Chen Hua, Ding Shifang, Zhou Mi, Wu Xiayin, Liu Xi, Wu Yun, Liu Dechao
Department of Cardiology, Southern Medical University, Guangzhou, Guangdong, China.
Department of Cardiology, Inner Mongolia People's Hospital, Huhehaote, Inner Mongolia, China.
BMC Cardiovasc Disord. 2018 Jan 8;18(1):2. doi: 10.1186/s12872-017-0735-7.
CAD (Coronary Artery Disease) is a complex disease that influenced by various environmental and genetic factors. Previous studies have found many single nucleotide polymorphisms (SNPs) associated with the risk of CAD occurrence. However, the results are inconsistent. In this study, we aim to investigate genetic etiology in Chinese Han population by analysis of 7 SNPs in lipid metabolism pathway that previously has been reported to be associated with CAD.
A total of 631 samples were used in this study, including 435 CAD cases and 196 normal healthy controls. SNP genotyping were conducted via multiplex PCR amplifying followed by NGS (next-generation sequencing).
Rs662799 in APOA5 (Apolipoprotein A5) gene was associated with CAD in Chinese Han population (Odds-ratio = 1.374, P-value = 0.03). No significant association was observed between the rest of SNPs and CAD. Stratified association analysis revealed rs5882 was associated with CAD in non-hypertension group (Odds-ratio = 1.593, P-value = 0.023). Rs1800588 was associated with CAD in smoking group (Odds-ratio = 1.603, P-value = 0.035).
The minor allele of rs662799 was the risk factor of CAD occurrences in Chinese Han population.
冠状动脉疾病（CAD）是一种受多种环境和遗传因素影响的复杂疾病。先前的研究发现了许多与CAD发生风险相关的单核苷酸多态性（SNP）。然而，结果并不一致。在本研究中，我们旨在通过分析脂质代谢途径中的7个SNP来研究中国汉族人群的遗传病因，这些SNP先前已被报道与CAD相关。
本研究共使用了631个样本，包括435例CAD患者和196例正常健康对照。通过多重PCR扩增后进行二代测序（NGS）进行SNP基因分型。
载脂蛋白A5（APOA5）基因中的Rs662799与中国汉族人群的CAD相关（比值比=1.374，P值=0.03）。其余SNP与CAD之间未观察到显著关联。分层关联分析显示，rs5882在非高血压组中与CAD相关（比值比=1.593，P值=0.023）。Rs1800588在吸烟组中与CAD相关（比值比=1.603，P值=0.035）。
Rs662799的次要等位基因是中国汉族人群CAD发生的危险因素。
