Zheng Peng-Fei, Yin Rui-Xing, Cao Xiao-Li, Chen Wu-Xian, Wu Jin-Zhen, Huang Feng
Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning, China.
Department of Neurology, The First Affiliated Hospital, Guangxi Medical University, Nanning, China.
Front Cardiovasc Med. 2021 Aug 12;8:713068. doi: 10.3389/fcvm.2021.713068. eCollection 2021.
The current study aimed to investigate the effects of synaptotagmin-like 3 () and solute carrier family 22 member 3 () single nucleotide polymorphisms (SNPs) and gene-environment (G × E) interactions on blood lipid levels as well as the risk of coronary artery disease (CAD) and ischaemic stroke (IS) in the Southern Chinese Han population. The genetic makeup of 6 SNPs in 2269 unrelated participants (controls, 755; CAD, 758 and IS, 756) of Chinese Han ethnicity was detected by the next-generation sequencing techniques. The allele and genotype frequencies of the rs2129209 and rs539298 SNPs were significantly different between the case and control groups. The rs539298 SNP was correlated with total cholesterol (TC) levels in controls, the rs539298G allele carriers maintained lower TC levels than the rs539298G allele non-carriers. At the same time, the rs539298 SNP interacted with alcohol consumption reduced the risk of CAD and IS. The - A-C-A-A-A-A, G-T-C-G-C-A and A-T-A-A-C-A haplotypes increased and the A-C-A-A-C-G haplotype reduced the risk of CAD, whereas the - A-C-A-A-A-A, G-T-C-G-A-G and A-T-A-A-C-A haplotypes increased and the A-C-A-A-A-G and A-C-A-A-C-G haplotypes reduced the risk of IS. In addition, several SNPs interacted with alcohol consumption, body mass index ≥ 24 kg/m and cigarette smoking to affect serum lipid parameters such as triglyceride, high-density lipoprotein cholesterol, TC, and apolipoprotein A1 levels. Several - variants, especially the rs539298 SNP, several haplotypes, and G × E interactions, were related to blood lipid parameters and the risk of CAD and IS in the Southern Chinese Han population.
本研究旨在探讨中国南方汉族人群中类似突触结合蛋白3（）和溶质载体家族22成员3（）单核苷酸多态性（SNP）以及基因-环境（G×E）相互作用对血脂水平、冠状动脉疾病（CAD）风险和缺血性中风（IS）的影响。采用下一代测序技术检测了2269名无亲缘关系的中国汉族参与者（对照组755人、CAD患者758人、IS患者756人）中6个SNP的基因组成。病例组和对照组之间rs2129209和rs539298 SNP的等位基因和基因型频率存在显著差异。rs539298 SNP与对照组的总胆固醇（TC）水平相关，rs539298G等位基因携带者的TC水平低于非携带者。同时，rs539298 SNP与饮酒相互作用可降低CAD和IS的风险。-A-C-A-A-A-A、G-T-C-G-C-A和A-T-A-A-C-A单倍型增加了CAD风险，而A-C-A-A-C-G单倍型降低了CAD风险；-A-C-A-A-A-A、G-T-C-G-A-G和A-T-A-A-C-A单倍型增加了IS风险，而A-C-A-A-A-G和A-C-A-A-C-G单倍型降低了IS风险。此外，几个SNP与饮酒、体重指数≥24 kg/m²和吸烟相互作用，影响血清脂质参数，如甘油三酯、高密度脂蛋白胆固醇、TC和载脂蛋白A1水平。几个-变体，尤其是rs539298 SNP、几个单倍型以及G×E相互作用，与中国南方汉族人群的血脂参数以及CAD和IS风险相关。
