Rare Nonsynonymous Variants in Lipid Metabolism Related Genes in Coronary Artery Disease

Background: CAD (Coronary Artery Disease) is a complex disease that influenced by environment and genetic factors. In this study, we aim to investigate the relationship between rare nonsynonymous variants in lipid metabolism related genes and CAD in Chinese Han population. Methods: : A total of 252 samples were recruited in this study, including 120 CAD cases and 132 normal health controls. Rare variants were detected via NGS based targeted sequencing. Pathogenicity prediction were performed with SIFT and Polyphen-2. Results: : The present study identified 33 nonsynonymous rare variants including two novel variants located in ANGPTL4 (G47E) and SCARB1 (L233F) gene, respectively. Association analysis showed CAD patients carried more nonsynonymous variants in all mutation sets, but did not reach statistically significant. Conclusions: : Targeted sequencing was a powerful tool to uncover rare variants in coronary artery disease. Clinical relevance of rare variants in CAD etiology needs to be investigated in future larger sample sizes.