indian women". International Journal of Biological Markers 33, n. 4 (24 aprile 2018): 389–94. http://dx.doi.org/10.1177/1724600818768459.
Testo completoAbstract (sommario):
Introduction: Altered expression of many E2F family members have been reported in various human cancers. In this study, we investigated the role of non-synonymous single nucleotide polymorphisms (rs3213172 C/T, rs3213173 C/T, and rs3213176 G/A) of the gene E2F1 with cervical cancer. Methods: A total of 181 samples including 90 cervical cancer patients and 91 healthy controls were genotyped. The genotype frequencies of these polymorphisms in collected samples were determined by either PCR-RFLP or PCR-ARFLP methods. SHEsis software was used to analyze the haplotypes. Results: Statistically significant differences in the alleles and the genotypes frequencies were observed in rs3213172 (C/T) and rs3213173 (C/T) polymorphisms. The rs3213172 (C/T) polymorphism was a risk factor for cervical cancer in dominant model (odds ratio (OR) 1.96; 95% confidence interval (CI) 1.07, 3.60; P = 0.02) and heterozygous model (OR 1.90; 95% CI 1.01, 3.57; P = 0.04). The rs3213173 (C/T) polymorphism increased the risk of cervical cancer in the homozygous model (OR 2.71; 95% CI 1.11, 6.58; P = 0.02). The rs3213176 (G/A) polymorphism was not associated with cervical cancer risk in any of the genotypic models. In the haplotypes analysis, three haplotypes (CTG, TCG, and TTA) were associated with the cervical cancer risk. Conclusions: These findings revealed that rs3213172 (C/T) and rs3213173 (C/T) polymorphisms and haplotypes (CTG, TCG, and TTA) of the E2F1 gene might play role in the susceptibility of cervical cancer. This is the first report showing an association of these polymorphisms with the cervical cancer risk.
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Sorokina, E. Yu, A. V. Pogozheva e D. B. Nikityuk. "Study of the association of gene polymorphism with the risk of non-communicable diseases in martial artists". Sports medicine: research and practice 11, n. 2 (22 settembre 2021): 25–33. http://dx.doi.org/10.47529/2223-2524.2021.2.5.
Testo completoAbstract (sommario):
Objective: to study the effect of genetic polymorphisms: rs rs9939609 (FTO gene), rs4994 (ADRB3 gene), rs1042713 (ADRB2 gene), rs2228570 (VDR gene), rs1801133 (MTHFR gene) on anthropometric and lipid metabolism indicators in athletes representing martial arts.Materials and methods: studies of anthropometric and biochemical parameters, genetic polymorphisms were carried out in 120 athletes (101 men and 19 women) who are engaged in martial arts. Anthropometric studies were performed by measuring height (cm), body weight (kg), followed by calculating body mass index (BMI, kg / m2). Biochemical nutritional status markers were determined using the ABX Pentra 400 analyzer (HORIBA ABX SAS, France) in an automatic mode. Genotyping was performed using allelespecific amplification using TaqMan probes complementary to polymorphic DNA regions and realtime detection of the results using reagent kits from Syntol, Russia. Studies were performed on the device CFX96 Real Time System (BioRad, USA). Statistical processing of the results was performed using the PASW Statistics 20 system.Results: as a result of generic Diovan athletes martial artists on the risk of noncommunicable diseases, discovered that the frequency of allele A of rs9939609 polymorphism of the FTO gene they have is 43.9 %, allele polymorphism rs4994 ADRB3 gene — 10.9 %, G allele of rs1042713 ADRB2 gene polymorphism — 52.6 %, G allele of the polymorphism rs2228570 VDR gene with 44.9 % and allele t of rs1801133 in the MTHFR gene to 36.7 %. An association was found between the value of anthropometric indicators in male martial artists and the presence of polymorphisms rs9939609 (FTO), rs1042713 (ADRB2) and rs2228570 (VDR).Conclusions: the reason for the identified dyslipidemia in martial artists may be not only the previously detected violations of the structure of their nutrition, but also the presence of certain genetic polymorphisms, in particular, rs4994 of the ADRB3 gene and rs1042713 of the ADRB2 gene.
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Taizhanova, Dana, Roza Bodaubay, Aliya Toleuova, Akerke Kalimbetova, Dmitriy Babenko, Anar Turmukhambetova, Ludmila Akhmaltdinova e Olga Visternichan. "Genetic Polymorphisms Association in Restenosis of Coronary Arteries". Open Access Macedonian Journal of Medical Sciences 8, B (25 agosto 2020): 666–72. http://dx.doi.org/10.3889/oamjms.2020.4505.
Testo completoAbstract (sommario):
BACKGROUND: There is a reason to believe that the polymorphism of genes encoding some enzymes and receptors plays a role in increasing of restenosis development risk. It is common knowledge that ethnicity affects the frequency of heterozygous genotypes occurrence. There is the evidence that polymorphism of the FGB gene (rs1800790) and THBD gene was determined in the ethnic group of Kazakhs with restenosis of the coronary arteries, which can be considered as genetic predictors of restenosis development. Today, the questions of the role of the genetic component in the development of coronary heart disease (CHD) remain open.
AIM: Evaluation of gene polymorphism in patients with restenosis of coronary arteries after stent installation.
MATERIALS AND METHODS: The group consisted of Kazakh population of the age category from 45 to 65 years of both sexes: Group I (50 persons) patients with a diagnosis of CHD, with a fixed stent and the development of restenosis during the year; Group 2 (58 persons) – with a fixed stent and no restenosis during the year. The association of genetic polymorphisms was evaluated in accordance with the case–control design based on the generalized linear model assuming a log-additive inheritance model.
RESULTS: Thus, when comparing two groups using five patterns of inheritance, the following SNP were revealed: Codominant inheritance pattern – rs1045642 (p = 0.0427), dominant inheritance pattern – rs12041331 (p = 0.036088), rs13431554 (p = 0.025461), and rs1045642 (p = 0.012774), and overdominant inheritance pattern – rs12041331 (p = 0.051736), rs5918 (p = 0.057652), and rs13431554 (р = 0.036006). Thus, three SNPs associated with stenting were identified: rs7543130 (p = 0.009324), rs6785930 (p = 0.016858), and rs7819412 (p = 0.061325) and two SNPs associated with the development of restenosis after stent placement: rs1061781 (p = 0.063184) and rs342293 (p = 0.061636).
CONCLUSION: The polymorphisms associated with the risk of developing restenosis after stenting were determined: Codominant inheritance pattern – one polymorphism (rs1045642, p = 0.0427); dominant inheritance pattern – three polymorphisms (rs12041331, p = 0.036088; rs13431554, p = 0.025461; rs1045642, p = 0.012774), and overdominant inheritance pattern – one polymorphism (rs13431554, p = 0.036006). Based on the hybrid machine learning approach (RuleFit), four rules were obtained for assessing the empirical risk of restenosis developing after stenting – from 20% to 40%.
