MYH7基因多态性位点rs397516252及rs187073962与辽宁地区肥厚性心肌病的临床相关研究

Clinical Relevance of MYH7 Gene Polymorphisms rs397516252 and rs187073962 and Hypertrophic Cardiomyopathy in Liaoning

肥厚性心肌病(HCM)是一种病因不明的以心室壁不对称性肥厚的心肌疾病,肥厚性心肌病常累及室间隔,导致心室体积变小,心室舒张期顺应性下降。肥厚性心肌病是运动性猝死的常见原因。心脏β-肌球蛋白重链(MYH7)基因是HCM发病的重要致病基因。旨在研究MYH7基因多态性位点rs397516252和rs187073962在辽宁地区HCM人群中的作用。实验分HCM组87例及对照组160例,通过定点特异性扩增法验证HCM组及对照中存在的上述多态性位点。结果rs397516252基因型与等位基因频率具有组间统计学差异,而位点rs187073962基因型与等位基因频率组间无统计学差异。结论:基因多态性位点改变rs397516252可能为HCM致病单核苷酸多态性位点,位点rs187073962可能与辽宁地区中国汉族人群HCM发病无关。

Hypertrophic cardiomyopathy(HCM)is a myocardial disease with asymmetry of hypertrophy of the ventricular wall.Hypertrophic cardiomyopathy often involves ventricular septum,leading to a decrease in ventricular volume and a decrease in ventricular diastolic compliance.Hypertrophic cardiomyopathy is a common cause of sudden death from sports.The cardiac β-myosin heavy chain(MYH7)gene is an important causative gene in the pathogenesis of HCM.This article aims to investigate the role of the MYH7 gene polymorphisms rs397516252 and rs187073962 in the HCM population in Liaoning.The experiment was divided into 87 cases of HCM group and 160 cases of control group.The above polymorphic sites in HCM group and control were verified by site-specific amplification method.Results:There was a statistical difference between the genotype and allele frequency of rs397516252,and there was no statistical difference between the genotype of rs187073962 and the allele frequency.Conclusion:The genetic polymorphism site change rs397516252 may be a HCM pathogenic single nucleotide polymorphism site,and the locus rs187073962 may be unrelated to the incidence of HCM in Chinese Han population in Liaoning.