Wei Bi-Liu, Yin Rui-Xing, Liu Chun-Xiao, Deng Guo-Xiong, Guan Yao-Zong, Zheng Peng-Fei
Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning, China.
Guangxi Key Laboratory Base of Precision Medicine in Cardio-Cerebrovascular Disease Control and Prevention, Nanning, China.
Front Cardiovasc Med. 2021 Oct 14;8:720884. doi: 10.3389/fcvm.2021.720884. eCollection 2021.
The association between the and SNPs and essential hypertension (referred to as hypertension) is far from being consistent. In addition to the heterogeneity of hypertension resulting in inconsistent results, gene-gene and gene-environment interactions may play a major role in the pathogenesis of hypertension rather than a single gene or environmental factor. A case-control study consisting of 1,652 individuals (hypertension, 816; control, 836) was conducted in Maonan ethnic minority of China. Genotyping of the four SNPs was performed by the next-generation sequencing technology. The frequencies of minor alleles and genotypes of four SNPs were different between the two groups ( < 0.001). According to genetic dominance model analysis, three (rs1004467, rs11191548, and rs17249754) SNPs and two haplotypes ( rs1004467G-rs11191548C and rs1401982G-rs17249754A) were negatively correlated, whereas rs1401982 SNP and the other two haplotypes ( rs1004467A-rs11191548T and rs1401982A-rs17249754G) were positively associated with hypertension risk ( ≤ 0.002 for all). Two best significant two-locus models were screened out by GMDR software involving SNP-environment (rs11191548 and BMI ≥ 24 kg/m) and haplotype-environment ( rs1004467G-rs11191548C and BMI ≥ 24 kg/m) interactions ( ≤ 0.01). The subjects carrying some genotypes increased the hypertension risk. Our outcomes implied that the rs1004467, rs11191548, and rs17249754 SNPs and rs1004467G-rs11191548C and rs1401982G-rs17249754A haplotypes have protective effects, whereas the rs1401982 SNP and rs1004467A-rs11191548T and rs1401982A-rs17249754G haplotypes showed adverse effect on the prevalence of hypertension. Several SNP-environment interactions were also detected.
[某些基因]单核苷酸多态性（SNPs）与原发性高血压（以下简称高血压）之间的关联远未达成一致。除了高血压的异质性导致结果不一致外，基因-基因和基因-环境相互作用可能在高血压发病机制中起主要作用，而非单一基因或环境因素。在中国毛南族中开展了一项包含1652名个体（高血压患者816例，对照836例）的病例对照研究。通过下一代测序技术对4个SNPs进行基因分型。两组之间4个SNPs的次要等位基因频率和基因型不同（P<0.001）。根据遗传显性模型分析，3个（rs1004467、rs11191548和rs17249754）SNPs和2个单倍型（rs1004467G-rs11191548C和rs1401982G-rs17249754A）呈负相关，而rs1401982 SNP和其他两个单倍型（rs1004467A-rs11191548T和rs1401982A-rs17249754G）与高血压风险呈正相关（所有P≤0.002）。通过GMDR软件筛选出两个最佳显著两位点模型，涉及SNP-环境（rs11191548和体重指数≥24kg/m²）和单倍型-环境（rs1004467G-rs11191548C和体重指数≥24kg/m²）相互作用（P≤0.01）。携带某些基因型的受试者增加了高血压风险。我们的结果表明，rs1004467、rs11191548和rs17249754 SNPs以及rs1004467G-rs11191548C和rs1401982G-rs17249754A单倍型具有保护作用，而rs1401982 SNP以及rs1004467A-rs11191548T和rs1401982A-rs17249754G单倍型对高血压患病率显示出不利影响。还检测到了几种SNP-环境相互作用。
