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Articoli di riviste sul tema "Polymorphisme social"

Autore: Grafiati

Pubblicato: 12 ottobre 2024

Ultima modifica: 31 luglio 2025

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Johal, Gurinder, and Adam Amlani. "Integrating Pharmacogenomics into Clinical Practice." University of Ottawa Journal of Medicine 6, no. 1 (2016): 21–23. http://dx.doi.org/10.18192/uojm.v6i1.1549.

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Pharmacogenomics has the potential to improve patient-centered care and lead to an overall decrease in healthcare costs. This would be achieved through fewer hospitalizations due to adverse drug reactions, individualized and effective therapies, and decreased drug development costs with single nucleotide polymorphism pre-screening. Although challenges do exist in encouraging the use of pharmacogenomics―specifically in regards to resources, regulation, and impacts on the pharmaceutical industry―the benefits may outweigh the costs in terms of patient health and safety. In implementing pharmaco

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

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Il est établi que les facteurs de risque sociaux jouent un rôle important dans la genèse et le maintien des troubles mentaux. Les modèles animaux nous indiquent que les expériences précoces d’adversité sociale peuvent avoir des effets à long terme à travers un « conditionnement biologique » et que le cerveau serait « modelé » par les facteurs environnementaux. En effet, des expériences sociales négatives très précoces peuvent avoir de profonds impacts durant les périodes de haute plasticité cérébrale lors de la vie prénatale et juste après la naissance. La recherche doit arriver à intégrer plu

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Balcerzyk-Matić, Anna, Tomasz Iwanicki, Alicja Jarosz, et al. "Analysis of the DYNC1H1 Gene Polymorphic Variants’ Association with ASD Occurrence and Clinical Phenotype of Affected Children." Genes 16, no. 5 (2025): 510. https://doi.org/10.3390/genes16050510.

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Objectives: To analyze potential associations between three polymorphisms (rs3818188, rs941793, rs2403015) of the DYNC1H1 gene and the occurrence of autism spectrum disorder as well as the clinical phenotype of affected individuals. Methods: This family-based study included 206 children diagnosed with ASD and 364 of their biological parents. To examine the potential association between three polymorphisms of the DYNC1H1 gene and ASD occurrence, a transmission disequilibrium test was performed. Additionally, associations between the studied polymorphisms and the clinical phenotype of affected i

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Cardoso, Jessica Vilarinho, Daniel Escorsim Machado, Renato Ferrari, Mayara Calixto da Silva, Plínio Tostes Berardo, and Jamila Alessandra Perini. "Polymorphisms in VEGF and KDR genes in the development of endometriosis: a systematic review." Revista Brasileira de Saúde Materno Infantil 16, no. 3 (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, on

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Rył, Aleksandra, Natalia Tomska, Anna Jakubowska, Alicja Ogrodniczak, Joanna Palma, and Iwona Rotter. "Genetic Aspects of Problematic and Risky Internet Use in Young Men—Analysis of ANKK1, DRD2 and NTRK3 Gene Polymorphism." Genes 15, no. 2 (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 mechan

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M. khadhim, Manal, Ali T. AL-Damerchi, and Meraim A. Kazaal. "Evaluation of A Disintegrin and Metalloprotein33 Gene Polymorphism in Bronchial Asthma." AL-QADISIYAH MEDICAL JOURNAL 11, no. 19 (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

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Chalwe, Joseph Musonda, Christa Johanna Grobler, and Wilna Hendrika Oldewage-Theron. "Correlation of Eight (8) Polymorphisms and Their Genotypes with the Risk Factors of Cardiovascular Disease in a Black Elderly Population." Current Issues in Molecular Biology 46, no. 11 (2024): 12694–703. http://dx.doi.org/10.3390/cimb46110753.

