酪氨酸羟化酶基因C-824T多态性与湖南汉族人群 原发性高血压易感性的关联研究

目的：通过病例-对照研究，探讨酪氨酸羟化酶（tyrosine hydroxylase, TH）基因C-824T多态性与中国湖南汉族人群原发性高血压遗传易感性的关系。方法：应用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)的分析方法，在368例原发性高血压患者和353例健康人群中对TH基因的C-824T进行基因分型。结果：(1)高血压病例组TH基因C-824T位点CC和CT+TT基因型频率分别为89.9%和10.1%，对照组CC和CT+TT基因型频率分别为88.7%和11.3%，2组间基因型的分布差异无统计学意义(P=0.579)；高血压病例组和对照组中C等位基因的频率分别为94.8%和94.1%，两者之间差异亦无统计学意义（P=0.515）。(2)经Logistic回归分析结果显示，TH基因C-824T多态性与高血压病的发病风险无关（P=0.264）。(3)通过对性别进行分层分析，男性及女性病例组与对照组间TH基因C-824T基因型分布均无统计学差异(P=0.841及P=0.288)。(4)对照组TH基因C-824T多态位点CT+TT基因型个体舒张压显著高于基因型为CC的个体（P=0.015）。(5)通过对性别进行分层分析，对照组男性CT+TT基因型个体舒张压显著高于基因型为CC的个体（P=0.018）；对照组女性CT+TT基因型与CC基因型个体的舒张压的差别没有统计学意义（P=0.083）。结论：TH基因C-824T的遗传多态性与湖南汉族人群原发性高血压的易感性无关；TH基因C-824T的遗传多态性与湖南汉族人群男性的舒张压水平有关。

Genetic polymorphism in tyrosine hydroxylase gene and essential hypertension in Hunan Han population

ObjectiveTo investigate the association of tyrosine hydroxylase (TH) C-824T polymorphism with essential hypertension (EH) susceptibility in Hunan Han population by a case-control study. MethodsA case-control study was performed on 368 EH patients and 353 healthy controls of Han nationality recruited in Hunan province. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)was used to genotype the C-824T polymorphism. Results(1) Genotype frequencies for TH-824CC and -824CT+-824TT genotypes were 89.9% and 10.1%, respectively for EH patients and 88.7% and 11.3%, respectively for the controls. No significant difference in the genotype distribution of C-824T polymorphism between the patients and controls was observed (P=0.579). Allele frequencies of TH C-824T also showed no significant difference between the patients and controls(P=0.515). (2)When adjusted by EH risk factors, results of unconditional logistic regression analysis showed that there was no association between TH C-824T polymorphism and EH susceptibility (P=0.264). (3) When stratified by gender, no significant difference in the genotype distribution of TH C-824T polymorphism was observed between the patients and controls in either male or female subjects (P=0.841 and P=0.288). (4) Diastolic blood pressure(DBP) in individuals with -824 CT+TT genotype was significantly higher than that in individuals with -824 CC genotype in the controls (P=0.015). (5) When stratified by gender, significant difference in DBP between TH C-824T CT+TT genotype and CC genotype was observed in the male (P= 0.018) but not in the female (P=0.083) controls. ConclusionThere is no association between TH gene C-824T polymorphism and EH susceptibility in Hunan Han population. The TH gene C-824T polymorphism is possibly associated with increased DBP in the males in Hunan Han population.