Bcl-2基因启动子多态性与重度抑郁症及其临床表型的关联分析

Analysis of association between polymorphism of Bcl-2 gene promoter and major depressive disorder and its clinical phenotypes

目的探讨中国汉族人群Bcl-2基因启动子rs2279115位点多态性与重度抑郁症(MDD)及其临床表型的遗传关联性。方法收集2006年1月—2012年12月在上海交通大学医学院附属精神卫生中心心境障碍科就诊的MDD患者701例(MDD组)和725名健康对照者(正常对照组)作为研究对象,使用17项汉密尔顿抑郁量表(HAMD-17)评定患者的临床表型;采集外周血样本,提取DNA,利用TaqMan荧光探针SNP基因分型技术对rs2279115位点进行分型。结果 MDD组与正常对照组间rs2279115位点基因型和等位基因频率分布的差异无统计学意义(P>0.05);rs2279115多态性基因型之间HAMD-17总分及抑郁情绪、全身症状因子分的差异有统计学意义(P<0.05),携带C/C基因型的MDD患者HAMD-17总分及抑郁情绪、全身症状因子分均显著高于携带C/A或A/A基因型的MDD患者。结论 Bcl-2基因启动子rs2279115位点可能与MDD临床症状群存在关联。

Objective To investigate the genetic association between the polymorphism of rs2279115 of Bcl-2 gene promoter and the major depressive disorder （MDD） and its clinical phenotypes among Chinese Han population. Methods TotaUy 701 MDD patients （the MDD group） who visited the Division of Mood Disorders of Shanghai Mental Health Center, ShanghaiJiao Tong University School of Medicine from January, 2006 to December, 2012 and 725 healthy control subjects （the control group） were chosen for the study. The clinical phenotypes of patients were determined by the 17 items of Hamilton Depression Rating Scale （HAMD）.The peripheral blood samples were coUected and the DNA was extracted. Rs2279115 was then genotyped by the TaqMan SNP genotyping assay. Results The differences of frequencies of genotypes and alleles of rs2279115 between the MDD group and control group were not statistically significant （P〉0.05）. The differences of scores of HAMD, depressive emotion, and general symptom among polymorphous genotypes of rs2279115 were statistically significant （P〈0.05）. The scores of HAMD, depressive emotion, and general symptom of MDD patients with C/C genotype were significantly higher than those of MDD patients with C/A or A/A genotype. Conclusion The rs2279115 of Bcl-2 gene promoter may be relevant to the clinical symptoms of MDD.