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Novaković, Ivana, Nela Maksimović, Slobodan Cvetković e Dragana Cvetković. "Gene Polymorphisms as Markers of Disease Susceptibility". Journal of Medical Biochemistry 29, n. 3 (1 luglio 2010): 135–38. http://dx.doi.org/10.2478/v10011-010-0022-y.
Testo completoAbstract (sommario):
Gene Polymorphisms as Markers of Disease SusceptibilityThe most widespread diseases of modern man have a polygenic basis, including genetic predisposition and factors in the external environment. Such is the case with cardiovascular disease, malignancy, diabetes and so on. It should be borne in mind that risk factors usually include disorders that are themselves multifactorial, which further indicates the complexity of pathophysiological mechanisms. In the investigation of genetic factors in polygenic diseases studies are underway to determine the association with specific gene polymorphisms. Genetic or DNA polymorphisms are differences in the hereditary basis which are normally found in human populations. The human genome consists of 3×109nucleotide (base) pairs, and it is considered that, on average, every 1000th nucleotide is polymorphic, i.e. varies between two loci or two individuals. The most common type of gene polymorphisms is the single nucleotide polymorphism (SNP). Although gene polymorphisms are an expression of normal variations in the hereditary basis, their effect on the phenotype is interesting, especially the association with proneness to certain diseases. Association studies examine the incidence of certain genetic variants, i.e. genetic polymorphisms in a group of patients, and compare it with the data of a healthy population. The results are often contradictory, so the number of polymorphisms whose role as markers of genetic predisposition has been clearly confirmed is still small. In this paper we review literature data and present experiences from our laboratory in studying genetic polymorphisms as susceptibility factors for the occurrence of thrombophilia and atherosclerosis and its clinical manifestations.
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Canavy, I., M. Henry, P. E. Morange, L. Tiret, O. Poirier, A. Ebagosti, M. Bory e I. Juhan-Vague. "Genetic Polymorphisms and Coronary Artery Disease in the South of France". Thrombosis and Haemostasis 83, n. 02 (2000): 212–16. http://dx.doi.org/10.1055/s-0037-1613788.
Testo completoAbstract (sommario):
SummaryVascular disease is a multifactorial disease that involves atherosclerotic and thrombotic factors. Genetic polymorphisms have been associated with myocardial infarction and angina pectoris. The aim of the present study was to assess the relationship between some genetic polymorphisms and myocardial infarction (MI) or vasospastic angina pectoris in a population from southern France. Genetic polymorphisms of the renin angiotensin system (the D/I polymorphism of the ACE gene and the A1166C polymorphism of the angiotensin II type 1 receptor [AT1R]) and of haemostatic factors (the -675 4G/5G polymorphism of the plasminogen-activator inhibitor 1 [PAI-1] gene, and the G to T common point mutation in exon 2, codon 34 of the Factor XIII A-subunit gene) were examined.We assessed the genotype distribution in consecutive coronary artery disease (CAD) patients with MI (n = 201) and vasospastic angina pectoris (n = 43) and in 244 healthy controls comparable in age, sex, body mass index and total cholesterol level.The genotype distribution of AT1R polymorphism was significantly different between controls and patients, the prevalence of the C allele carriers being higher in patients with MI after the age of 45 than in control individuals (61 vs 45%, p <0.01), leading to an odds ratio (OR) of 2 (CI: 1.2-3.4). When looking at the group of patients with vasospastic angina the difference was even higher (76 vs 45%, p <0.01) yielding an OR of 4.3 (CI: 1.4-17.4). Genotype distributions of ACE, PAI-1 and Factor XIII polymorphisms were similar in patients and in controls.This study is in favor of a role of AT1R gene polymorphism in myocardial infarction and vasospastic angina.
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Calvano Küchler, E., J. Arid, M. Palinkas, M. Ayumi Omori, RM de Lara, LM Napolitano Gonçalves, SC Hallak Regalo, C. Paes Torres Mantovani, A. Rezende Vieira e K. Diaz-Serrano. "Genetic Polymorphisms in ACTN3 Contribute to the Etiology of Bruxism in Children". Journal of Clinical Pediatric Dentistry 44, n. 3 (1 gennaio 2020): 180–84. http://dx.doi.org/10.17796/1053-4625-44.3.8.
Testo completoAbstract (sommario):
Objective: Bruxism is a condition defined as a masticatory muscle activity with an unexplored genetic background. The aim of this study was to evaluate the association between genetic polymorphisms in ACTN3 and bruxism. Study design: A total of 151 biological-unrelated children, aged 7–12 years were included in a case control ratio of 1:1.5. The data collection was performed during interview and clinical examination. Saliva samples were collected from all children and 3 genetic polymorphisms in the ACTN3 (rs678397, rs1671064 and rs1815739) were selected for genotyping using real time PCR. Pearson chisquare calculation was used to assess Hardy-Weinberg equilibrium and to evaluate the association between genotypes and alleles frequencies for each genetic polymorphism in the co-dominant and recessive models. An alpha of 5% was used. Results: The genetic polymorphisms rs678397, rs1671064 and rs1815739 were associated with bruxism in the co-dominate model and in the recessive model (p<0.05). Allele distribution was also associated with bruxism for the polymorphisms rs678397 and rs1671064 (p<0.05). Conclusion: The genetic polymorphisms rs678397, rs1671064 and rs1815739 in ACTN3 are associated with bruxism and can contribute to the etiology of this condition in children.
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Zihlif, Malek, Amer Imraish, Baeth Al-Rawashdeh, Aya Qteish, Raihan Husami, Rawand Husami, Farah Tahboub, Yazun Jarrar e Su-Jun Lee. "The Association of IgE Levels with ADAM33 Genetic Polymorphisms among Asthmatic Patients". Journal of Personalized Medicine 11, n. 5 (22 aprile 2021): 329. http://dx.doi.org/10.3390/jpm11050329.
Testo completoAbstract (sommario):
Total serum immunoglobulin E (IgE) is elevated in multiple allergic diseases and is considered a good predictor of atopy. Several studies have been performed on the association of IgE levels with the polymorphism of the ADAM33 gene in asthmatic patients. The aim of this study was to determine whether there is an association between IgE levels and the genetic polymorphisms of the ADAM33 gene (T1, T2, T + 1, V4, S1, S2, and Q-1) in both healthy and asthmatic patients among Jordanians. The clinical data were collected for this case–control study from 267 asthmatic patients and 225 control subjects. Seven genetic polymorphisms (T1, T2, T + 1, V4, S1, S2, and Q-1) of the gene ADAM33 were analyzed using the polymerase chain reaction/restriction fragment length polymorphism method. The minor alleles (G) of T1, (A) of T2, T + 1, and (G) of V4 polymorphisms were associated with a significant increase in total serum IgE levels in adults but not children. The V4 genetic polymorphism, however, showed a significant association with IgE levels in both adults and children. The S1 polymorphism was significantly associated with the codominant module only in the adults. The S2 polymorphism showed a significant association (p-value < 0.05) in both codominant and recessive models. However, in the dominant model for both pediatric control and asthmatic patients, the association between the IgE and S2 polymorphism was insignificant (p-value = 0.7271 and 0.5259, respectively). This study found a statistically significant association between multiple ADAM33 genetic polymorphisms and IgE levels. Such findings add to the growing evidence that the ADAM33 gene has a major impact on IgE levels among asthmatic patients of Jordanian origin.
