苯乙醇胺-N-甲基转移酶G-390A基因多态性与长沙地区汉族人群原发性高血压易感性的关联

目的：探讨苯乙醇胺-N-甲基转移酶（PNMT）G-390A基因多态性与长沙地区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400例原发性高血压患者和388例健康人群中对PNMT基因G-390A位点进行基因分型。结果：高血压病例组PNMT基因G-390A多态位点GG，GA和AA基因型频率分别为 39.3%，50.0%和10.8%，对照组G-390A多态位点GG,GA和AA基因型频率分别为43.6%，45.6%和10.8%；病例与对照组间基因型分布无统计学差异（P=0.433）；高血压病例组G-390A等位基因的频率为35.8%，对照组为33.6%，G-390A等位基因频率在高血压病例与对照组中分布也无统计学差异（P=0.378）；经Logistic回归分析显示，PNMT G-390A多态性与原发性高血压的发病风险无关；通过对性别进行分层分析，男性病例组与对照组之间PNMT G-390A的基因型分布具有统计学差异（P<0.05），病例组A等位基因频率显著高于对照组 (P=0.046)；女性病例和对照组间G-390A多态基因型和等位基因频率分布均无统计学差异（P>0.05）。结论：PNMT G-390A 的遗传多态性可能与长沙地区汉族人群男性原发性高血压的易感性相关。

Association of genetic polymorphism in phenylethanolamine-N-methyl transferase with essential hypertension in Changsha Han people

ObjectiveTo investigate the association of phenylethanolamine-N-methyl transferase (PNMT) G-390A genetic polymorphism with risk of essential hypertension (EH) in Changsha Han people. MethodsA case-control association study was performed in 400 patients with essential hypertension (EH) and 388 normotensive subjects. PNMT G-390A was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-FRLP). ResultsThe genotype frequencies for the -390 GG, GA, and AA were 39.3%,50.0%, and 10.8%, respectively in EH patients,  and were 43.6%,45.6%, and 10.8%,  in normal subjects. No significant difference in either genotypic frequency (P=0.433) or allele frequency (P=0.378) of PNMT G-390A between EH patients and normals was observed. When by gender, there was significant difference in genotypic frequency (P<0.05) and allele frequency (P=0.046) of G-390A polymorphism between EH patients and normals in the male, but not in the female (P>0.05).  ConclusionPNMT G-390A polymorphism is possibly associated with EH risk in male Chinese Han population in Changsha.