Caputo Fabio, Ciminelli Bianca Maria, Jodice Carla, Blasi Paola, Vignoli Teo, Cibin Mauro, Zoli Giorgio, Malaspina Patrizia
a Department of Internal Medicine , SS Annunziata Hospital, Cento , Ferrara , Italy.
b 'G. Fontana' Centre for the Study and Multidisciplinary Treatment of Alcohol Addiction, Department of Medical and Surgical Sciences , University of Bologna , Italy.
Ann Hum Biol. 2017 Jun;44(4):384-388. doi: 10.1080/03014460.2017.1287307. Epub 2017 Feb 14.
Alcohol use disorder (AUD) is a complex trait with genetic and environmental influences. Several gene variants have been associated with the risk for AUD, including genes encoding the sub-units of the γ-aminobutyric acid (GABA) receptors.
This study evaluated whether specific single nucleotide polymorphisms (SNPs) in genes encoding GABA receptor sub-units can be considered as candidates for the risk of AUD.
Seventy-four AUD subjects and 128 Italian controls were genotyped for 10 SNPs in genes encoding GABA-B1 and GABA-B2 sub-units (GABBR1 and GABBR2). Allele, genotype, and haplotype frequencies were tested for the association with the AUD trait.
A significant difference between AUD individuals and controls was observed at genotype level for rs2900512 of GABBR2 gene. The homozygous T/T genotype was not found in the controls, whereas it was over-represented in the AUD individuals. Under the recessive model (T/T vs C/T + C/C) this result was statistically significant, as well as the Odds Ratio for the association with the AUD trait.
The results provide preliminary data on the association between GABA receptor gene variation and risk of AUD. To confirm this finding, studies with larger samples and additional characterisation of the phenotypic AUD trait are required.
酒精使用障碍（AUD）是一种受遗传和环境影响的复杂性状。几种基因变异与AUD风险相关，包括编码γ-氨基丁酸（GABA）受体亚基的基因。
本研究评估编码GABA受体亚基的基因中的特定单核苷酸多态性（SNP）是否可被视为AUD风险的候选因素。
对74名AUD患者和128名意大利对照者进行基因分型，检测编码GABA-B1和GABA-B2亚基（GABBR1和GABBR2）的基因中的10个SNP。测试等位基因、基因型和单倍型频率与AUD性状的相关性。
在GABBR2基因的rs2900512基因型水平上，AUD患者和对照者之间观察到显著差异。对照组中未发现纯合T/T基因型，而在AUD患者中其比例过高。在隐性模型（T/T与C/T + C/C）下，该结果具有统计学意义，与AUD性状关联的优势比也具有统计学意义。
这些结果提供了关于GABA受体基因变异与AUD风险之间关联的初步数据。为了证实这一发现，需要进行更大样本量的研究以及对AUD表型特征进行进一步的表征。
