目的:探讨色氨酸羟化酶2(TPH2)基因rs11178997单核苷酸多态性与女性单相抑郁症及自杀行为的关系。方法:提取中国北方地区219例女性单相抑郁患者(病例组)和215名健康对照者(对照组)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,检测病例组及对照组基因型的多态分布,应用SPSS17.0软件进行统计分析。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);病例组携带的TPH2 rs11178997基因型A/A、G/G、A/G频率分别为73.52%(161/219)、7.30%(16/219)和19.18%(42/219),对照组分别为38.60%(83/215)、60.00%(129/215)、1.40%(3/215),两组比较差异有统计学意义(χ2=146.772,P=0.000);病例组TPH2 rs11178997等位基因A、G频率分别为83.10%(364/438)、16.89%(74/438),对照组分别为39.30%(169/430)、60.70%(261/430),两组比较差异有统计学意义(χ2=175.668,P=0.000);病例组内有自杀行为的个体携带TPH2 rs11178997基因型A/A、G/G、A/G的频率及等位基因A、G频率比较差异均无统计学意义(P〉0.05)。结论:TPH2基因rs11178997单核苷酸多态性与女性单相抑郁症有明显关联,可能与女性抑郁症自杀行为易感性无关。
Objective: To explore the correlation between tryptophan hydroxylase 2 (TPH2) rsl 1178997 single nucleotide poly- morphism and female unipolar depression and suicidal behavior. Methods: Genome DNA of 219 female unipolar depression patients (case group) and 215 healthy women ( control group) from China northern area were abstracted, TaqMan probe SNPgenotyping technique was used to detect genome DNA particles of TPH2 gene rsl 1178997 locus, the distribution of genotype polymorphism in case group and control group, SPSS 17. 0 software was used for statistical analysis. Results: The distributions of SNPs genotypes in case group and control group were conformity to Hardy - Weinberg law of equilibrium ( P 〉 0. 05 ) ; the frequencies of TPH2 rsl 1178997 A/A, G/G, A/G genotypes were 73.52% ( 161/219), 7.30% ( 16/219), 19. 18% (42/219) in case group and 38.60% (83/215), 60. 00% ( 129/215), 1.40% (3/215) in control group, there were statistically significant differences between the two groups (X2 = 146. 772, P = 0. 000) ; the frequencies of TPH2 rs11178997 A and G alleles were 83.10% (364/438), 16. 89% (74/438) in case group and 39. 30% ( 169/430), 60. 70% (261/430) in control group, there were statistically significant differences between the two groups (X2 = 175. 668, P = 0. 000) ; among the cases with suicidal behavior in case group, there was no statistically significant difference in frequencies of TPH2 rsl 1178997 A/A, G/G, A/G geno- types and A, G alleles (P 〉 0. 05 ) . Conclusion: rsl 1178997 single nucleotide polymorphism of TPH2 gene is significantly correlated with female unipolar depression, and it may be not related to susceptibility of suicidal behavior in women with depression.