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Atmoko, Widi, Putu Angga Risky Raharja, Ponco Birowo, Agus Rizal Ardy Hariandy Hamid, Akmal Taher e Nur Rasyid. "Genetic polymorphisms as prognostic factors for recurrent kidney stones: A systematic review and meta-analysis". PLOS ONE 16, n. 5 (6 maggio 2021): e0251235. http://dx.doi.org/10.1371/journal.pone.0251235.
Testo completoAbstract (sommario):
Genetic polymorphisms have been suggested as risk factors affecting the occurrence and recurrence of kidney stones, although findings regarding the latter remain inconclusive. We performed this systematic review and meta-analysis to clarify the associations between genetic polymorphisms and recurrent kidney stones. PubMed, SCOPUS, EMBASE, and Cochrane Library databases were searched through May 28th, 2020 to identify eligible studies. The Quality in prognostic studies (QUIPS) tool was used to evaluate bias risk. Allelic frequencies and different inheritance models were assessed. All analyses were performed using Review manager 5.4. A total of 14 studies were included for meta-analysis, assessing urokinase (ApaL1) and vitamin D receptor (VDR) (ApaI, BsmI, FokI, and TaqI) gene polymorphisms. The ApaLI polymorphism demonstrated protective association in the recessive model [odds ratio (OR) 0.45, P < 0.01] albeit higher risk among Caucasians in the heterozygous model (OR 16.03, P < 0.01). The VDR-ApaI polymorphism showed protective association in the dominant model (OR 0.60, P < 0.01). Among Asians, the VDR-FokI polymorphism recessive model showed significant positive association (OR 1.70, P < 0.01) and the VDR-TaqI polymorphism heterozygous model exhibited protective association (OR 0.72, P < 0.01). The VDR-BsmI polymorphism was not significantly associated with recurrent kidney stones in any model. Urokinase-ApaLI (recessive model), VDR-ApaI (dominant model), and VDR-TaqI (heterozygous model) polymorphisms were associated with decreased recurrent kidney stone risk whereas urokinase-ApaLI (heterozygous model) and VDR-FokI polymorphisms were associated with increased risk among Caucasians and Asians, respectively. These findings will assist in identifying individuals at risk of kidney stone recurrence.
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Singh, Shweta, Gourdas Choudhuri e Sarita Agarwal. "Frequency of CFTR, SPINK1, and Cathepsin B Gene Mutation in North Indian Population: Connections between Genetics and Clinical Data". Scientific World Journal 2014 (2014): 1–6. http://dx.doi.org/10.1155/2014/763195.
Testo completoAbstract (sommario):
Objectives. Genetic mutations and polymorphisms have been correlated with chronic pancreatitis (CP). This study aims to investigate the association of genetic variants of cystic fibrosis transmembrane conductance regulator (CFTR) and serine protease inhibitor Kazal type 1 (SPINK-1) genes and Cathepsin B gene polymorphisms with CP and to associate genetic backgrounds with clinical phenotypes.Methods. 150 CP patients and 150 normal controls were enrolled consecutively. We analyzed SPINK-1 N34S and IVS3+2T>C gene mutations by PCR-restriction-fragment length polymorphism (RFLP). The identification of DF508, G551D, G542X, R117H, and W1282X mutations was carried out by ARMS-PCR. S549N mutation, IVS8 polyTn polymorphism, and Cathepsin B Lec26Val were analysed by PCR-RFLP, nested PCR, and PCR-RFLP plus sequencing, respectively.Results. We found a significant association of SPINK1 (N34S) gene polymorphism. IVS1−37T>C polymorphism shows linkage with 101A>G. 300 chromosomes belonging to the CFTR subgroup exhibited minor allele frequency of 0.04, 0.03, 0.03, 0.013, 0.006, and 0.02 for DF508, G452X, G551D, S549N, R117H, and IVS8 T5, respectively. Except for R117H and IVS8 T5 polymorphisms, all other mutations showed significant variation.Conclusion. Analysis of potential susceptibility variants is needed to support nature of the genes and environment in pancreatitis. This data may help establish genetic screening and prenatal setup for Indian population.
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SHIN, HYOUNG DOO, IL KIM, CHAN-BUM CHOI, SOO OK LEE, HYE WON LEE e SANG-CHEOL BAE. "Different Genetic Effects of Interferon Regulatory Factor 5 (IRF5) Polymorphisms on Systemic Lupus Erythematosus in a Korean Population". Journal of Rheumatology 35, n. 11 (novembre 2008): 2148–51. http://dx.doi.org/10.3899/jrheum.080124.
Testo completoAbstract (sommario):
ObjectiveIn an effort to replicate additional associations of interferon regulatory factor 5 (IRF5) polymorphisms with systemic lupus erythematosus (SLE) in an Asian population, we examined those genetic effects in a Korean SLE cohort.MethodsEach IRF5 polymorphism was genotyped in 1565 subjects using the TaqMan method and examined to determine whether it could explain the association with SLE.ResultsThree single-nucleotide polymorphisms (IRF5-15-1, rs2070197, and rs10488631), which showed strong and/or independent association in Caucasian populations, were not polymorphic in our Korean population. Association analysis revealed different genetic effects in Koreans compared with Caucasian populations. In addition, conditional analysis suggested independent genetic effects of 3 variant groups in the Korean population.ConclusionWe demonstrate different genetic effects of IRF5 polymorphisms on the risk of SLE according to ethnicity.
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Cambien, Francois, e Laurence Tiret. "Atherosclerosis: From Genetic Polymorphisms to System Genetics". Cardiovascular Toxicology 5, n. 2 (2005): 143–52. http://dx.doi.org/10.1385/ct:5:2:143.
Testo completo
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Shalimova, Anna, Galyna Fadieienko, Olena Kolesnikova, Anna Isayeva, Vira Zlatkina, Valeriya Nemtsova, Kostyantyn Prosolenko, Valentyna Psarova, Natalia Kyrychenko e Maryna Kochuieva. "The Role of Genetic Polymorphism in the Formation of Arterial Hypertension, Type 2 Diabetes and their Comorbidity". Current Pharmaceutical Design 25, n. 3 (30 maggio 2019): 218–27. http://dx.doi.org/10.2174/1381612825666190314124049.
