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Polymorphism Alone (polymorphism + alone)
Selected AbstractsGENETIC STUDY: Tryptophan hydroxylase 2 gene and alcohol use among college studentsADDICTION BIOLOGY, Issue 3-4 2008Paul Gacek ABSTRACT Genes that regulate serotonin activity are regarded as promising predictors of heavy alcohol use. Tryptophan hydroxylase (TPH2) plays an important role in serotonergic neurotransmission by serving as the rate-limiting enzyme for serotonin biosynthesis in the midbrain and serotonergic neurons. Despite the link between TPH2 and serotonergic function, TPH2's role in the pathogenesis of alcohol-use disorders remains unclear. The goal of this study was to examine whether a variation in the TPH2 gene is associated with risky alcohol consumption. Specifically, this study examined whether the TPH2 G-703T polymorphism predicted alcohol consumption among college students. In two successive years, 351 undergraduates were asked to record their alcohol use each day for 30 days using an Internet-based electronic diary. Participants' DNA was collected and polymerase chain reaction genotyping was performed. Results show that alcohol consumption was not associated with the TPH2 G-703T polymorphism alone, or the interaction of TPH2 with two other candidate polymorphisms (TPH1 C218A and the SLC6A4 tri-allelic 5-HTTLPR), or negative life events. In conclusion, this study supports recent null findings relating TPH2 to drinking outcomes. It also extends these findings by showing null interactions with the TPH1 C218A polymorphism, the SLC6A4 tri-allelic 5-HTTLPR polymorphism and environmental stressors in predicting sub-clinical alcohol use among Caucasian American young adults. [source] The Relationship Between Serotonin Receptor 1B Polymorphisms A-161T and Alcohol DependenceALCOHOLISM, Issue 9 2009Sheng-Yu Lee Background:, Several studies have suggested that the serotonin receptor 1B gene (5HT1B) may be important in the pathogenesis of alcohol dependence (alcoholism; ALC; AD). We examined whether 5HT1B gene A-161T polymorphisms (rs130058) are a susceptibility factor for total AD and subgroups of AD. We further explored correlation of this 5HT1B gene variant between anxiety,depression alcoholism (ANX/DEP ALC) and antisocial alcoholism (antisocial ALC) subgroups because of the high comorbidity of anxiety,depression, antisocial personality disorder, and AD. Methods:, We recruited 522 Han Chinese in Taiwan for this study: 322 AD patients and 200 controls. The patient group was recruited primarily from medical teaching hospitals; patients with antisocial alcoholism were recruited from Taiwanese prisons. Individuals with AD were classified into 3 homogeneous clinical subgroups,pure alcoholism (pure ALC), ANX/DEP ALC, and antisocial ALC,using DSM-IV diagnosis. The 5HT1B gene A-161T polymorphism was determined using PCR,RFLP. Results:, No significant differences in genotypic and allelic frequencies were found between controls and the total AD group or between controls and the 3 AD subgroups. However, there were significant differences in the 5HT1B gene A-161T polymorphism at both the genotype and allelic levels between the ANX/DEP ALC and antisocial ALC subgroups. Conclusions:, This study suggests that the 5HT1B gene A-161T polymorphism alone is not a risk factor for increasing susceptibility to either AD or its subtypes. However, 5HT1B gene A-161T polymorphisms might be one of the common genetic factors between the ANX/DEP ALC and antisocial ALC subgroups. [source] The combinations of TNF,,308 and IL-6 ,174 or IL-10 ,1082 genes polymorphisms suggest an association with susceptibility to sporadic late-onset Alzheimer's diseaseACTA NEUROLOGICA SCANDINAVICA, Issue 6 2009P. Vural Objective,,, Single nucleotide polymorphisms in the regulatory regions of the cytokine genes for tumor necrosis factor , (TNF,), interleukin (IL)-6 and IL-10 have been suggested to influence the risk of Alzheimer's disease (AD) with conflicting results. Aim,,, To investigate the TNF,,308, IL-6 ,174 and IL-10 ,1082 gene polymorphisms as susceptibility factors for AD. Methods,,, We analyzed genotype and allele distributions of these polymorphisms in 101 sporadic AD patients and 138 healthy controls. Results,,, Heterozygotes (AG) or combined genotype (AG+AA) for IL-10 ,1082 were associated with approximately two-fold increase in the risk of AD. Carriers of A alleles of both TNF,,308 and IL-10 ,1082 had 6.5 times higher risk for AD in comparison with non-carriers. Concomitant presence of both mutant TNF,,308 A and IL-6 ,174 C alleles raised three-fold the AD risk, whereas there was no notable risk for AD afflicted by IL-6 ,174 polymorphism alone. Conclusion,,, Our results suggest that TNF, and IL-10 promoter polymorphism might be a risk factor for AD. The combined effects of TNF,,308, IL-6 ,174 and IL-10 ,1082 variant alleles may be more decisive to induce functional differences and modify the risk for AD. [source] PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case,control study in southeast ChinaEUROPEAN JOURNAL OF ORAL SCIENCES, Issue 2 2008Yongchu Pan Tooth agenesis is one of the most common developmental disorders in humans. The PAX9 gene, which plays an important role in odontogenesis, is associated with familial and sporadic tooth agenesis. A case,control study was performed in 102 subjects with tooth agenesis (cases) and 116 healthy controls. We genotyped four PAX9 gene polymorphisms using a polymerase chain reaction,restriction fragment length polymorphism (PCR-RFLP) assay. The allele and genotype frequencies of the four polymorphisms were not significantly different between the controls and the subjects with tooth agenesis. Similar results were observed in a subgroup analysis of test subjects only with mandibular incisor agenesis. Further analysis showed no significant difference in the haplotype distribution between the controls and the subjects with tooth agenesis or mandibular incisor agenesis. However, we found that the AGGC haplotype was associated with a decreased risk of tooth agenesis, compared with the most common haplotype, AGCC (odds ratio, 0.14; 95% confidence interval: 0.00,0.95). These results suggest that the four PAX9 polymorphisms alone have a non-significant main effect on the risk of tooth agenesis but that the AGGC haplotype may have a protective effect associated with a decreased risk of tooth agenesis. [source] | ||||||||||