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Single nucleotide polymorphisms (SNPs) have been associated with the development of cardiovascular diseases (CVDs). This study correlated eight SNPs with the risk factors of CVD in a black elderly population. Genotyping was used to detect eight polymorphisms; rs675 (ApoA-IV), rs699 (Angiotensinogen (AGT)), rs247616 and rs1968905 (Cholesteryl ester transfer protein (CETP)), rs1801278 (Insulin receptor substrate 1 (IRS-1)), rs1805087 (Methylenetetrahydrofolate reductase (MTHFR)) and rs28362286 and rs67608943 (Proprotein convertase subtilisin/kexin type 9 (PCSK9)), as well as their genotypes in d

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Guo, Lei, Yanan Liu, Lijun Liu, et al. "The CYP19A1 (TTTA)n Repeat Polymorphism May Affect the Prostate Cancer Risk: Evidence from a Meta-Analysis." American Journal of Men's Health 15, no. 3 (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

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Maliza, Rita, Lalu Muhammad Irham, Jaka Pradika, et al. "Genetic polymorphism and the risk of diabetic foot: a bibliometric analysis from 2011-2021." International Journal of Public Health Science (IJPHS) 12, no. 4 (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 clas

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Wang, Tzu-Yun, Sheng-Yu Lee, Yi-Lun Chung, et al. "TPH1 and 5-HTTLPR Genes Specifically Interact in Opiate Dependence but Not in Alcohol Dependence." European Addiction Research 22, no. 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 p

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Balko, Iva, Stefan Balko, Miroslav Petr, Josef Heidler, Lucie Benesova, and 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, no. 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 p

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Vdovychenko, Yu P., N. O. Firsova, and K. H. Khazhylenko. "Polymorphisms of hemostasis system genes in women with habitual miscarriage." HEALTH OF WOMAN, no. 8(144) (October 31, 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

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Sitek, Aneta, Iwona Rosset, Dominik Strapagiel, Małgorzata Majewska, Lidia Ostrowska-Nawarycz, and Elżbieta Żądzińska. "Association of FTO gene with obesity in Polish schoolchildren." Anthropological Review 77, no. 1 (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 fir

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Kalyoncu, Tuğba, Burcu Özbaran, Sezen Köse, and Hüseyin Onay. "Variation in the Oxytocin Receptor Gene Is Associated With Social Cognition and ADHD." Journal of Attention Disorders 23, no. 7 (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 soci

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Poulin, Michael J., E. Alison Holman, and Anneke Buffone. "The Neurogenetics of Nice." Psychological Science 23, no. 5 (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. Specif

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Bezerra, Diego de Aragão Bezerra De Aragão, José Juvenal Linhares, Emmanuelle Coelho Noronha, et al. "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, no. 2 (2020): 305. http://dx.doi.org/10.9771/cmbio.v19i2.34890.

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<p><strong>Introduction</strong>: breast cancer (BC) is the most common tumor and the leading cause of cancer-related death among the female population<br />worldwide. Polymorphisms genetics of ABCB1 gene contributed to breast cancer susceptibility and interindividual differences in<br />chemotherapy response. <strong>Objectives</strong>: to evaluate the association between the ABCB1 C3435T gene polymorphism (SNPs) with the<br />response to neoadjuvant chemotherapy in women with breast cancer. <strong>Methodology</strong>: this study

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Camperio Ciani, Andrea S., Shany Edelman, and 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, no. 6 (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

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Mikhailova, V., M. Alfimova, T. Lezheiko, M. Gabaeva, V. Plakunova, and V. Golimbet. "The impact of the oxytocin receptor gene (OXTR) on facial affect recognition in psychosis." European Psychiatry 65, S1 (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 r

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Huseyin, Oguzhan San, Tarlacı Sultan, Ulucan Korkut, Polat Tolga, Ozge Yilmaz Ozlem, and Tacal Aslan Beste. "Investigation of the Relationship between Anxiety Disorder and Time Perception with DRD2 rs1800497 Polymorphism." Journal of NeuroPhilosophy 1, no. 2 (2022): 171–80. https://doi.org/10.5281/zenodo.7253914.

