摘要目的 探讨中国汉族人群5-羟色胺转运体基因 (5-HTT )rs9863857多态性与抑郁症及临床特征的相关性.方法 运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,对符合抑郁症诊断标准的82个先证者及其父母组成的核心家系,测定5-羟色胺转运体基因rs9863857分型,进行抑郁症的5-羟色胺转运体基因rs9863857多态性的关联性分析.根据抑郁症患者汉密尔顿抑郁量表评分,分析该多态性与抑郁症临床特征的相关性.结果 rs9863857等位基因与抑郁症相关联(χ2=4.63,P<0.05),其中等位基因A是保护因素(Z=-2.142),G为危险因素(Z=2.142).症状学分析显示抑郁情绪与5-HTT基因多态性有关,具有等位基因A及其纯合子的患者抑郁情绪得分显著较低,其中A/A、A/G、G/G基因型评分分别为(2.3±0.6)分、(2.9±0.7)分、(3.8±0.9)分(F=3.23,P<0.05).HAMD量表评分比较中,等位基因A抑郁情绪项目的得分[(2.8±0.7)分]明显较等位基因G低[(3.5±1.2)分,t=2.513,P<0.05].结论 5-HTT基因rs9863857与抑郁症相关联,A/A纯合子可能是抑郁症的保护因子.

abstractsObjective To detect the correlation about the polymorphism of serotonin transporter(5-HTT) gene rs9863857 with depression and its clinical features in the Han nationality in China.Methods Observed in a sample of 82 parent/offspring trios where the proband net the American Classification and diagnostic Criteria for Mental Disorders The Forth Revised Edition, criteria for depression using correlation analysis. The polymorphism of 5-HTT gene was detected with PCR methods and SNP typing in all nucleus families. According to HAMD score, the polymorphism of 5-HTT gene was explored the association between the polymorphism and clinical symptoms of depression. Results Rs9863857 allele was associated with depression (χ2= 4.63,P<0.05), which was the allele A protective factors (Z=-2.142), G as a risking factor (Z=2.142). The analysis of symptomatology factors showed that depressive symptoms was significantly associated with 5-HTT genotypes or alleles in that patients with A/A genotype and A allele had a significantly lower depressive scores compared to other genotypes or alleles(F=3.23,P<0.05).Conclusion 5-HTT gene rs9863857 may be associated with depression. A/A genotype and A allele may be the protective factors for depressive symptoms of depression.