中国汉族人群5-羟色胺2C受体基因rs518147位点多态性与强迫症的关联性

目的:探讨中国汉族群体5-羟色胺2C受体基因(5-HTR2C)启动区相关单核苷酸多态(SNP)位点rs518147多态性的分布状况及其与强迫症之间的关系。方法:采用直接测序法分析中国汉族群体符合中国精神障碍分类与诊断标准第3版或国际疾病分类第10版强迫症诊断标准的患者308例(强迫症组:男123例,女185例)和410名健康对照(对照组:男175名,女235名)5-HTR2Crs518147位点半合子(男性)或基因型(女性)分布频率,并分析半合子(男性)或基因型(女性)分布频率与强迫症发病的遗传易感性的关系。结果:强迫症组中5-HTR2C启动区rs518147位点男性患者携带G半合子与女性患者携带G+(GG与GC)基因型的比率均显著高于对照组(男性:χ2=4.973,P=0.026;女性:χ2=5.243,P=0.022),G等位基因的频率明显高于对照组(χ2=4.611,P=0.032)。结论:中国汉族群体中5-HTR2C启动区rs518147位点多态性可能与强迫症遗传易感性相关。

An association analysis between 5-HTR2C rs518147 polymorphism and obsessive-compulsive disorder in a Chinese Han population

Objective:To investigate the association between obsessive-compulsive disorder(OCD) and rs518147 polymorphism in the promoter of the serotonin 2C receptor gene(5-HTR2C) in Chinese Han population.Method:Direct sequencing technique was used to analyse the frequencies of rs518147 polymorphism of 5-HTR2C hemizygote(male) and genotype(female) in 308 patients(OCD:123 male,185 female)diagnosed according to Chinese classification of mental disorders or international classification of diseases-10 criteria and 410 control(Control:175 male,235 female)and then a case-control association analysis was performed with SPSS13.0.Results:The study group were more likely to be G hemizygote(for male) and G+(GG and GC) genotype(for female) than the control group(male:χ2 =4.973,P=0.026;female:χ2=5.243,P=0.022).The study group were more likely to take G allele(χ2=4.611,P=0.032) than the control group.Conclusion:Our results indicated that the rs518147 polymorphisms 5-HTR2C may play a major role in the genetic predisposition to OCD in Chinese Han population.