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We have many biological systems that regulate the perception of time, which is one of our most essential abilities that allows subjectively predicting, perceiving and understanding the duration of experiences, feelings and achievements. There are findings obtained from many studies aiming to illuminate the place and importance of time, which was the most critical reference point for human understanding of life in the past, for us mammals. According to these findings, it is observed that there is a similar mechanism that provides the perception of time in almost every living organism. Time perc

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EVANS, J., B. REEVES, H. PLATT, et al. "Impulsiveness, serotonin genes and repetition of deliberate self-harm (DSH)." Psychological Medicine 30, no. 6 (2000): 1327–34. http://dx.doi.org/10.1017/s0033291799002822.

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Background. Few studies have investigated independent associations of psychological, biological and social variables with repeated deliberate self-harm (DSH). Serotonin function has been linked to impulsive and suicidal behaviour and genetic polymorphisms have been identified within the serotonin system that could account for this link. This study tested hypotheses linking impulsiveness, genetic polymorphisms of tryptophan hydroxylase (TPH) and the 5-HT2c receptor and repeated DSH.Methods. Individuals presenting after DSH were interviewed, completed personality questionnaires and gave venous b

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Procyshyn, Tanya L., Jason Spence, Silven Read, Neil V. Watson, and Bernard J. Crespi. "The Williams syndrome prosociality gene GTF2I mediates oxytocin reactivity and social anxiety in a healthy population." Biology Letters 13, no. 4 (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

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Smearman, Erica L., D. Anne Winiarski, Patricia A. Brennan, Jake Najman, and Katrina C. Johnson. "Social stress and the oxytocin receptor gene interact to predict antisocial behavior in an at-risk cohort." Development and Psychopathology 27, no. 1 (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 sig

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Wilczyński, Krzysztof M., Aleksandra Stasik, Lena Cichoń, Aleksandra Auguściak-Duma, and 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, no. 4 (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 p

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Paderina, Diana Z., Anastasiia S. Boiko, Ivan V. Pozhidaev, et al. "The Gender-Specific Association of DRD2 Polymorphism with Metabolic Syndrome in Patients with Schizophrenia." Genes 13, no. 8 (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 rec

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Sohail, Anam, Adina Arshad, Tamjeed Tariq, Ayesha Bibi, Shaista Aslam, and Muhammad Irfan. "Role of MDR1 Gene Polymorphisms in Human Male Infertility: A Meta-Analysis." American Journal of Men's Health 17, no. 2 (2023): 155798832311666. http://dx.doi.org/10.1177/15579883231166645.

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The present meta-analysis is performed to determine the association of C1236T and C3435T polymorphisms in the MDR1 gene. Google Scholar, PubMed, and Science Direct were searched. A total of 47 studies were retrieved, of which only three case–control studies, consisting of 490 cases and 423 controls, met the selection criteria. Odds ratios (ORs) for MDR1 C1236T were as follows: Allelic model (T vs. C): OR = 1.06 [0.83, 1.35]; Additive model (TT vs. CC): OR = 0.91 [0.53, 1.56]; Dominant model (TT+CT vs. CC): OR = 0.83 [0.55, 1.24]; and Recessive model (TT vs. CT+CC): OR = 1.43 [0.95, 2.17]. Howe

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Kulikov, Evgeny, Sergey Mertsalov, and Vladimir Grigorenko. "Genetic status of patients with colorectal cancer." Problems in oncology 67, no. 3 (2021): 332–37. http://dx.doi.org/10.37469/0507-3758-2021-67-3-332-337.

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Colorectal cancer remains one of the most common tumors. In the structure of cancer mortality in Russia, tumors of this localization occupy the second place among persons of both sexes, giving way to the cancer of the trachea and bronchi in men, and breast cancer in women, respectively. Despite modern diagnostic methods and approaches to treatment, the problem of colorectal cancer remains acute due to increasing morbidity throughout the world, and recently there has been a downward trend in the average age of patients, which increases the social significance of the problem. According to the mo

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Kulikov, Alexey N., Sergey V. Churashov, Tatiana A. Kamilova, and Vladimir A. Reituzov. "Molecular genetic aspects of keratoconus pathogenesis." Ophthalmology journal 10, no. 2 (2017): 62–71. http://dx.doi.org/10.17816/ov10262-71.

