Epha6 rs4857055 C>T 多态性通过甘油三酯和 LDL 颗粒大小与韩国人群的高血压相关。
EPHA6 rs4857055 C > T polymorphism associates with hypertension through triglyceride and LDL particle size in the Korean population.
机构信息
Research Center for Silver Science, Institute of Symbiotic Life-TECH, Yonsei University, Seoul, 03722, Korea.
Department of Food and Nutrition, Brain Korea 21 PLUS Project, College of Human Ecology, Yonsei University, Seoul, 03722, Korea.
出版信息
Lipids Health Dis. 2017 Dec 6;16(1):230. doi: 10.1186/s12944-017-0620-5.
BACKGROUND
Erythropoietin-producing human hepatocellular (Eph) receptors might contribute to the development of atherosclerosis. A genome-wide association study indicated that the Eph receptor A6 gene (EPHA6) associated with at least 1 blood pressure (BP) phenotype. The objective of the present study was to determine whether EPHA6 is a novel candidate gene for hypertension in a Korean population.
METHODS
A total 2146 study participants with normotension and hypertension were included. Genotype data were obtained using a Korean Chip. To assess the association between single-nucleotide polymorphisms (SNPs) and BP, we performed a linear regression analysis, which showed that rs4850755 in the EPHA6 gene was the SNP most highly associated with both systolic and diastolic BP.
RESULTS
The presence of the TT genotype of the EPHA6 rs4857055 C > T SNP was associated with a higher risk of hypertension after adjusting for age, sex, body mass index (BMI), smoking, and drinking [odds ratio 1.533, P = 0.001]. In the control group, significant associations were observed between systolic BP and the rs4857055 polymorphism and between diastolic BP and the rs4857055 polymorphism. In the hypertension group, a significant association was observed between systolic BP and the rs4857055 polymorphism. In the hypertension group, subjects with the TT genotype showed significantly higher systolic BP than CC subjects. Additionally, in the hypertension group, TT carriers showed a higher tendency of serum triglyceride (P = 0.069) and significantly higher apolipoprotein B (P = 0.015) and smaller low-density lipoprotein (LDL) particle size (P < 0.001) than either TC or CC subjects.
CONCLUSIONS
These results could suggest that the EPHA6 rs4857055 C > T SNP is a novel candidate gene for hypertension in the Korean population. Additionally, the TT genotype could be associated with hypertriglyceridemia and small LDL particle size in hypertension.
背景
促红细胞生成素产生的人肝细胞（Eph）受体可能有助于动脉粥样硬化的发展。全基因组关联研究表明，Eph 受体 A6 基因（EPHA6）与至少 1 种血压（BP）表型相关。本研究的目的是确定 EPHA6 是否是韩国人群高血压的一个新的候选基因。
方法
共纳入 2146 名血压正常和高血压的研究参与者。使用韩国芯片获得基因型数据。为了评估单核苷酸多态性（SNP）与 BP 之间的关联，我们进行了线性回归分析，结果显示 EPHA6 基因中的 rs4850755 与收缩压和舒张压的关联最密切。
结果
在调整年龄、性别、体重指数（BMI）、吸烟和饮酒等因素后，EPHA6 rs4857055 C > T 基因的 TT 基因型与高血压的发病风险增加相关[比值比 1.533，P = 0.001]。在对照组中，rs4857055 多态性与收缩压之间以及 rs4857055 多态性与舒张压之间存在显著关联。在高血压组中，收缩压与 rs4857055 多态性之间存在显著关联。在高血压组中，TT 基因型的受试者收缩压明显高于 CC 受试者。此外，在高血压组中，TT 携带者的血清三酰甘油水平升高趋势更明显（P = 0.069），载脂蛋白 B 水平明显升高（P = 0.015），低密度脂蛋白（LDL）颗粒尺寸更小（P < 0.001）。
结论
这些结果表明，EPHA6 rs4857055 C > T 单核苷酸多态性是韩国人群高血压的一个新的候选基因。此外，TT 基因型可能与高血压患者的高三酰甘油血症和小 LDL 颗粒大小有关。
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