摘要
目的探讨5一羟色胺转运体（5-HTT）基因的两个功能多态性位点（5-HTYLPR和STin2VNTR）与酒精使用障碍的关联性。方法对281例酒精障碍患者（AUDIT评分≥10）和277例健康对照（AUDIT评分≤5）的上述两个位点进行基因多态性检测，并对基因分型结果进行病例一对照关联性分析。结果该人群正常对照中5-HTTLPR的L等位基因频率为39．01％、STin2VNTR的10等位基因频率为8．42％，均符合亚洲人群的总体规律；单个位点关联性分析显示5-HTFLPR基因型和等位基因频率在病例组和对照组之间的差异均无统计学意义；STin2VNTR基因型和等位基因频率在两组问的差异经Bonferroni校正后均有统计学意义（P〈0．05），12等位基因为风险等位基因；单倍型分析显示两个位点构成的单倍型频率在病例组和对照组之间的差异无统计学意义。结论5-ITITLPR与该人群酒精使用障碍没有相关性，STin2VNTR的12等位基因可能是酒精使用障碍发生的风险因素。
Objective To investigate the possible associations of two polymorphisms （5-HTTLPR and STin2VNTR）of the serotonin transporter gene with alcohol use disorders （AUD）. Methods 281 AUD cases （AUDIT score ≥ 10） and 277 healthy controls （AUDIT score 45） were recruited in this study. All participants were genotyped using the PCR technique. Results The frequency of the L-allele of the 5-HT- TLPR was 39.01% ,and the 10-allele of STin2VNTR was 8.42% in this population,the allele frequencies of both polymorphisms were consistent with Asian normal populations. No significant association was observed between 5-HTTLPR and AUD, but the genotypic and allele frequencies of the STin2VNTR were significant different between two groups even after Bonferroni adjustment, the 12 repeat allele of the STin2VNTR was significantly associated with the risk effect for AUD. Haplotype analysis for those two polymorphisms revealed no association between 4 haplotype combinations and AUD. Conclusion There is no relationship between 5-HTI＇LPR and AUD.The STin2VNTR polymorphism of 5-HTT may play a role in the pathogenesis of AUD.
出处
《中华行为医学与脑科学杂志》
CAS
CSCD
北大核心
2017年第10期907-912,共6页
Chinese Journal of Behavioral Medicine and Brain Science
基金
国家自然科学基金项目（81571305）
