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谷氨酸受体 GRIK3 Ser310Ala 多态性与酒精依赖的家系和病例对照研究。

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

机构信息

Department of Psychiatry, Pomeranian Medical University, Szczecin, Poland.

出版信息

Eur Addict Res. 2013;19(1):55-9. doi: 10.1159/000341714. Epub 2012 Sep 18.

Abstract

AIM

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).

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.

摘要

目的

本研究旨在评估谷氨酸受体亚基-7(GluR7,GRIK3)rs6691840(Ser310Ala,T928G)在酒精依赖(AD)发病机制中的作用。

方法

来自波兰裔的 AD 患者(n=209)和健康对照者(n=308)提供了 DNA。使用波兰版的 SSAGA(酒精遗传学的半结构化评估)获得了酒精中毒史。我们进行了病例对照关联研究和传递不平衡测试(TDT)。通过 PCR-RFLP 方法对 GRIK3 功能多态性进行基因分型。

结果

分析表明,GRIK3 基因的 Ser310Ala 多态性与 AD 或其任何亚组均无关。TDT 显示在酒精家族组中两个等位基因的传递是充分的。

结论

这些发现复制并扩展了我们之前的研究结果,即不支持 rs6691840 在 AD 发病机制中作用的假说。

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