Testo completoAbstract (sommario):
Background: Hereditary component plays a significant role in the formation of insulin resistance (IR) - one of the pathogenetic links of arterial hypertension (AH) and type 2 diabetes mellitus (DM2). However, the genetic predisposition to IR can not be realized and does not manifest itself clinically in the absence of appropriate factors of the environment (excessive nutrition, low physical activity, etc.). Objective: The review summarizes the results of studies which describe the contribution of genetic polymorphism to the formation and progression of AH, DM2 and their comorbidity in various populations. Results: In many studies, it has been established that genetic polymorphism of candidate genes is influenced by the formation, course and complication of AH and DM2. According to research data, the modulating effect of polymorphism of some genetic markers of AH and DM2 on metabolism and hemodynamics has been established. The results of numerous studies have shown a higher frequency of occurrence of AH and DM2, as well as their more severe course with adverse genetic polymorphisms. At the same time, the role of genetic polymorphism in the formation of AH and DM2 differs in different populations. Conclusion: Contradictory data on the influence of gene polymorphisms on the formation of AH and DM2 in different populations, as well as a small number of studies on the combined effects of several polymorphisms on the formation of comorbidity, determine the continuation of research in this direction.
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Editorial Staff. "Editor's Summaries of the Articles Published in This Issue of Precision Medicine Communications". Precision Medicine Communications 1, n. 1 (30 dicembre 2021): 03–04. http://dx.doi.org/10.55627/pmc.001.01.0076.
Testo completoAbstract (sommario):
In this issue, Rehman et al., investigate the possible association of genetic polymorphisms with the antiplatelet response to clopidogrel, Ullah and his colleagues review the single nucleotide polymorphism-based algorithms for warfarin dosing, Halima et al., discussed the Parkinson’s disease treatment and the role of genetic polymorphisms in the efficacy and adverse effects, and Inzemam and his colleagues reviewed the pharmacogenetics of fluoxetine, specifically discussing the genetic effects on its efficacy and adverse effects during treatment of the major depressive disorder.
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Calderón, Rosario, Ana M. Pérez-Miranda, Maria Fuciarelli, Giusepina Scano, Mónica Carrión, Miguel A. Alfonso-Sánchez, José A. Peña, Beatriz Ambrosio e GianFranco De Stefano. "Genetic polymorphisms in autochthonous Basques from Northern Navarre". Anthropologischer Anzeiger 64, n. 2 (21 giugno 2006): 173–87. http://dx.doi.org/10.1127/anthranz/64/2006/173.
Testo completo
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Bandazhevskyi, Yu I., e N. F. Dubova. "Genetic polymorphisms of the folate cycle and hyperhomocysteinemia in children from areas bordering the Chоrnobyl exclusion zone". Environment & Health, n. 3 (108) (settembre 2023): 11–18. http://dx.doi.org/10.32402/dovkil2023.03.011.
Testo completoAbstract (sommario):
The aim of the work is to establish a relationship between polymorphisms of the FC and the state of hyperhomocysteinemia in children living in areas bordering the ChEZ). Research methods: laboratory, genetic, mathematical-statistical. Results: The levels of homocysteine (Hcy) in blood and genetic polymorphisms of the folate cycle (FC) were determined in 690 children (322 boys and 368 girls) aged 8-17 years old living near the ChEZ. It was found that 97.8% of the children had genotypes with risk alleles of FC polymorphisms. The most common combinations of 2 and 3 polymorphic variants. The proportion of hyperhomocysteinemia cases was recorded in 62.5% of those examined and did not generally depend on the number of FC polymorphisms with risk alleles. Unlike their mothers, there was no correlation between blood Hcy concentration and the number of FC polymorphisms with risk alleles in children. The frequency of hyperhomocysteinemia cases in boys was likely higher than in girls. Hyperhomocysteinemia was detected in 40% of cases among children with no risk alleles for FC genetic polymorphisms. Genotypes with allele variants of one FC polymorphism were found in 15% of cases. High frequency of hyperhomocysteinemia was recorded both in the subgroup with T/T MTHFR:677 genotype and in most genetic subgroups. A high frequency of hyperhomocysteinemia, with four polymorphisms with risk alleles, was associated with compound heterozygotes A/CMTHFR:1298 and C/TMTHFR:677 in combination with A/G MTR genotypes: A2756G and G/G A66G. The homozygous variant of the neutral allele A of the MTRR:A66G genetic polymorphism, which controls methionine synthase reductase, contributed to the improvement of Hcy methylation processes in risk allele variants of three FC polymorphisms. Conclusions: The conducted studies indicate that in children of the second Chоrnobyl generation, who have been living in conditions of constant radiation exposure in areas affected by the Chоrnobyl accident since birth, the occurrence of hyperhomocysteinemia is not associated with a specific genotype and the number of FC polymorphisms with risk alleles. The results obtained indicate the participation of genetic and environmental factors in the occurrence of hyperhomocysteinemia in the population of children living in areas located near the ChEZ.
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Diao, Hong-Mei, Zheng-Feng Song e Hai-Dong Xu. "Association between MTHFR genetic polymorphism and Parkinson’s disease susceptibility: a meta-analysis". Open Medicine 14, n. 1 (17 agosto 2019): 613–24. http://dx.doi.org/10.1515/med-2019-0069.
Testo completoAbstract (sommario):
AbstractFolate metabolism plays quite a critical role in Parkinson’s disease (PD). Previous published research works have studied the link existing between the folate metabolism genetic polymorphisms and PD susceptibility; nevertheless, the results continue having controversies and inconclusiveness. Accordingly, we carried out the present meta-analysis for the assessment of the potential link between the folate metabolism genetic polymorphisms and the susceptibility to PD. In addition we carried out a literature search in the PubMed, EMBASE, Cochrane Library, and WanFang databases till November 10, 2018. The odds ratios (ORs) with corresponding 95% credible interval (95%CI) were put to use for evaluating the strength of the association of three folate metabolism genetic polymorphism ( C677T, A1298C, and A2756G) with the susceptibility to PD. Each statistical analysis was carried out with the use of STATA 15.0. An aggregate of twenty-one case-control investigations were retrieved, which involved 3,944 PD patients and 4,412 controls. We discovered the existence of no substantial link between the C677T and A1298C polymorphism and PD risk in any genetic framework comparisons. With regard to A2756G polymorphism, we discovered that there was an association between the A2756G genetic polymorphism and an augmented threat of PD in the co-dominant genetic framework (GG vs. AA: OR=1.86, 95%CI=1.02-3.37, P=0.042) and the recessive genetic model (GG vs. GA+AA: OR=1.90, 95%CI=1.06-3.41, P=0.031). To summarize, our research work indicates that the A2756G polymorphism of the folate metabolism gene had an association with an augmented threat of PD. Also, A1298C polymorphisms is unlikely to significantly contribute towards the susceptibility to PD. Further large-scale case-control studies are still required.
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Ayesh, Hazem, Sajida S. Ayesh, Azizullah Beran e Suhail Ayesh. "Association of NOS3 and TNF Genetic Polymorphisms With the Predisposition to Elevated Cholesterol, Retrospective Study". Journal of the Endocrine Society 5, Supplement_1 (1 maggio 2021): A33. http://dx.doi.org/10.1210/jendso/bvab048.064.
