辽宁西北部地区汉族人群亚甲基四氢叶酸还原酶基因多态性与原发性高血压关联性研究

Association of polymorphisms in methylenetet rahydrofolate reductase(MTHFR) and essential hypertension in the northwestern Liaoning province

目的探索亚甲基四氢叶酸还原酶基因多态性与原发性高血压的关联性关系。方法2015年4月在辽宁省西北部高血压高发区汉族人群中收集原发性高血压患者和健康对照者共计1065人（原发性高血压患者547例，健康对照者518人）的流行病学资料和血样供检测，应用Sequenom基质辅助激光解吸电离飞行时间质谱的进行SNPs分型。应用非条件Logistic回归和分层分析进行统计学分析。结果MTHFR677c／T和MTHFR-1622A／G位点的等位基因型频率在高血压组和正常对照组两组间分布均没有显著性差异（x2=0738，P〉0．05；）（2=4．437，P〉0．05）；两个多态位点的等位基因频率在高血压组和正常对照组之间也无统计学显著性差异C=0．059，P〉005；x2=1．243，P〉0．05）。按照年龄和体重指数进行分层分析后，在40～年龄组和肥胖组中，MTHFR-1622A／G位点与高血压存在显著性关联（P〈0．05）。结论在辽宁省西部高血压高发区汉族人群中MTHFR677c／T和MTHFR-1622A／G位点可能不是高血压的易感基因。

Objective To investigate the relationship ofhomocysteine as well as methylenetet rahydrofolate reductase （MTHFR） polymorphisms and essential hypertension in the western region of Liaoning Province. Methods A population-based case-control study was carried out in 1,065 randomly-selected Chinese-Han subjects, was carried out in 76 hypertensive families （n=313）from northeastern Liaoning province. Allele detection was performed using matrix-assisted laser desorption/ionization-time-of-flight mass spectrometry. Results No significant differences were found in genotype or allele frequencies of MTHFR677C/T and MTHFR- 1622A/G （x2=0.059, P〉0.05; X2=1.243, P〉0.05）, with no excessive allele sharing. After the data were reanalyzed in a stratified manner according to age and BMI, the results suggested that AA genotype of MTHFR-1622A/G was risk predictor for hypertension in 40- age old group and in the obesity group. Conclusion Our results suggested that MTHFR gene would be no susceptiblility to hypertension in Chinese Han population at the western region of Liaoning Province.