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在立陶宛队列中鉴定出与酒精使用障碍相关的新型人类基因组变异。

Novel human genome variants associated with alcohol use disorders identified in a Lithuanian cohort.

作者信息

Baronas Karolis, Rančelis Tautvydas, Pranculis Aidas, Domarkienė Ingrida, Ambrozaitytė Laima, Kučinskas Vaidutis

机构信息

Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.

出版信息

Acta Med Litu. 2018;25(1):7-13. doi: 10.6001/actamedica.v25i1.3698.

Abstract

BACKGROUND

Alcohol use disorder (AUD) is a chronic relapsing brain disease characterized by compulsive alcohol use, loss of control over alcohol intake, and a negative emotional state when not using (1). Abusive alcohol consumption directly affects a person's physical and psychological health and social life. The World Health Organization has shown that Lithuania is a leading country in pure alcohol consumption in the world (2). The aim of this study is to find novel genome variants that are associated with the AUD in the Lithuanian cohort.

MATERIALS AND METHODS

A case-control study included 294 individuals of Lithuanian ethnicity, who were divided into two groups based on their habits of alcohol use. Single nucleotide polymorphism array analysis was performed using Illumina HiScanSQ™ genome analyzer.

RESULTS

Our study showed that rs686141T>C variant in gene is more prevalent in the non-drinker group compared to the alcohol drinker group (relative allele frequency, respectively: 0.38 and 0.27, OR = 0.60 (CI 95% 0.37-0.98), = 0.0408). Meanwhile, rs6354C>A, in gene, variant's genotype distribution showed statistically significant difference between the non-drinker and alcohol drinker group (distribution of genotypes in the case group: 9/72/172 (CC/CA/AA) and in the control group: 5/7/29, = 0.0264).

CONCLUSION

We analyzed 23 genes associated with AUD and identified two novel genome variants (rs686141T>C and rs6354C>A). The study shows that genome analysis is an important tool for AUD research. The results supplement the known information about genes associated with AUD.

摘要

背景

酒精使用障碍(AUD)是一种慢性复发性脑部疾病,其特征为强迫性饮酒、对酒精摄入失去控制,以及在不饮酒时出现负面情绪状态(1)。过度饮酒直接影响人的身心健康和社会生活。世界卫生组织表明,立陶宛是全球纯酒精消费量领先的国家(2)。本研究的目的是在立陶宛队列中寻找与酒精使用障碍相关的新型基因组变异。

材料与方法

一项病例对照研究纳入了294名立陶宛族个体,根据他们的饮酒习惯分为两组。使用Illumina HiScanSQ™基因组分析仪进行单核苷酸多态性阵列分析。

结果

我们的研究表明,与饮酒者组相比, 基因中的rs686141T>C变异在不饮酒者组中更为普遍(相对等位基因频率分别为:0.38和0.27,OR = 0.60(95%CI 0.37 - 0.98), = 0.0408)。同时, 基因中的rs6354C>A变异的基因型分布在不饮酒者和饮酒者组之间显示出统计学上的显著差异(病例组的基因型分布:9/72/172(CC/CA/AA),对照组:5/7/29, = 0.0264)。

结论

我们分析了23个与酒精使用障碍相关的基因,并鉴定出两个新型基因组变异(rs686141T>C和rs6354C>A)。该研究表明基因组分析是酒精使用障碍研究的重要工具。这些结果补充了关于与酒精使用障碍相关基因的已知信息。

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