Research progress of the correlation between genotype and phenotype in hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease characterized by left ventricular hypertrophy with prevalence of 1/500-1/200. Up to now, 1500 mutations in more than 30 genes have been found to be related to the disease. Pathogenic gene mutations together with polymorphisms of modifying genes and environmental factors play various roles in the disease processes, resulting in phenotypic heterogeneity of the disease, ranging from no symptoms to sudden cardiac death. The pathological phenotypes of HCM mainly include cardiomyocyte hypertrophy, disordered array, fibrosis, myocardial ischemia, and others. In recent years, many research efforts have been devoted to exploring the influence of HCM genotype on phenotype, and development of treatment methods based on genetics. This article focuses on the correction between HCM genotype and phenotype and summarizes the research progresses on HCM in terms of pathogenic genes, pathogenesis, associated modification factors and treatment methods, thereby providing insights on the future research and development on the genetics of HCM.

[The role of DNA hydroxymethylation in the regulation of atherosclerosis].

As an epigenetic modification, DNA hydroxymethylation plays a significant role in regulating gene expression. In recent years, there has been increasing evidence that suggests abnormal changes of 5-hydroxymethylcytosine (5hmC) and ten-eleven translocation (TET) family proteins in cardiovascular diseases, indicating cardiovascular diseases are closely connected with DNA hydroxymethylation. The level of DNA hydroxymethylation is affected by some common risk factors of atherosclerosis, such as aging, gender, hypertension and smoking. It is also related to the immune and inflammatory reaction involved in the process of atherosclerosis as well as the function of endothelial cells and vascular smooth muscle cells. In this review, we summarize the mechanism and research status of DNA hydroxymethylation and TET family proteins towards atherosclerosis, aiming to provide a reference for the development, diagnosis and treatment of atherosclerosis.