中国汉族人群中5-羟色胺转运体相关多态区基因多态性与抑郁症的关联研究

摘要

Objective To explore the relationship between polymorphism of 5-hydroxytryptamine transporter linked polymorphic region (5-HTTLPR) and major depression in Chinese Han populmion.Methods The polymorphism of 5-HTTLPR in 123 depressive patients and 123 healthy controls of Han nationality were determined by polymerase chain reaction (PCR) technique.The cage-control association analysis was adopted to analyze the difference of genotypic and alleleic frequencies in depressive patients and controls.Results Four alleles (S,L,VL and XL) of 5-HTTLPR polymorphism were detected in the study, and the frequency of L allele was significantly higher in patients (28.O%) than in controls (18.0%)(P<0.05).There were no differences in the genotype distributions between patients (S/S,49.6%;L/L,12.2%;VL/VL,0.8%;S/L,29.3%;S/VL,5.7%;L/VL,2.4%;S/XL,0%) and controls(S/S,54.1%;L/L,4.1%;VL/VL,1.6%;S/L,23.8%;S/VL,9.8%;L/VL,4.1%;S/XL,2.5%).Conclusion 5-HTTLPR gene polymorphism L allele may be related to susceptibility of major depression in Chinese Han population.%目的 探讨中国汉族人群中5-羟色胺转运体(5-HTT)相关多态区(5-HTTLPR)基因多态性与抑郁症的关系.方法 采用聚合酶链反应(PCR)技术检测123例抑郁症患者和122名健康对照者(均为汉族)的5-HTT基因启动子区5-HTTLPR多态性的分布,病例对照关联分析法分析患者组和对照组间基因型频率和等位基因频率的差异.结果 共检测到四种等位基因形态S、L、VL和XL,患者组中5-HTTLPR多态性L等位基因频率(28.0%)明显高于对照组(18.0%),差异有显著性(P<0.05),患者组基因型频率(S/S,49.6%;L/L,12.2%;VL/VL,0.8%;S/L,29.3%;S/VL,5.7%;L/VL,2.4%;S/XL,0%)与对照组(S/S,54.1%;L/L,4.1%;VL/VL,1.6%;S/L,23.8%;S/VL,9.8%;L/VL,4.1%;S/XL,2.5%)比较.差异无显著性(P>0.05).结论 在中国汉族人群中,5-HTTLPR多态性L等位基因可能与抑郁症存在关联.