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Keratoconus is a bilateral, progressive corneal disease affecting all ethnic groups around the world. It is one of the major ocular problems with significant social impacts as the disease affects young generation, and is the leading cause of corneal transplantation. Although keratoconus is associated with genetic and environmental factors, its precise etiology is not yet established. Results from complex segregation analysis and patterns of gene expression show that genetic abnormalities may play an essential role in the susceptibility to keratoconus. There is a strong association between the

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

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IntroductionAutism spectrum disorder is a heterogeneous group of disorders that affects virtually every population, regardless of their ethnic or socioeconomic origin. The pathogenesis of ASD is probably multifactorial, based on interactions between genetic and environmental factors. Their key elements are disorders in the field of social communication, establishing and maintaining relationships and the so-called stereotypical and repetitive patterns of interests and activities. However, of the above- mentioned symptoms, the most important are communication disorders, which are the basis for m

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Birjan, Zahra, Khalil Khashei Varnamkhasti, Sara Parhoudeh, Leila Naeimi, and Sirous Naeimi. "Crucial Role of Foxp3 Gene Expression and Mutation in Systemic Lupus Erythematosus, Inferred from Computational and Experimental Approaches." Diagnostics 13, no. 22 (2023): 3442. http://dx.doi.org/10.3390/diagnostics13223442.

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The impaired suppressive function of regulatory T cells is well-understood in systemic lupus erythematosus. This is likely due to changes in Foxp3 expression that are crucial for regulatory T-cell stability and function. There are a few reports on the correlation between the Foxp3 altered expression level and single-nucleotide polymorphisms within the Foxp3 locus. Moreover, some studies showed the importance of Foxp3 expression in the same diseases. Therefore, to explore the possible effects of single-nucleotide polymorphisms, here, we evaluated the association of IVS9+459/rs2280883 (T>C) a

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Erkal, Burcin, Aysel Kalayci Yigin, Sukru Palanduz, Selcuk Dasdemir, and 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, no. 6 (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 participate

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Kinnally, Erin L., Genesio M. Karere, Leslie A. Lyons, Sally P. Mendoza, William A. Mason, and John P. Capitanio. "Serotonin pathway gene–gene and gene–environment interactions influence behavioral stress response in infant rhesus macaques." Development and Psychopathology 22, no. 1 (2010): 35–44. http://dx.doi.org/10.1017/s0954579409990241.

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AbstractA subset of serotonin (5-HT) pathway polymorphisms has been shown to confer risk for psychological dysfunction, particularly in individuals who experience early adversity. Understanding the developmental processes underlying these Gene × Environment interactions will strengthen the search for risk factors for behavioral dysfunction. We investigated the combined influence of two serotonin pathway polymorphisms and species-atypical, and possibly adverse, rearing (nursery rearing [NR]) on two dimensions of behavioral stress response in infant rhesus macaques. We hypothesized that the expe

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Carver, Charles S., Sheri L. Johnson, and Youngmee Kim. "Mu opioid receptor polymorphism, early social adversity, and social traits." Social Neuroscience 11, no. 5 (2015): 515–24. http://dx.doi.org/10.1080/17470919.2015.1114965.