Testo completoAbstract (sommario):
Abstract Background: Endothelial nitric oxide synthetase (eNOS) encoded by NOS3 gene has an important role in modulating vascular endothelial function. TNFα gene is responsible for coding TNFα protein that plays a significant role in regulating body inflammation and lipid metabolism. Many studies reported an association between NOS3 and TNFα genetic polymorphisms and elevated total cholesterol (TC) level, low-density lipoprotein (LDL), triglyceride (TG). In this study, we investigated the association of NOS3 (G>T) rs1799983 and TNFα -308G>A rs1800629 genetic polymorphisms with TC level. Methods: A random sample of 250 subjects with an elevated TC level (defined by TC level ≥ 200mg/dL) compared with 500 healthy subjects. Sample obtained from Palestinian adults who consented to genetic and biochemical testing. Subjects genotyped for NOS3 SNP (G > T) rs1799983 and TNFα -308G>A rs1800629 using ARMS PCR. TC level was obtained for all subjects. Logistic regression analysis adjusted for age and body mass index (BMI) was performed to test for association between NOS3 and TNFα genetic polymorphisms and TC level. Results: NOS3 T allele was significantly more frequent in the elevated TC group, (odds ratio = 1.8, 95% CI =1.02–3.18) with likelihood ratio statistically significant (P = 0.004). Homozygous TNFα variant was more frequent in the elevated cholesterol group without a statistically significant association (P = 0.54). Discussion: Many studies reported an association between NOS3 and TNFα genetic polymorphisms and elevated TC levels. Homozygous NOS3 variant was associated with a 1.8-fold increase in the risk of high TC after adjustment for age and BMI. TNFα polymorphism didn’t show a statistically significant association with having elevated TC levels. With the increasing popularity and availability of genetic testing, NOS3 can serve as a screening tool to identify people with high risk for elevated TC. Further studies are required to understand the exact role of NOS3 genetic polymorphism in cholesterol metabolism. Conclusion: NOS3 genetic polymorphism had a statistically significant relationship with TC levels. These results support the association between NOS3 polymorphism and elevated TC.
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Celec, Peter, Daniela Ostatníková, Zuzana Holešová, Gabriel Minárik, Andrej Ficek, Silvia Kelemenová, Zdeněk Putz e Matúš Kúdela. "Spatial Abilities in Prepubertal Intellectually Gifted Boys and Genetic Polymorphisms Related to Testosterone Metabolism". Journal of Psychophysiology 23, n. 1 (gennaio 2009): 1–6. http://dx.doi.org/10.1027/0269-8803.23.1.1.
Testo completoAbstract (sommario):
Spatial abilities are known to be related to testosterone levels in men. Polymorphisms of genes related to androgen metabolism, however, have not been previously analyzed in association with spatial abilities. Our study analyzes genetic polymorphisms of androgen receptor (AR), aromatase (CYP19), and 5-alpha reductase (SRD5A2) in relation to mental rotation and spatial visualization in prepubertal intellectually gifted boys. DNA samples of 36 boys with an average age of 10.0 ± 0.7 years and an IQ higher than 130 were isolated from buccal cells in saliva. DNA was subsequently used for amplification by PCR. The CYP19 C1558-T polymorphism and SRD5A2 A49T polymorphism were determined by RFLP analysis, and the AR (CAG)n polymorphism was determined by fragment analysis. Salivary testosterone levels were measured with radioimmunoassay. Spatial abilities (mental rotation and spatial visualization) were assessed using standard psychometric tests. AR and CYP19 polymorphisms were not associated with spatial abilities. Heterozygotes in A49T polymorphisms (AT) of SRD5A2 had significantly better results in both mental rotation and spatial visualization tests compared to AA homozygotes. TT homozygotes were not found. The T allele of A49T polymorphism of the SRD5A2 was reported to have a 5-fold increased activity in comparison to the A allele. AT heterozygotes outscored AA homozygotes in tests of spatial performance. Since dihydrotestosterone – the product of 5-alpha reductase catalyzed reaction – has a higher affinity to AR, this might indicate a potential molecular mechanism for the influence of SRD5A2 polymorphism on spatial abilities in intellectually gifted prepubertal boys.
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Yvert, Thomas, Catalina Santiago, Elena Santana-Sosa, Zoraida Verde, Felix Gómez-Gallego, Luis Lopez-Mojares, Margarita Pérez, Nuria Garatachea e Alejandro Lucia. "Physical-Capacity-Related Genetic Polymorphisms in Children with Cystic Fibrosis". Pediatric Exercise Science 27, n. 1 (febbraio 2015): 102–12. http://dx.doi.org/10.1123/pes.2014-0050.
Testo completoAbstract (sommario):
In patients with cystic fibrosis (CF), physical capacity (PC) has been correlated with mortality risk. In turn, PC is dependent on genetic factors. This study examines several polymorphisms associated with PC and healthrelated phenotype traits (VO2peak, FEV1, FVC, PImax and muscular strength) in a group of children with CF (n = 66, primary purpose). The same analyses were also performed in a control group of healthy children (n = 113, secondary purpose). The polymorphisms determined were classified as muscle function polymorphisms (ACE rs1799752; AGT rs699; ACTN3 rs1815739; PTK2 rs7843014 and rs7460; MSTN rs1805086; TRHR rs7832552; NOS3 rs2070744) or energy metabolism polymorphisms (PPARGC1A rs8192678; NRF1 rs6949152; NRF2 rs12594956; TFAM rs1937; PPARD rs2267668; ACSL1 rs6552828). No significant polymorphism/phenotype correlations were detected in children with CF, with marginal associations being observed between NOS3 rs2070744 and VO2peak and FEV1, as well as between PPARGC1A rs8192678 and FEV1. Overall, similar findings were observed in the control group, i.e., no major associations. The PC-related polymorphisms examined seem to have no effects on the PC or health of children with CF.
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Kuramochi, Hidekazu, Hitoshi Kanno, Tomotaka Uchiyama, Go Nakajima, Kayoko Saito e Kazuhiko Hayashi. "Comprehensive analysis of genetic polymorphisms and irinotecan-induced adverse events in Japanese gastrointestinal cancer patients: A DMET microarray profiling study." Journal of Clinical Oncology 30, n. 15_suppl (20 maggio 2012): e21108-e21108. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.e21108.
