摘要目的 分析TPH2基因多态性与重度抑郁发作(major depressive disorder,MDD)治疗反应之间的相关性.方法 收集304例接受抗抑郁药治疗的MDD患者.用MassArray质谱分析法对TPH2基因的3个单核苷酸多态性(rs1007023、rs1023990和rs4570625)进行基因分型.用HAMD-17量表评估基线和治疗1、2、4和6周后的效果.结果 共290名受试者完成了研究,其中rs4570625基因多态性与抗抑郁治疗的效果存在显著的相关性,有效组和无效组的基因型、等位基因分布频率差异具有统计学意义(P=0.013,P=0.007),经错误发现率校正后,上述差异仍具有统计学意义(P=0.039,P=0.021),治疗有效的患者中等位基因G和GG基因型的频率更高(OR=1.70,95％CI=1.15～2.51;OR=3.34,95％CI=1.40～7.98).未发现rs1007023和rs1023990基因多态性和抗抑郁药疗效存在相关性(P＞0.05).结论TPH2基因rs4570625多态性可能与抗抑郁药疗效存在一定的关联.

abstractsObjective To assess the association of TPH2 gene polymorphisms with the response or remission to selective serotonin reuptake inhibitors (SSRIs) drugs during treatment of major depressive disorder.Methods For 304 patients receiving SSRIs treatment for major depression disorder,3 single nucleotide polymorphisms (SNPs) (rs1007023,rs1023990 and rs4570625) in the TPH2 gene were genotyped by MALDI-TOF mass spectrometry using a MassArray Analyzer 4 system.HAMD-17 was adopted as the primary rating tool to evaluate the severity of depression on the baseline and at the end of 1st,2nd,4th and 6th week of treatment.Results The frequency of GG genotype/G allele for rs4570625 differed significantly with the frequency of TT and GT genotypes/T allele between responders and non-responders (P=0.013 and 0.007,respectively).Genotypic and allelic frequencies of the other polymorphisms did not differ significantly between the two groups (P＞0.05).No association of TPH2 gene polymorphism with remission was found with the 3 SNPs.Conclusion The polymorphisms of TPH2 gene may play an important role in response to antidepressant drug therapy.