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

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Abstract (sommario):

Objective. We aimed to explore the association between polymorphisms ofIRS1(rs1801278),TCF7L2(rs7903146 and rs12255372),ADRB1(rs1801253),PPARG(rs1801282), andHHEX(rs5015480) genes with atherogenic risk (AI = Total cholesterol/HDL) in MetS, T2D, and healthy populations from the Mexican Social Security Institute.Methodology and Results. Four hundred thirty-five MetS, 517 T2D, and 547 healthy individuals were selected. The association between the SNPs and the atherogenic index was evaluated by multiple linear regression and multinomial logistic regression models. TheADRB1gene showed a statistical

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Balakrishnan, Christopher N., Charles Chapus, Michael S. Brewer, and David F. Clayton. "Brain transcriptome of the violet-eared waxbill Uraeginthus granatina and recent evolution in the songbird genome." Open Biology 3, no. 9 (2013): 130063. http://dx.doi.org/10.1098/rsob.130063.

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Abstract (sommario):

Songbirds are important models for the study of social behaviour and communication. To complement the recent genome sequencing of the domesticated zebra finch, we sequenced the brain transcriptome of a closely related songbird species, the violet-eared waxbill ( Uraeginthus granatina ) . Both the zebra finch and violet-eared waxbill are members of the family Estrildidae, but differ markedly in their social behaviour. Using Roche 454 RNA sequencing, we generated an assembly and annotation of 11 084 waxbill orthologues of 17 475 zebra finch genes (64%), with an average transcript length of 1555

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Kumkum, Mahadia, Lolo Wal Marzan, Shahin Akter, Soma Chowdhury Biswas, Mahmood Ahmed Chowdhury, and Mohammad Afzal Hossain. "Association of oxytocin receptor gene polymorphisms with autism spectrum disorder in Bengali of Bangladesh population." Asian Journal of Medical and Biological Research 6, no. 2 (2020): 176–86. http://dx.doi.org/10.3329/ajmbr.v6i2.48048.

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Abstract (sommario):

Autism spectrum disorder (ASD) is a group of sex-biased neurodevelopmental disorders characterized by core deficits in social interaction, communication and behaviors. Several lines of evidence indicate that oxytocin signaling through its receptor (OXTR), is vital in a wide range of social behaviors and role of OXTR polymorphism in ASD development has also been established in several populations. Therefore, an attempt was taken to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility in a part of Bangladeshi (BEB) population. We have investigate

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Ilješ, Anja Plemenitaš, Blanka Kores Plesničar, and Vita Dolžan. "Associations of NLRP3 and CARD8 gene polymorphisms with alcohol dependence and commonly related psychiatric disorders: a preliminary study." Archives of Industrial Hygiene and Toxicology 72, no. 3 (2021): 191–97. http://dx.doi.org/10.2478/aiht-2021-72-3432.

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Abstract We investigated two functional polymorphisms in NLRP3 inflammasome genes (NLRP3 rs35829419 and CARD8 rs2043211) and their association with alcohol dependence and related anxiety, depression, obsession-compulsion, or aggression in 88 hospitalised alcohol-dependent patients, 99 abstinent alcohol-dependent participants, and 94 controls, all male Caucasian. Alcohol dependence-related psychiatric disorders were assessed with the Zung Depression and Anxiety scale, Buss-Durkee Hostility Inventory, Alcohol Use Disorders Identification Test, Brief Social Phobia Scale, Obsessive Compulsive Drin

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Yim, Onn-Siong, Xing Zhang, Idan Shalev, et al. "Delay discounting, genetic sensitivity, and leukocyte telomere length." Proceedings of the National Academy of Sciences 113, no. 10 (2016): 2780–85. http://dx.doi.org/10.1073/pnas.1514351113.

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Abstract (sommario):

In a graying world, there is an increasing interest in correlates of aging, especially those found in early life. Leukocyte telomere length (LTL) is an emerging marker of aging at the cellular level, but little is known regarding its link with poor decision making that often entails being overly impatient. Here we investigate the relationship between LTL and the degree of impatience, which is measured in the laboratory using an incentivized delay discounting task. In a sample of 1,158 Han Chinese undergraduates, we observe that steeper delay discounting, indexing higher degree of impatience, i

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Hadi, Elham, Hashem Nayeri, Ali Mohammad Ahadi, and Ziba Rezvani Sichani. "Investigation of rs1746661 Polymorphism in FNDC5 Gene in Obese Patients." Disease and Diagnosis 13, no. 4 (2024): 157–63. https://doi.org/10.34172/ddj.1633.

