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Family-based and case-control study of glutamate receptor GRIK3 Ser310Ala polymorphism in alcohol dependence.

机译:基于家族和病例对照的谷氨酸受体GRIK3 Ser310Ala多态性与酒精依赖关系的研究。

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The aim of this study was to evaluate the role of the glutamate receptor subunit-7 (GluR7, GRIK 3) rs6691840 (Ser310Ala, T928G) in the pathogenesis of alcohol dependence (AD).DNA was provided from AD patients (n = 209) and healthy control subjects (n = 308) all of Polish descent. The history of alcoholism was obtained using the Polish version of the SSAGA (Semi-Structured Assessment for the Genetics of Alcoholism). We conducted case-control association study and transmission disequilibrium test (TDT). GRIK3 functional polymorphism was genotyped by the PCR-RFLP method.Analyses revealed that polymorphism Ser310Ala of GRIK3 gene is not associated with AD or any of its subgroups. TDT reveled an adequate transmission of both alleles in the group of alcohol families.These findings replicate and extend our previous research results that do not support the hypothesis of the role of rs6691840 in the pathogenesis of AD.
机译:这项研究的目的是评估谷氨酸受体亚基7(GluR7,GRIK 3)rs6691840(Ser310Ala,T928G)在酒精依赖症(AD)发病机理中的作用.AD患者提供了DNA(n = 209)和健康对照组(n = 308)都属于波兰裔。酒精中毒的历史是使用波兰版的SSAGA(酒精中毒遗传学的半结构化评估)获得的。我们进行了病例对照关联研究和传播失衡测试(TDT)。通过PCR-RFLP方法对GRIK3的功能多态性进行基因分型。分析发现GRIK3基因的Ser310Ala多态性与AD或其任何亚群无关。 TDT揭示了酒精族中两个等位基因的充分传播。这些发现重复并扩展了我们先前的研究结果,这些研究结果不支持rs6691840在AD发病机理中的作用的假设。

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