摘要目的 探讨色氨酸羟化酶2(TPH2)基因rs11178997单核苷酸多态性与单相抑郁症及自杀行为的关系.方法 提取中国北方地区汉族300例单相抑郁患者和300例健康对照者基因组DNA,采用TaqMan探针SNP基因分型技术测定包含TPH2基因rs11178997位点的基因组DNA片段,来检测病例组及对照组的基因型的多态分布.应用SPSS 17.0分析基因多态性与单相抑郁症及自杀行为的关联性.结果 病例组与对照组SNPs基因型分布符合Hardy-Weinberg平衡定律(P＞0.05);单相抑郁患者TPH2rs11178997基因型A/A、G/G、A/G的频率分别为75.7％ (227/300)、6.0％ (18/300)、18.3％(55/300),而健康对照者的频率分别为39.7％(119/300)、56.3％(169/300)、1.3％(4/300),单相抑郁患者和健康对照者TPH2 rs11178997基因型和等位基因频率的差别有统计学意义(P＜0.05),且病例组中携带rs11178997位点AA基因型的个体数高于正常对照组;病例组内有、无自杀行为的个体携带基因型A/A、G/G、A/G的频率及rs11178997位点等位基因T、G频率两组间差异比较无统计学意义(P＞0.05).结论 TPH2基因rs11178997单核苷酸多态性与单相抑郁症有明显关联.

abstractsObjective To explore the relationship between single nucleotide polymorphism analysis of a novel tryptophan hydroxylase isoform (TPH2) gene rs11178997 and depression,and suicidal behavior.Methods The specimens of peripheral blood were collected from Chinese Northern 300 depression and 300 controis.The amplification of TPH2 gene rs11178997 was executed by realtime-polymerase chain reaction (realtime-PCR),and analyzed by directed sequencing.And the association between the polymorphisms of TPH2 gene and depression and suicidal behavior was analyzed with SPSS 17.0.Results The genotypic frequencies of the SNPs did not deviate from Hardy-Weinberg equilibrium both in patient and control groups (P ＞ 0.05 ).Compared with control group,significant difference of genotypes and alleles of TPH2 gene rs1 1178997 single nucleotide polymorphism had been found in patient group (75.7％ vs 39.7％,6.0％ vs 1.3％,18.3％ vs 1.3％ ; P＜ 0.05 for all),and the AA genotype frequency of rsl 1178997 was significantly higher in patients.Meanwhile there were not significant differences between genotypes of TPH2 gene rs11178997 and suicide behavior in patient group.Suicidal behavior of depression patients in allele genotypes was higher than nonsuicide behavior of depression patients (P ＞0.05).Conclusion TPH2 gene rs4570625 single nucleotide polymorphisms have association with the susceptibility of depression.