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Abstract (sommario):

Background: Obesity is a multifactorial disorder that has considerably increased in developing countries in recent years. This disease results from an imbalance between energy intake and expenditure, influenced by various factors such as behavior, diet, environment, metabolic factors, and genetics. Different genetic aspects of obesity seek mutations in genes that are responsible for appetite control and metabolism. FNDC5 is a glycosylated membrane protein that is highly expressed in the heart, brain, and skeletal muscle tissues in mice. This protein is cleaved by an unknown protease at the cel

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Flores, Elvira Katherine Barriga, Marina Fanderuff, Katheleen Miranda dos Santos, et al. "Association between sleep quality and polymorphisms of the genes COMT, HTR2A and FKBP5 in individuals with and without dentofacial deformity." Brazilian Journal of Oral Sciences 23 (November 13, 2024): e243501. http://dx.doi.org/10.20396/bjos.v23i00.8673501.

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Abstract (sommario):

Sleep is a fundamental biological function, and any disturbances can lead to alterations in an individual’s physical, occupational, cognitive, and social functioning. Aim: This study aimed to evaluate the quality of sleep and its association with factors such as age, sex, facial profile, and genetic polymorphisms in individuals who underwent dental treatment. Methods: The study comprised a total of 227 individuals. The “Sleep Assessment Questionnaire” was utilized to evaluate sleep quality. For the genetic assessment, oral mucosa cells were collected and markers from the COMT (rs174675, rs1656

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Mubarak Mustafa Elkarsany, Nadia Madni Mohammed Ahmed, Abdelmohmoud Mokhtar Bashir, and Abdegadir Alamin Altoum. "Association of Methylenetetrahydrofolate Reductase (MTHFR) Gene C677T (rs1801133) polymorphism among Sudanese patients with chronic myelogenous leukemia." GSC Biological and Pharmaceutical Sciences 22, no. 3 (2023): 218–24. http://dx.doi.org/10.30574/gscbps.2023.22.3.0091.

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Abstract (sommario):

Background: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme regulating the intracellular folate metabolism which plays an important role in carcinogenesis through DNA methylation. Objectives: The current study aimed to determine the association between MTHFR C677T polymorphisms and the risks of chronic myeloid leukemia (CML). Material and methods: This are hospital based cross sectional case control study, a total of 170 Sudanese subjects were enrolled, and 75 patients with chronic myeloid leukemia and 75 age- and sex matched healthy volunteers as a control group. Genomic DNA was e

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

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Abstract (sommario):

IntroductionThe endogenous opiate system (EOS) has been linked to social attachment in classical animal experiments, to addictive disorders (AD) and, more recently, to specific traits of personality through research in genetic polymorphisms and neuroimaging techniques.ObjectivesTo expose the relation between social bonding and AD, via the latest neurobiological findings in the EOS. To propose a theoretical framework which may allow a clinical approach based upon respect and no stigmatization.MethodsLiterature review in MEDLINE database with the keywords “opioid”, “polymorphism”, “object attach

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Kachkovska, Vladyslava. "Analysis of the association of bronchial asthma clinical course with ER22/23EK and TTH111I polymorphic variants in the glucocorticoid receptor gene." Ukrainian Scientific Medical Youth Journal 142, no. 4 (2023): 19–27. http://dx.doi.org/10.32345/usmyj.4(142).2023.19-27.

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Abstract (sommario):

bronchial asthma (BA) is one of the important and urgent medical and social problems of our time due to the high incidence and prevalence, which keep increasing. This is a typical multifactorial disease determined by the influence of external factors and genetic predisposition. The combination of these numerous factors determines the phenotypic heterogeneity of bronchial asthma. Identification of asthma phenotypes was based mainly on clinical variables; however, further identification of clinical phenotypes revealed their genetic heterogeneity. Accordingly, the determination of genetic marker

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Kulminski, Alexander, Ethan Jain-Washburn, Ian Philipp, et al. "IMPACT OF COMBINATIONS OF THE APOE Ɛ4 ALLELE AND TOMM40-APOC1 VARIANTS ON SURVIVAL TO OLDER AGES AND ALZHEIMER’S RISK." Innovation in Aging 6, Supplement_1 (2022): 442. http://dx.doi.org/10.1093/geroni/igac059.1732.

