中国汉族人群5-羟色胺转运体基因启动子区多态性与精神分裂症的关联研究

Study on the correlation between the polymorphism in promoter region of 5-hydroxytryptamine transporter gene and schizophrenia in Chinese Han population

目的探讨中国汉族人群5-羟色胺转运体基因(SLC6A4)启动子区5-HTTLPR和rs25531(A>G)与精神分裂症之间的关系。方法应用聚合酶链反应以及限制性片段长度多态性(PCR-RFLP)技术对624例精神分裂症患者和683例健康对照志愿者进行基因分型。结果 5-HTTLPR基因分型的结果包括short(S)等位基因、long(L)等位基因,以及extra-long(XL)等位基因。病例组和对照组5-HTTLPR基因型分布差异有统计学意义,S/XL基因型是精神分裂症的危险因素(P=0.042,OR=1.79,95%CI 1.01～3.17);病例组和对照组5-HTTLPR-rs25531基因型分布差异有统计学意义,S/XLA和LG/XLA基因型是精神分裂症的危险因素(P=0.042,OR=1.79,95%CI 1.01～3.17;P=0.034,OR=3.69,95%CI 1.01～13.48)。结论 SLC6A4基因启动子区多态5-HTTLPR和rs25531(A>G)与中国汉族人群精神分裂症存在关联性。

Objective To explore the correlation between 5-HTTLPR and rs25531（A 〉G） in the promoter region of 5-hydroxytryptamine transporter gene （SLC6A4） and schizophrenia in Chinese Han population. Methods 624 patients with schizophrenia and 683 healthy controls were genotyped with polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP） technique. Results The genotypes of 5-HTTLPR included short （S）, long （L）, and extra-long （XL） alleles. The difference in distribution of 5-HTTLPR genotypes between the case group and the control group was statistically significant. S/XL genotype was a risk factor of schizophrenia （P=0. 042, OR =1.79, 95% CI 1.01 -3.17）. The difference in distribution of 5-HTTLPR-rs25531 genotypes between the case group and the control group was statistically significant. S/XLA and LG/XLA genotypes were risk factors of schizophrenia （ P =0. 042, OR = 1.79, 95% CI 1.01 - 3.17; P=0. 034, OR =3.69, 95% CI 1.01 -13.48）. Conclusion The polymorphism of 5-HTTLPR and rs25531 （A 〉G） in the promoter region of SLC6A4 gene is associated with schizophrenia in Chinese Han population.