Plemenitas Anja, Kastelic Matej, Porcelli Stefano, Serretti Alessandro, Rus Makovec Maja, Kores Plesnicar Blanka, Dolžan Vita
Department of Psychiatry, University Clinical Center Maribor, Maribor, Slovenia.
Pharmacogenetics Laboratory, Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Alcohol Alcohol. 2015 Mar;50(2):140-5. doi: 10.1093/alcalc/agu088. Epub 2014 Dec 16.
The present study explored whether specific single-nucleotide polymorphisms in alcohol metabolic pathway are associated with alcohol dependence or alcohol-related psychopathological symptoms.
Three groups of male unrelated subjects were included: 101 currently alcohol-dependent patients, 100 formerly alcohol-dependent subjects and 97 healthy controls. The following questionnaires were implemented: AUDIT, Zung Depression and Anxiety scale, Brief Social Phobia Scale, Yale-Brown Obsessive Compulsive Scale, Obsessive Compulsive Drinking Scale and Buss-Durkee Hostility Inventory. All the subjects were genotyped for CYP2E1 c.-1053C>T and CAT c.-262C>T.
Statistically significant differences in the distribution of genotypes and alleles for CAT c.-262C>T polymorphism were observed among the three investigated groups. We observed a higher frequency of CAT -262T allele in alcohol-dependent subjects (OR = 1.74, 95% CI = 1.164-2.610). Among currently dependent patients CAT -262T allele carriers had higher AUDIT scores (P = 0.023), while CYP2E1-1053T allele carriers had significantly higher YBOCS-obsession subscale scores (P = 0.005) and Zung Anxiety Scale scores (P = 0.011).
Our findings suggest that the CAT c.-262C>T genetic polymorphism influences the susceptibility to alcohol dependence and severity of alcohol dependence, while CYP2E1 c.-1053C>T polymorphism influences the expression of obsessive-compulsive and anxiety symptoms.
本研究探讨酒精代谢途径中的特定单核苷酸多态性是否与酒精依赖或酒精相关的精神病理症状有关。
纳入三组无血缘关系的男性受试者：101名当前酒精依赖患者、100名既往酒精依赖受试者和97名健康对照。实施以下问卷：酒精使用障碍识别测试（AUDIT）、zung抑郁和焦虑量表、简短社交恐怖症量表、耶鲁-布朗强迫症量表、强迫性饮酒量表和布斯-杜克敌意量表。对所有受试者进行CYP2E1 c.-1053C>T和CAT c.-262C>T基因分型。
在三个研究组中观察到CAT c.-262C>T多态性的基因型和等位基因分布存在统计学显著差异。我们在酒精依赖受试者中观察到CAT -262T等位基因的频率较高（OR = 1.74，95%CI = 1.164 - 2.610）。在当前依赖患者中，CAT -262T等位基因携带者的AUDIT评分较高（P = 0.023），而CYP2E1 - 1053T等位基因携带者的YBOCS强迫观念分量表评分（P = 0.005）和zung焦虑量表评分（P = 0.011）显著更高。
我们的研究结果表明，CAT c.-262C>T基因多态性影响酒精依赖的易感性和酒精依赖的严重程度，而CYP2E1 c.-1053C>T多态性影响强迫和焦虑症状的表达。