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Abstract (sommario):

Abstract Multifactorial diseases, health-related traits, and lifespan are polygenic phenotypes with complex genetic architectures. Polygenicity implies that multiple variants can impact the risks of these phenotypes independently or jointly. Recently, we showed that carriers of minor alleles of rs429358 (APOE ɛ4 encoding polymorphism), rs2075650 (TOMM40), and rs12721046 (APOC1) polymorphisms have up to 4.4 times higher risk of Alzheimer’s disease (AD) than APOE ɛ4 carriers without the minor alleles of rs2075650 and rs12721046. Here, we examined the chances of living to older ages—85 years and

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TAM, Hamid. "Association of Methylene Tetrahydrofolate Reductase Gene A1298C (Rs1801131) Polymorphism with Myocardial Infarction among Sudanese Patients." Haematology International Journal 5, no. 2 (2021): 1–6. http://dx.doi.org/10.23880/hij-16000192.

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Abstract (sommario):

Background: Myocardial infarction (MI) is among the leading causes of mortality worldwide. Variations in folate metabolism including genetic polymorphisms in the key metabolic enzymes had showed influences in the MI process. Objectives: To determine whether the C1298A transition in the Methylene Tetrahydrofolate Reductase ( MTHFR ) gene is associated with increased risk for MI among Sudanese patients. Material and methods: This is a hospital based case control study in which a total of 140 Sudanese subjects were enrolled, 70 patients with myocardial infarction and 70 age- and sex matched healt

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Mubarak, Mustafa Elkarsany, Madni Mohammed Ahmed Nadia, Mokhtar Bashir Abdelmohmoud, and Alamin Altoum Abdegadir. "Association of Methylenetetrahydrofolate Reductase (MTHFR) Gene C677T (rs1801133) polymorphism among Sudanese patients with chronic myelogenous leukemia." GSC Biological and Pharmaceutical Sciences 22, no. 3 (2023): 218–24. https://doi.org/10.5281/zenodo.7920203.

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Abstract (sommario):

<strong>Background:</strong> Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme regulating the intracellular folate metabolism which plays an important role in carcinogenesis through DNA methylation. <strong>Objectives:</strong> The current study aimed to determine the association between MTHFR C677T polymorphisms and the risks of chronic myeloid leukemia (CML). <strong>Material and methods:</strong> This are hospital based cross sectional case control study, a total of 170 Sudanese subjects were enrolled, and 75 patients with chronic myeloid leukemia and 75 age- and se

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

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Abstract (sommario):

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

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Enter, D., L. S. Colzato, and K. Roelofs. "Dopamine transporter polymorphisms affect social approach-avoidance tendencies." Genes, Brain and Behavior 11, no. 6 (2012): 671–76. http://dx.doi.org/10.1111/j.1601-183x.2012.00791.x.

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BARGUM, K., H. HELANTERÄ, and L. SUNDSTRÖM. "Genetic population structure, queen supersedure and social polymorphism in a social Hymenoptera." Journal of Evolutionary Biology 20, no. 4 (2007): 1351–60. http://dx.doi.org/10.1111/j.1420-9101.2007.01345.x.

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Stefanic, Polonca, and Ines Mandic-Mulec. "Social Interactions and Distribution of Bacillus subtilis Pherotypes at Microscale." Journal of Bacteriology 191, no. 6 (2008): 1756–64. http://dx.doi.org/10.1128/jb.01290-08.

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Abstract (sommario):

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 t

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

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Abstract (sommario):

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 gr

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