Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, Guangxi Medical University.
Biosci Trends. 2018 Sep 19;12(4):403-411. doi: 10.5582/bst.2018.01146. Epub 2018 Aug 12.
The association between the mevalonate kinase gene (MVK) single nucleotide polymorphism (SNP) and serum lipid levels has been detected in several previous genome-wide association studies, but the results are inconsistent. In addition, it is still unclear whether the loci indentified exert the similar effect on the susceptibility of coronary heart disease (CHD) or ischemic stroke (IS). Therefore, the present study was undertaken to detect the association between the MVK rs2287218 SNP and serum lipid levels, the susceptibility of CHD and IS in a Southern Chinese Han population. The genotypes of the SNP in 1764 unrelated subjects (CHD, 583; IS, 555; and healthy controls, 626) were determined by the Snapshot technology. The genotypic and allelic frequencies were different between CHD and control subjects (P ≤ 0.013 for each), or between IS and control groups (P < 0.01 for each). The T allele carriers had an increased risk of CHD and IS (CHD: OR = 1.674, 95%CI = 1.25-2.25, P = 0.001 for CT/TT vs. CC genotypes; OR = 1.595, 95%CI = 1.23-2.07, P < 0.001 for T vs. C alleles; IS: OR = 1.890, 95%CI = 1.36-2.47, P = 0.001 for CT/TT vs. CC genotypes; OR = 1.829, 95%CI = 1.38-2.42, P < 0.001 for T vs. C alleles). The T allele carriers in healthy controls had lower serum high-density lipoprotein cholesterol (HDL-C) levels than the T allele non-carriers (P = 0.013). These findings suggest that the MVK rs2287218 SNP is likely to increase the risk of CHD and IS by decreasing serum HDL-C levels in our study populations.
在之前的几项全基因组关联研究中，已经检测到甲羟戊酸激酶基因 (MVK) 单核苷酸多态性 (SNP) 与血清脂质水平之间存在关联，但结果不一致。此外，尚不清楚所鉴定的基因座是否对冠心病 (CHD) 或缺血性脑卒中 (IS) 的易感性具有相似的影响。因此，本研究旨在检测 MVK rs2287218 SNP 与血清脂质水平、CHD 和 IS 易感性之间的关联，在一个中国南方汉族人群中。通过 Snapshot 技术确定了 1764 名无关个体 (CHD，583; IS，555; 和健康对照组，626) 中 SNP 的基因型。CHD 组与对照组之间 (每个 P ≤ 0.013) 或 IS 组与对照组之间 (每个 P < 0.01) 的基因型和等位基因频率存在差异。T 等位基因携带者患 CHD 和 IS 的风险增加 (CHD: OR = 1.674，95%CI = 1.25-2.25，P = 0.001，CT/TT 与 CC 基因型相比;OR = 1.595，95%CI = 1.23-2.07，P < 0.001，T 与 C 等位基因相比;IS: OR = 1.890，95%CI = 1.36-2.47，P = 0.001，CT/TT 与 CC 基因型相比;OR = 1.829，95%CI = 1.38-2.42，P < 0.001，T 与 C 等位基因相比)。健康对照组中的 T 等位基因携带者的血清高密度脂蛋白胆固醇 (HDL-C) 水平低于 T 等位基因非携带者 (P = 0.013)。这些发现表明，在我们的研究人群中，MVK rs2287218 SNP 可能通过降低血清 HDL-C 水平来增加 CHD 和 IS 的风险。
