Key result
Carriage of rare nonsynonymous variants in lipid metabolism-related genes was higher in CAD patients than controls (17.50% vs 11.36%, OR 1.65), but the association was not statistically significant.
Why the study?
CAD is a complex disease influenced by environmental and genetic factors, prompting an investigation into the relationship between rare nonsynonymous variants in lipid metabolism-related genes and CAD in the Chinese Han population.
Are rare nonsynonymous variants in lipid metabolism-related genes associated with an increased risk of CAD in a Chinese Han population?
Case-Control (n=252)
No
Are rare nonsynonymous variants in lipid metabolism-related genes associated with an increased risk of CAD in a Chinese Han population?
Answers are grounded in this paper and cite their sources.
Targeted sequencing identified novel rare nonsynonymous variants in lipid metabolism genes in CAD patients, though the association with CAD risk was not statistically significant in this small cohort.
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.
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Li et al. (2022) conducted a case-control in Coronary Artery Disease (n=252). Rare nonsynonymous variants in lipid metabolism related genes vs. Non-carriers / healthy controls was evaluated on Association of rare non-synonymous variants with risk of CAD (OR 1.65, p=0.16). Carriage of rare nonsynonymous variants in lipid metabolism-related genes was higher in CAD patients than controls (17.50% vs 11.36%, OR 1.65), but the association was not statistically significant.
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