Testo completoAbstract (sommario):
e21108 Background: Irinotecan is a key drug in the treatment of colorectal and gastric cancer, that may occasionally cause severe adverse events (AEs), especially neutropenia and diarrhea. Although UDP-glucuronosyltransferase (UGT)1A1 polymorphisms are used as biomarkers for predicting AEs, the effect of UGT1A1 polymorphism in clinical use is limited, suggesting that there is a possibility of the existence of other, unknown biomarkers. Methods: Fourteen gastrointestinal cancer (5 gastric, 9 colorectal) patients who had undergone irinotecan-based chemotherapy were enrolled. DNA extracted from peripheral blood cells was genotyped by the DMET Plus microarray system, and 1,931 gene polymorphisms were investigated. The relationship between AEs and polymorphisms was analyzed statistically. Results: Eleven polymorphisms showed the P value < 0.05 with grade 3,4 neutropenia, but no statistically significant polymorphisms were found after the correction of multiple comparisons. With respect to the association with diarrhea, 12 polymorphisms showed P <0.05, and even after the correction of multiple comparisons, CYP2F1_96G>A(P32P) showed a significant relationship (P<0.00001). With respect to the relationship between UGT1A1*6, *28 polymorphisms and AEs, *6 polymorphism showed significant (P=0.044) association with grade 4 neutropenia. Conclusions: CYP2F1_96G>A showed significant association with diarrhea. The association of UGT1A1*6 polymorphism and neutropenia was confirmed, as in previous reports.
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Chumakova, G. A., A. P. Momot, A. A. Kozarenko e N. G. Veselovskaya. "Genetic predisposition to atherothromboses in patients with severe angina pectoris". CardioSomatics 1, n. 1 (15 marzo 2010): 80–83. http://dx.doi.org/10.26442/cs44989.
Testo completoAbstract (sommario):
Objective. To study the prevalence of thrombosis allelic polymorphisms in patients with severe angina who have indications for myocardial revascularization. Design and methods. The study included 105 patients (87 men and 18 women) aged from 33 to 70 years who had angina III–IV functional class, with indications for myocardial revascularization. All the patients studied polymorphism of the inhibitor of tissue plasminogen activator I type (675 4G/5G) (PAI-I), mutations of the factor II-prothrombin (20210 G / A), mutations of the factor V Leiden (Arg 506 Gln) and polymorphism of the methylenetetrahydrofolate reductase (Ala 222 Val) (MTHFR). Results. The prevalence of these mutations and polymorphisms in patients with severe angina requiring revascularization of the myocardium in 3 times greater than in the group of healthy adolescents. Our data showed that the risk of severe angina is directly proportional, and the age of the clinical debut of CHD is inversely proportional to the number of studied genetic defects. Thrombophilic polymorphisms studied genes increases the effects of other cardiovascular risk factors such as male sex, smoking and leads to an earlier debut of clinical CHD. Conclusion. It is necessary to form the strategy of genetically-based population policy for the prevention of atherosclerosis, including coronary. Healthy persons with diagnosed thrombosis polymorphisms are need of active primary prevention of cardiovascular disease.
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Traspov, AA, MM Minashkin, SV Poyarkov, AG Komarov, IA Shtinova, GI Speshilov, IA Karbyshev, NV Pozdniakova e MA Godkov. "The rs17713054 and rs1800629 polymorphisms of genes LZTFL1 and TNF are associated with COVID-19 severity". Bulletin of Russian State Medical University, n. 2022(6) (dicembre 2022): 92–97. http://dx.doi.org/10.24075/brsmu.2022.065.
Testo completoAbstract (sommario):
Both genetic and non-genetic factors are responsible for high interindividual variability in response to SARS-CoV-2. Despite the fact that multiple genetic polymorphisms have been identified as risk factors of severe COVID-19, such polymorphisms are still insufficiently studied in the Russian population. The study was aimed to identify genetic determinants associated with severe COVID-19 in the sample of patients from the Russian Federation. The correlation of the rs17713054 polymorphism in gene LZTFL1 and rs1800629 polymorphism in gene TNF (tumor necrosis factor) with the COVID-19 severity was assessed. DNA samples obtained from 713 patients (324 males and 389 females) aged 18‒95 with COVID-19 of varying severity were analyzed. The rs1800629 polymorphism of gene TNF (OR = 1.5; p = 0.02) and rs17713054 polymorphism of gene LZTFL1 (OR = 1.60; p = 0.0043) were identified as risk factors of severe disease. The TNF polymorphism rs1800629 and LZTFL1 polymorphism rs17713054 could be considered as potential predictive biomarkers. The rs17713054 G > A polymorphism was strongly associated with severe disease. In the future the findings may provide the basis for the development of test-systems for prediction of the risk of severe viral respiratory diseases.
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Miyairi, Isao, e John P. DeVincenzo. "Human Genetic Factors and Respiratory Syncytial Virus Disease Severity". Clinical Microbiology Reviews 21, n. 4 (ottobre 2008): 686–703. http://dx.doi.org/10.1128/cmr.00017-08.
Testo completoAbstract (sommario):
SUMMARY To explain the wide spectrum of disease severity caused by respiratory syncytial virus (RSV) and because of the limitations of animal models to fully parallel human RSV disease, study of genetic influences on human RSV disease severity has begun. Candidate gene approaches have demonstrated associations of severe RSV in healthy infants with genetic polymorphisms that may alter the innate ability of humans to control RSV (surfactants, Toll-like receptor 4, cell surface adhesion molecules, and others) and those that may control differences in proinflammatory responses or enhanced immunopathology (specific cytokines and their receptors). These studies are reviewed. They are valuable since an understanding of the direction of a polymorphism's effect can help construct a meaningful human RSV disease pathogenesis model. However, the direction, degree, and significance of the statistical association for any given gene are equivocal among studies, and the functional significance of specific polymorphisms is often not even known. Polymorphism frequency distribution differences associated with RSV infection arising from diversity in the genetic background of the population may be confounded further by multiple-hypothesis testing and publication bias, as well as the investigator's perceived importance of a particular pathogenic disease process. Such problems highlight the limitation of the candidate gene approach and the need for an unbiased large-scale genome-wide association study to evaluate this important disease.
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Ito, Soichiro, Takeshi Hirota, Miyu Yanai, Mai Muto, Eri Watanabe, Yuki Taya e Ichiro Ieiri. "Effects of Genetic Polymorphisms of Cathepsin A on Metabolism of Tenofovir Alafenamide". Genes 12, n. 12 (20 dicembre 2021): 2026. http://dx.doi.org/10.3390/genes12122026.
Testo completoAbstract (sommario):
Cathepsin A (CatA) is important as a drug-metabolizing enzyme responsible for the activation of prodrugs, such as the anti-human immunodeficiency virus drug Tenofovir Alafenamide (TAF). The present study was undertaken to clarify the presence of polymorphisms of the CatA gene in healthy Japanese subjects and the influence of gene polymorphism on the expression level of CatA protein and the drug-metabolizing activity. Single-strand conformation polymorphism method was used to analyze genetic polymorphisms in healthy Japanese subjects. Nine genetic polymorphisms were identified in the CatA gene. The polymorphism (85_87CTG>-) in exon 2 was a mutation causing a deletion of leucine, resulting in the change of the leucine 9-repeat (Leu9) to 8-repeat (Leu8) in the signal peptide region of CatA protein. The effect of Leu8 on the expression level of CatA protein was evaluated in Flp-In-293 cells with a stably expressed CatA, resulting in the expression of CatA protein being significantly elevated in variant 2 with Leu8 compared with Leu9. Higher concentrations of tenofovir alanine (TFV-Ala), a metabolite of TAF, were observed in the Leu8-expressing cells than in the Leu9-expressing cells using LC/MS/MS. Our findings suggest that the drug metabolic activity of CatA is altered by the genetic polymorphism.
