儿茶酚-O-甲基转移酶基因Val 108/158 Met多态性与原发性高血压的相关性

目的：研究儿茶酚-O- 甲基转移酶(catechol-O-methyltransferase，COMT) 基因Val 108/158 Met 多态性与原发性高血压的相关性。方法：采用聚合酶链反应- 限制性片段长度多态性(polymerase chain reaction–restriction fragment length polymorphism，PCR-RFLP) 方法，检测原发性高血压患者( 高血压组，n=215) 及正常健康人群( 对照组，n=227)COMT 基因Val 108/158 Met 多态性的分布频率。结果：1)COMT 基因Val/Val，Val/Met 和Met/Met 三种基因型分布频率，以及Val 和Met 等位基因分布频率，在高血压组和对照组之间差异均无统计学意义( 均P>0.05)。2) 以性别分层后，3 种基因型男女分布频率以及Val 和Met 等位基因男女分布频率在高血压组和对照组之间差异均无统计学意义( 均P>0.05)。3) 对高血压患者进行危险分层后，危险分层不同的高血压患者各基因型频率差异均无统计学意义( 均P>0.05)。4)Logistic 回归分析显示体质量指数、血糖、低密度脂蛋白增高和高血压家族史是原发性高血压的危险因素，而基因型与高血压病的发生无关。结论：COMT 基因Val 108/158 Met 多态性可能与原发性高血压的遗传易感性无关。

Association of catechol-O-methyltransferase Val 108/158 Met polymorphism with essential hypertension

Objective: To explore the association of catechol-O-methyltransferase (COMT) Val 108/158 Metpolymorphism with essential hypertension in Chinese population.Methods: COMT Val 108/158 Met polymorphism was detected by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) in a case-control study, including 215hypertensive patients (hypertensive group, n=215) and 227 controls (control group, n=227).Results: 1)There was no significant difference in the frequency distribution of genotypic (Val/Val,Val/Met, and Met/Met) and the allelic of COMT gene Val 108/158 Met polymorphism betweenthe 2 groups (P>0.05). 2) After gender stratification, there was no significant difference in thegenotypic and allelic frequency distribution in men or women between the 2 groups (P>0.05). 3)After risk stratification of hypertension, there was no significant difference in the genotypic and allelicfrequency distribution between the low risk, middle risk, high risk and very high risk grades (P>0.05).4) Raised body mass index, blood glucose and low-density lipoprotein, and hypertension familyhistory were risk factors for hypertension by logistic regression analysis, while genotype had no effecton the occurrence of hypertension.Conclusion: No relationship between COMT Val 108/158 Met polymorphism and essentialhypertension has been found.