Genetic variants in Chinese patients with sporadic dilated cardiomyopathy: a cross-sectional study
Cheng Shen, Lei Xu, Xiaoning Sun, Aijun Sun, Junbo Ge
Abstract
Background: Multiple genes have been associated with familial dilated cardiomyopathy (DCM). However, the role of genetic factors in sporadic DCM (SDCM) remains unclear. Therefore, we studied the genetic variations in Chinese patients with SDCM. Methods: ) were sequenced using targeted next-generation sequencing method. All called nonsynonymous variants and their occurrence frequencies were compared against population data from public databases. And the nonsynonymous variants were also evaluated for pathogenicity by PolyPhen 2 (PP2) and Sorts Intolerant From Tolerant (SIFT) algorithms. Results: (8%), as verified by Poisson distribution analysis, which were considered "the five risky genes". Conclusions: We found that genetic variants with potential risk for DCM were commonly present in SDCM patients, indicating that genetic factors contribute to the pathogenesis, and (probably) the onset, of DCM in these patients.