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Sufiawati, Irna, Risti Saptarini e Eriska Riyanti. "HUBUNGAN POLIMORFISME GEN RESEPTOR ESTROGEN ALFA DENGAN JUMLAH SEL T CD4+ PADA ANAK TERINFEKSI HIV". ODONTO : Dental Journal 4, n. 2 (1 dicembre 2017): 94. http://dx.doi.org/10.30659/odj.4.2.94-100.
Testo completoAbstract (sommario):
Background: Estrogen plays a key role in human physiological processes. Polymorphisms of estrogen receptors have been implicated in the development of numerous diseases. The aim of this study was to evaluate the frequency of ERα gene Pvull and Xbal polymorphisms and assessing their association with CD4+ T-cell counts in HIV-infected children on highly active antiretroviral therapy.Methods: CD4+ T cell counts were determined using the FACS count system. ERα PvuII and XbaI polymorphisms were analyzed by PCR-RFLP.Results: This study enrolled 34 HIV-infected children on HAART. The frequencies of the PvuII and XbaI gene polymorphisms were PP 41,2%, Pp 26,5%, pp 32,4% and XX 35,3%, Xx 17,6%, xx 47,1% respectively. CD4+ T-cell counts were significantly associated with XbaI polymorphisms (p<0.05), but not PvuII polymorphisms (p>0.01).Discussion: Host genetic factor polymorphism is an important determinant of HIV disease progression and treatment response. The ERα Pvull and Xbal polymorphisms can increase risk for the development of HIV-related complication,including oral diseases.Conclusion: The ERα gene XbaI polymorphism was significantly associated with CD4+ T-cell counts. It may explain the role of estrogen in the regulation of HIV replication. Studying human genetic variation in HIV-infected individuals is important to guide a new therapeutic approach.
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Ward, Roger. "Genetic polymorphisms and additive genetic models". Behavior Genetics 15, n. 6 (novembre 1985): 537–48. http://dx.doi.org/10.1007/bf01065449.
Testo completo
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Chauhan, Jyoti, Rajiv Ahluwalia e Tina Chugh. "Association of genetic polymorphism in orthodontically induced external apical root resorption- “A Narrative Review”". Santosh University Journal of Health Sciences 10, n. 1 (gennaio 2024): 111–15. http://dx.doi.org/10.4103/sujhs.sujhs_35_24.
Testo completoAbstract (sommario):
ABSTRACT Orthodontically induced external apical root resorption (OIEARR) is a common complication associated with orthodontic treatment, with genetic factors playing a significant role in its etiology. This article aimed to review the available literature on OIEARR and it is association with genetic polymorphisms. Various electronic databases were searched for cross-sectional, prospective, and retrospective longitudinal studies, randomized controlled trials, and reviews and meta-analyses to determine the impact of genetic polymorphism and OIEAAR only the articles available in English-language were included in the study. In conclusion, this narrative review provides evidence supporting the role of genetic polymorphisms in the susceptibility to OIEARR during orthodontic treatment, highlighting the importance of personalized treatment approaches and genetic screening in orthodontic practice. This revealed a significant association with specific genetic polymorphisms and the susceptibility to OIEARR. Further studies incorporating larger sample sizes and diverse populations are warranted to validate these findings and facilitate the development of targeted interventions for preventing or minimizing OIEARR in orthodontic patients.
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Naranjo-Galvis, C. A., A. de-la-Torre, L. E. Mantilla-Muriel, L. Beltrán-Angarita, X. Elcoroaristizabal-Martín, R. McLeod, N. Alliey-Rodriguez et al. "Genetic Polymorphisms in Cytokine Genes in Colombian Patients with Ocular Toxoplasmosis". Infection and Immunity 86, n. 4 (5 febbraio 2018): e00597-17. http://dx.doi.org/10.1128/iai.00597-17.
Testo completoAbstract (sommario):
ABSTRACT Toxoplasmosis is caused by infection with the protozoan parasite Toxoplasma gondii, which has the capacity to infect all warm-blooded animals worldwide. Toxoplasmosis is a major cause of visual defects in the Colombian population; however, the association between genetic polymorphisms in cytokine genes and susceptibility to ocular toxoplasmosis has not been studied in this population. This work evaluates the associations between polymorphisms in genes coding for the cytokines tumor necrosis factor alpha (TNF-α) (rs1799964, rs1800629, rs1799724, rs1800630, and rs361525), interleukin 1β (IL-1β) (rs16944, rs1143634, and rs1143627), IL-1α (rs1800587), gamma interferon (IFN-γ) (rs2430561), and IL-10 (rs1800896 and rs1800871) and the presence of ocular toxoplasmosis (OT) in a sample of a Colombian population (61 patients with OT and 116 healthy controls). Genotyping was performed with the “dideoxynucleotide (ddNTP) primer extension” technique. Functional-effect predictions of single nucleotide polymorphisms (SNPs) were done by using FuncPred. A polymorphism in the IL-10 gene promoter (−1082G/A) was significantly more prevalent in OT patients than in controls (P = 1.93e−08; odds ratio [OR] = 5.27e+03; 95% confidence interval [CI] = 3.18 to 8.739; Bonferroni correction [BONF] = 3.48e−07). In contrast, haplotype “AG” of the IL-10 gene promoter polymorphisms (rs1800896 and rs1800871) was present at a lower frequency in OT patients (P = 7e−04; OR = 0.10; 95% CI = 0.03 to 0.35). The +874A/T polymorphism of IFN-γ was associated with OT (P = 3.37e−05; OR = 4.2; 95% CI = 2.478 to 7.12; BONF = 6.07e−04). Haplotype “GAG” of the IL-1β gene promoter polymorphisms (rs1143634, rs1143627, and rs16944) appeared to be significantly associated with OT (P = 0.0494). The IL-10, IFN-γ, and IL-1β polymorphisms influence the development of OT in the Colombian population.
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Delvecchio, G., M. Bellani, A. C. Altamura e P. Brambilla. "The association between the serotonin and dopamine neurotransmitters and personality traits". Epidemiology and Psychiatric Sciences 25, n. 2 (11 gennaio 2016): 109–12. http://dx.doi.org/10.1017/s2045796015001146.
