Department of Cardiology, Chinese People's Liberation Army General Hospital, and Peking Union Medical College, Beijing 100853, China.
Chin Med J (Engl). 2010 Jan 20;123(2):188-92.
Hypertrophic cardiomyopathy (HCM) is a primary autosomal dominant inheritant myocardial disease with heterogeneity in clinical manifestations, natural history and prognosis. Even carrying an identical gene mutation among family members, a variety of clinical phenotypes have been found in patients with HCM. Modifier genes may contribute to the diversity. The plasma levels of atrial natriuretic peptides (ANP) were found previously to be elevated in HCM. Our studies suggested that ANP gene promoter polymorphism is associated with left ventricular hypertrophy in hypertension. The present study aimed to determine whether the two SNPs in the ANP gene are associated with HCM.
We determined the relationships between the ANP gene polymorphism and HCM in 262 HCM patients and 614 age- and sex-matched healthy individuals. All of the subjects were genotyped for -A2843G and A188G polymorphisms.
The genotype frequency in the -A2843G and A188G polymorphisms of the ANP gene was not significantly different between the HCM patients and controls. The -A2843G and A188G polymorphisms were also not associated with clinical phenotype in cardiomyopathy patients.
The polymorphisms of the ANP gene are not associated with increasing risk of HCM or clinical phenotypes. The variations of the ANP gene may not serve as a genetic modifier for the development of HCM.
肥厚型心肌病（HCM）是一种主要的常染色体显性遗传心肌疾病，临床表现、自然病史和预后存在异质性。即使家族成员携带相同的基因突变，也会在 HCM 患者中发现各种临床表型。修饰基因可能导致这种多样性。先前发现，HCM 患者的血浆心房利钠肽（ANP）水平升高。我们的研究表明，ANP 基因启动子多态性与高血压中的左心室肥厚有关。本研究旨在确定 ANP 基因中的两个 SNP 是否与 HCM 相关。
我们在 262 名 HCM 患者和 614 名年龄和性别匹配的健康个体中确定了 ANP 基因多态性与 HCM 之间的关系。所有受试者均对 -A2843G 和 A188G 多态性进行基因分型。
ANP 基因的 -A2843G 和 A188G 多态性的基因型频率在 HCM 患者和对照组之间没有显著差异。-A2843G 和 A188G 多态性也与心肌病患者的临床表型无关。
ANP 基因的多态性与增加 HCM 或临床表型的风险无关。ANP 基因的变异可能不作为 HCM 发生的遗传修饰因子。
