中文摘要：

目的：mTOR信号转导通路涉及突触可塑性,参与可卡因奖赏记忆的再巩固,多巴胺系统可通过mTOR通路促进长期记忆的巩固。本研究探讨酒依赖患者雷帕霉素靶蛋白（mTOR）基因遗传多态性,比较5个单核苷酸多态性（SNPs）在酒依赖与正常健康人群中的分布。方法：采用Sequenom Massarray？飞行时间质谱技术,对482例酒依赖患者与579例健康对照的mTOR基因rs2024627、rs12137958、rs7525957、rs718206和rs1057079 5个SNPs进行分型,比较等位基因、基因型与单倍型频率分布。结果：5个多态性位点的等位基因频率与基因型频率在两组间差异无统计学意义（P〉0.05）,5 SNPs之间存在连锁不平衡（D’=0.79,R2=0.21）,以受教育年限为协变量发现对照组单倍型C-G-T-A-A频率显著低于酒依赖组（Fisher’P〈0.001）。结论：尽管mTOR基因5SNPs与健康人群分布差异无显著性,但单倍型rs2024627C-rs12137958G-rs7525957T-rs718206A-rs1057079A可能是中国北方汉族男性酒依赖的易感因素。

英文摘要：

Obiective： Evidence linking mTOR signaling pathways to largely been investigated, which involves in reconsolidation of cocaine reward system might modulate long term memory formation via synaptic plasticity has memory. Dopaminergic regulation of roTOR. We aimed to investigate the association between mTOR genetic polymorphisms and alcohol dependence （AD） in northern Chinese Han males. Method ： Four hundred and eighty -two alcoholics who met DSM -IV diagnostic criteria and 579 non -AD normal controls were recruited in the same area. Five polymorphisms were genotyped in all subjects using Sequenom Massarray, including rs2024627, rs12137958, rs7525957, rs718206 and rs1057079. Results ：The distributions of five allelic and genotypic frequencies between cases and controls were no significant difference （ all P 〉 0.05 ）. Linkage disequilibrium computations were performed for the 4 haplotypes with observed frequency I〉 3% （D＇ = 0.79 and R2 = 0.21 ）. The distributions of haplotypic frequencies of C - G - T - A - A in rs2024627, rs12137958, rs7525957, rs718206 and rs1057079 in AD group were significantly higher than those in controls, when education years were set as covariate （ Fisher＇ s P 〈 0. 001 ）. Conclusion： Five mTOR genetic polymorphisms might have no association with alcohol dependence, but the haplotype rs2024627C -rs12137958G- rs7525957T- rs718206A -rs1057079A might play a role in the regulation of roTOR pathway to be susceptible factors for AD in northern Chinese Han males.