Testo completoAbstract (sommario):
Evidence from previous studies has reported that complex traits, including psychiatric disorders, are moderately to highly heritable. Moreover, it has also been shown that specific personality traits may increase the risk to develop mental illnesses. Therefore the focus of the research shifted towards the identification of the biological mechanisms underpinning these traits by exploring the effects of a constellation of genetic polymorphisms in healthy subjects. Indeed, studying the effect of genetic variants in normal personality provides a unique means for identifying candidate genes which may increase the risk for psychiatric disorders. In this review, we discuss the impact of two of the most frequently studied genetic polymorphisms on personality in healthy subjects, the 5-HTT polymorphism of the serotonin transporter and the DRD2/DRD4 polymorphisms of the D2/D4 dopamine's receptors. The main aims are: (a) to highlight that the study of candidate genes provides a fruitful ground for the identification of the biological underpinnings of personality without, though, reaching a general consensus about the strength of this relationship; and (b) to outline that the research in personality genetics should be expanded to provide a clearer picture of the heritability of personality traits.
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Campbell, Rebecca, e Jennifer Beall. "Pharmacogenomics of lamotrigine: a possible link to serious cutaneous adverse reactions". Mental Health Clinician 5, n. 2 (1 marzo 2015): 78–81. http://dx.doi.org/10.9740/mhc.2015.03.078.
Testo completoAbstract (sommario):
Abstract Introduction Lamotrigine's packaging contains a boxed warning for serious skin reactions, including Stevens-Johnson syndrome and toxic epidermal necrolysis. The purpose of this review is to summarize literature pertaining to HLA genetic polymorphisms that may increase susceptibility to serious skin reactions induced by lamotrigine. Methods A literature search of PubMed/MEDLINE and Ovid IPA was conducted using the following search terms: lamotrigine, genetic polymorphism, pharmacogenetics, pharmacogenomics, predictive genetic testing, anticonvulsants, hypersensitivity, and HLA-B. Results Three case-control studies were identified focusing on genetic polymorphisms that can cause direct susceptibility to serious skin reactions, such as HLA-B*1502. Other factors were also taken into consideration, such as age, concomitant medications, ethnicity, and smoking status. Most results were not statistically significant but rather hypothesis generating and were limited by small sample size and study design. Discussion Further studies are needed to better determine a relationship between genetic polymorphisms and lamotrigine-induced serious skin reactions. However, clinicians should exercise caution when prescribing lamotrigine to patients in whom relevant genetic polymorphisms, such as HLA-B*1502, may be present, such as those of Southeast Asian descent.
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Cordeiro, Quirino, Ricardo Noguti, Cássio M. C. Bottino e Homero Vallada. "Study of association between genetic polymorphisms of phospholipase A2 enzymes and Alzheimer's disease". Arquivos de Neuro-Psiquiatria 68, n. 2 (aprile 2010): 189–93. http://dx.doi.org/10.1590/s0004-282x2010000200007.
Testo completoAbstract (sommario):
Several genes have been related to late-onset Alzheimer's disease (LOAD). Phospholipases A2 (PLA2) influence the processing and secretion of the amyloid precursor protein, which gives rise to the beta-amyloid peptide, the major component of the amyloid plaque in AD. Hence, in the present study, polymorphisms of three genes encoding PLA2 enzymes group (cytosolic PLA2: BanI cPLA2 polymorphism; calcium-independent PLA2: AvrII iPLA2 polymorphism; PAFAH: Val279Phe PAFAH polymorphism) were analysed in a case-control sample using 58 patients with LOAD and 107 matched healthy controls. There was a genotypic association between the BanI cPLA2 polymorphism and LOAD (χ2=6.25, 2df, p=0.04), however there was no allelic association. There were no associations between AvrII iPLA2 and Val279Phe PAFAH polymorphisms and LOAD. These data suggest that the BanI cPLA2 polymorphism may play a role in the susceptibility for LOAD in our Brazilian sample.
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Shu, Yi, Youping Chen, Haizhao Luo, Huixian Li, Jielong Tang, Yunyi Liang e Weiqiang Liang. "The Roles of IL-10 Gene Polymorphisms in Diabetes Mellitus and Their Associated Complications: A Meta-Analysis". Hormone and Metabolic Research 50, n. 11 (17 settembre 2018): 811–15. http://dx.doi.org/10.1055/a-0651-5051.
Testo completoAbstract (sommario):
AbstractThe roles of interleukin-10 (IL-10) gene polymorphisms in diabetes mellitus (DM) have been intensively analyzed earlier, but the results of these studies were conflicting. Hence, we performed this study to better assess the relationship between IL-10 genetic variations and DM. Eligible studies were searched in PubMed, Medline, Embase, and Web of Science. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to assess correlations between IL-10 polymorphisms and DM. A total of 32 studies were finally included in our analyses. Significant associations with the risk of DM were detected for the rs1800871, rs1800872, and rs1800896 polymorphisms. As for complications in DM, significant association with the risk of diabetic nephropathy (DN) was detected for the rs1800871 polymorphism. In addition, we also found that the rs1800896 polymorphism was significantly associated with the risk of diabetic retinopathy (DR). Further stratified analyses on the basis of type of disease demonstrated that the positive results were predominantly driven by the T2DM subgroup. When we stratified data based on ethnicity of participants, we found that the rs1800871 polymorphism was significantly correlated with DM in Caucasians, the rs1800872 polymorphism was significantly correlated with DM in Asians, and the rs1800896 polymorphism was significantly correlated with DM in both Caucasians and Asians. Our findings indicate that rs1800871, rs1800872, and rs1800896 polymorphisms may serve as genetic biomarkers of DM. Moreover, the rs1800871 and rs1800896 polymorphisms may also contribute to the development of complications in DM.
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Li, Xiaoqing, Yong Lin e Ruizhi Zhang. "Associations between endothelial nitric oxide synthase gene polymorphisms and the risk of coronary artery disease: A systematic review and meta-analysis of 132 case-control studies". European Journal of Preventive Cardiology 26, n. 2 (30 novembre 2018): 160–70. http://dx.doi.org/10.1177/2047487318780748.
Testo completoAbstract (sommario):
The roles of endothelial nitric oxide synthase gene polymorphisms in coronary artery disease have been intensively analyzed, with inconsistent results. Therefore, we performed this study to better assess the relationship between endothelial nitric oxide synthase genetic variations and the risk of coronary artery disease. Eligible studies were searched in PubMed, Medline, Embase, and Web of Science. Odds ratios with 95% confidence intervals were used to evaluate associations between endothelial nitric oxide synthase polymorphisms and coronary artery disease. A total of 132 genetic association studies were finally included. Significant associations with the risk of coronary artery disease were detected for the rs891512, rs1799983, rs2070744, rs11771443 and rs869109213 polymorphisms. Further subgroup analyses according to ethnicity of participants revealed that the rs1799983 and rs2070744 polymorphisms were significantly associated with the risk of coronary artery disease in both Caucasians and Asians, whereas the rs869109213 polymorphism was only associated with the risk of coronary artery disease in Caucasians. When we stratified data based on type of disease, we found that the rs1799983, rs2070744 and rs869109213 polymorphisms were all significantly correlated with the risk of myocardial infarction or acute coronary syndrome in certain genetic models. In conclusion, our findings indicate that the rs891512, rs1799983, rs2070744, rs11771443 and rs869109213 polymorphisms may serve as genetic biomarkers of coronary artery disease.