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BMC Cardiovascular Disorders

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Open Access 01-12-2024 | Arterial Diseases | Research

Rare and common coding variants in lipid metabolism-related genes and their association with coronary artery disease

Authors: Wei Li, Yongyi Wang, Ritai Huang, Feng Lian, Genxing Xu, Weijun Wang, Song Xue

Published in: BMC Cardiovascular Disorders | Issue 1/2024

Abstract

Background

Coronary artery disease (CAD) is a complex disease that is influenced by environmental and genetic factors. In this study, we aimed to investigate the relationship between coding variants in lipid metabolism-related genes and CAD in a Chinese Han population.

Methods

A total of 252 individuals were recruited for this study, including 120 CAD patients and 132 healthy control individuals. Rare and common coding variants in 12 lipid metabolism-related genes (ANGPTL3, ANGPTL4, APOA1, APOA5, APOC1, APOC3, CETP, LDLR, LIPC, LPL, PCSK9 and SCARB1) were detected via next-generation sequencing (NGS)-based targeted sequencing. Associations between common variants and CAD were evaluated by Fisher’s exact test. A gene-based association test of rare variants was performed by the sequence kernel association test-optimal (SKAT-O test).

Results

We found 51 rare variants and 17 common variants in this study. One common missense variant, LIPC rs6083, was significantly associated with CAD after Bonferroni correction (OR = 0.47, 95% CI = 0.29–0.76, p = 1.9 × 10^− 3). Thirty-three nonsynonymous rare variants were identified, including two novel variants located in the ANGPTL4 (p.Gly47Glu) and SCARB1 (p.Leu233Phe) genes. We did not find a significant association between rare variants and CAD via gene-based analysis via the SKAT-O test.

Conclusions

Targeted sequencing is a powerful tool for identifying rare and common variants in CAD. The common missense variant LIPC rs6083 confers protection against CAD. The clinical relevance of rare variants in CAD aetiology needs to be investigated in larger sample sizes in the future.

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Title: Rare and common coding variants in lipid metabolism-related genes and their association with coronary artery disease
Authors: Wei Li
Yongyi Wang
Ritai Huang
Feng Lian
Genxing Xu
Weijun Wang
Song Xue
Publication date: 01-12-2024
Publisher: BioMed Central
Keyword: Arterial Diseases
Published in: BMC Cardiovascular Disorders / Issue 1/2024
Electronic ISSN: 1471-2261
DOI: https://doi.org/10.1186/s12872-024-03759-5

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Rare and common coding variants in lipid metabolism-related genes and their association with coronary artery disease

Abstract

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