Department of Cardiology, the 2nd Affiliated Hospital of Harbin Medical University, Harbin 150001, China; Key Laboratory of Myocardial Ischemia, Ministry of Education, Harbin Medical University, Harbin 150001, China.
Department of Cardiology, the 2nd Affiliated Hospital of Harbin Medical University, Harbin 150001, China.
Gene. 2018 Nov 15;676:22-28. doi: 10.1016/j.gene.2018.07.016. Epub 2018 Jul 10.
Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) that were associated with blood lipid levels in Europeans. However, little is known about such association in the Chinese populations. The present study was to determine the association of lipid levels susceptibility loci with the risk of China myocardial infarction (MI) patients.
A total of 401 patients with MI and 409 controls were included in the study. Five SNPs (including HNF1A rs1169286 and rs2244608, C12orf43 rs2258287, LIPA rs2246833 and TRPS1 rs2293889) were selected using a tagging single nucleotide polymorphism (tSNP) strategy. The SNP genotyping work was performed using an improved multiplex ligation detection reaction (iMLDR) technique.
The subjects with rs1169286 CT genotype in MI cases had lower FBG levels than the subjects with rs1169286 CC/TT genotypes (P = 0.002). The subjects with rs2246833 TT genotype in MI patients had higher LDL-C levels than the subjects with rs2246833 CC/CT genotypes (P = 0.006). Several SNPs interacted with sex and age to modify TC, TG, LDL-C, CRE and FBG levels, and the risk of MI (P < 0.01 for all). However, our results disclosed no association between the SNPs and susceptibility to MI (P > 0.05 for all).
Taken together, this study provides additional evidence that functional genetic variation of the lipid related mutations can mediate atherogenic processes and the risk of MI in humans.
最近的全基因组关联研究(GWAS)已经确定了几个与欧洲人血脂水平相关的单核苷酸多态性(SNP)。然而,关于中国人群的这种关联知之甚少。本研究旨在确定血脂水平易感位点与中国心肌梗死(MI)患者风险的关系。
本研究共纳入 401 例 MI 患者和 409 例对照。使用标记单核苷酸多态性(tSNP)策略选择了 5 个 SNP(包括 HNF1A rs1169286 和 rs2244608、C12orf43 rs2258287、LIPA rs2246833 和 TRPS1 rs2293889)。使用改良多重连接检测反应(iMLDR)技术进行 SNP 基因分型工作。
与 rs1169286 CC/TT 基因型相比,MI 病例中 rs1169286 CT 基因型的受试者空腹血糖(FBG)水平较低(P=0.002)。与 rs2246833 CC/CT 基因型相比,MI 患者 rs2246833 TT 基因型的 LDL-C 水平较高(P=0.006)。几个 SNP 与性别和年龄相互作用,改变 TC、TG、LDL-C、CRE 和 FBG 水平以及 MI 的风险(所有 P 值均<0.01)。然而,我们的结果并未显示 SNP 与 MI 易感性之间存在关联(所有 P 值均>0.05)。
综上所述,本研究提供了额外的证据,表明脂质相关突变的功能遗传变异可以介导动脉粥样硬化过程和人类 MI 的风险。