TPH2基因单核苷酸多态性与单相抑郁症及其症状表型的关联研究  

ASSOCIATION BETWEEN SINGLE NUCLEOTIDE POLYMORPHISM OF A NOVEL TRYPTOPHAN HYDROXYLASE ISOFORM (TPH2) GENE RS7305115 AND UNIPOLAR DEPRESSION AND SYMPTOM PHENOTYPES

作　　者：张玉琦[1] 徐文炜[1] 袁国桢[1] 姚建军[1] 程灶火[1] 刘朝军 刘庆海 王爱荣 史桂芝[3] 王宝恒[3] 张长松[3] 成义仁 李克[3] 

机构地区：[1]南京医科大学附属无锡精神卫生中心,无锡214151 [2]山东省安康院 [3]汕头大学医学院分子遗传学教研室

出　　处：《现代预防医学》2011年第10期1904-1907,共4页Modern Preventive Medicine

基　　金：江苏省无锡市社会发展科技指导性计划项目(CLZ00721);广东省汕头市科技计划项目(汕府科[2004]102号)

摘　　要：[目的]探讨色氨酸羟化酶2(TPH2)基因rs7305115单核苷酸多态性与单相抑郁症及其症状表型的遗传关联性。[方法]提取197例单相抑郁症患者和225名健康对照者基因组DNA,采用聚合酶链反应(polymerase chain reaction PCR)扩增包括TPH2基因rs7305115位点的312bp基因组DNA片段及PCR产物直接测序。采用汉密顿抑郁量表(HAMD)评定病例组症状表型。[结果]在第7外显子周围未发现其他的单核苷酸多态性。单相抑郁患者和健康对照者TPH2rs7305115基因型和等位基因频率差异无统计学意义(P﹥0.05)。病例组中症状表型焦虑/躯体化、体重、日夜变化、迟缓、睡眠障碍在3种基因型间分布差异无统计学意义(P﹥0.05),而认知障碍和绝望感AA基因型与AG及GG基因型间差异均有统计学意义(P﹤0.01)。[结论]TPH2基因rs7305115单核苷酸多态性与单相抑郁无明显关联,与认知障碍和绝望感可能相关。[Objective]To explore the relation between single nucleotide polymorphism analysis of a novel tryptophan hydroxylase isoform（TPH2）gene rs7305115 and and symptom phenotypes in Han nationality of Chinese.[Methods]Specimens of peripheral blood were collected from Chinese 197 depression and 225 controls.Polymerase chain reaction（PCR）of a novel tryptophan hydroxylase isoform（TPH2）gene rs7305115 in length 312bp was analyzed by direct sequencing,and the symptom phenotypes of cases was evaluated by the Hamilton Rating Scale for Depression（HAMD）.[Results]We did not discover new single nucleotide polymorphism.Compared with Control Group,no significant difference of genotypes and alleles of TPH2 gene rs7305115 single nucleotide polymorphism had been found in patient group（P﹥0.05）.There was no significant difference of three genotypes distribution among symptom phenotypes in Anxiety/somatization,Weight,Diurnal variation,Retardation and Sleep disturbance of patient group.However there existed significant differences between genotypes of TPH2 gene rs7305115SNP and Cognitive disturbance,Hopelessnes in patient group（P﹤0.01）.[Conclusion]TPH2 gene rs7305115 single nucleotide polymorphism may have no association with the susceptibility of depression,but associated with Cognitive disturbance and Hopelessnes in depression.

关 键 词：单相抑郁症 TPH2基因 单核苷酸多态性 病例-对照研究 

分 类 号：R749.41[医药卫生—神经病学与精神病学]