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与墨西哥裔美国人队列中酒精依赖相关的保护性变异体。

Protective variant associated with alcohol dependence in a Mexican American cohort.

作者信息

Norden-Krichmar Trina M, Gizer Ian R, Wilhelmsen Kirk C, Schork Nicholas J, Ehlers Cindy L

出版信息

BMC Med Genet. 2014 Dec 21;15:136. doi: 10.1186/s12881-014-0136-z.

Abstract

BACKGROUND

Mexican Americans, particularly those born in the United States, are at greater risk for alcohol associated morbidity and mortality. The present study sought to investigate whether specific genetic variants may be associated with alcohol use disorder phenotypes in a select population of Mexican American young adults.

METHODS

The study evaluated a cohort of 427 (age 18 - 30 years) Mexican American men (n = 171) and women (n = 256). Information on alcohol dependence was obtained through interview using the Semi-Structured Assessment for the Genetics of Alcoholism (SSAGA). For all subjects, DNA was extracted from blood samples, followed by genotyping using an Affymetrix Axiom Exome1A chip.

RESULTS

A protective variant (rs991316) located downstream from the ADH7 (alcohol dehydrogenase 7) gene showed suggestive significance in association with alcohol dependence symptom counts derived from DSM-III-R and DSM-IV criteria, as well as to clustered alcohol dependence symptoms. Additional linkage analysis suggested that nearby variants in linkage disequilibrium with rs991316 were not responsible for the observed association with the alcohol dependence phenotypes in this study.

CONCLUSIONS

ADH7 has been shown to have a protective role against alcohol dependence in previous studies involving other ethnicities, but has not been reported for Mexican Americans. These results suggest that variants near ADH7 may play a role in protection from alcohol dependence in this Mexican American cohort.

摘要

背景

墨西哥裔美国人,尤其是那些在美国出生的人,酒精相关发病和死亡风险更高。本研究旨在调查在特定的墨西哥裔美国年轻人群体中,特定基因变异是否可能与酒精使用障碍表型相关。

方法

该研究评估了一个由427名(年龄18 - 30岁)墨西哥裔美国男性(n = 171)和女性(n = 256)组成的队列。通过使用酒精中毒遗传学半结构化评估(SSAGA)进行访谈获取酒精依赖信息。对所有受试者,从血样中提取DNA,然后使用Affymetrix Axiom Exome1A芯片进行基因分型。

结果

位于ADH7(乙醇脱氢酶7)基因下游的一个保护性变异(rs991316),在与源自《精神疾病诊断与统计手册》第三版修订本(DSM-III-R)和第四版(DSM-IV)标准的酒精依赖症状计数以及聚类酒精依赖症状的关联中显示出提示性意义。额外的连锁分析表明,与rs991316处于连锁不平衡状态的附近变异并非本研究中观察到的与酒精依赖表型关联的原因。

结论

在先前涉及其他种族的研究中,ADH7已被证明对酒精依赖具有保护作用,但墨西哥裔美国人中尚未有相关报道。这些结果表明,ADH7附近的变异可能在该墨西哥裔美国人群体对酒精依赖的保护中发挥作用。

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