摘要目的 探讨中国汉族人群中5-羟色胺转运体基因启动子区域多态(5-HTTLPR)功能性3等位基因L_A、L_G和S与强迫症(OCD)的关系.方法 采用聚合酶链反应-限制性片段长度多态技术测定138例OCD患者(OCD组)和199名健康人(对照组)的5-HTTLPR功能性3等位基因多态性.结果 OCD组5-HTTLPR功能性基因型及等位基因频率与对照组间的差异有统计学意义(χ~2=8.396,P＜0.05;χ~2=8.483,P＜0.01);L_A/L_A因型和L_A等位基因与OCD存在显著正关联[比值比分别为3.361(P＜0.05)和1.771(P＜0.01)].结论在中国汉族人群中5-HTTLPR功能性3等位基因可能与OCD存在遗传关联,L_A/L_A基因型和等位基因L_A可能是OCD的风险因子.

abstractsObjective To explore the association between functionally triallelic polymorphism,alleles L_A,L_G and S of serotonin transporter gene linked polymorphism(5-HTTLPR)and obsessivecompulsive disorder(OCD)in Chinese Han nationality.Methotis Altogether 138 OCD patients and 199 healthy controls were included in this study.The subjects were genotyped directly with polymerase chain reaction and restriction fragment length polymorphism techniques.Results There were significant difierences between patients and controls on genotype and allele frequencies of functionally polymorphism of 5-HTTPLR (X~2=8.396,P＜0.05;X~2=8.483,P＜0.01).The L_A/L_A genotype and allele L_A were positively associated with OCD(OR=3.361 and 1.771.P＜0.05).Conclusions The results suggest that the functionally polymorphism of 5-HTTLPR may be associated with OCD in Chinese Han nationality,and L_A/L_A genotype and LA allele may be the risk factors of OCD.