Lin Rong, Wang Xiaofeng, Zhou Weichen, Fu Wenqing, Wang Ying, Huang Wei, Jin Li
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, China.
Ann Hum Genet. 2011 Mar;75(2):305-11. doi: 10.1111/j.1469-1809.2010.00622.x. Epub 2010 Dec 1.
Solute carrier organic anion transporter family member 1B1 (SLCO1B1) is an important hepatic uptake transporter that can transport a wide variety of endogenous compounds, including thyroid hormones and prostaglandin E2. Dysregulation of thyroid hormones and prostaglandin E2 plays a role in the development of hypertension, suggesting that SLCO1B1 might contribute to the aetiology of essential hypertension (EH). In this study, we selected five single nucleotide polymorphisms (SNPs) at the SLCO1B1 gene promoter or coding regions and performed a case-control association study involving 731 unrelated Uyghur subjects, including 374 hypertensive and 357 normotensive individuals, to investigate the potential genetic contribution of SLCO1B1 to the aetiology of EH. Of the five polymorphisms, only one (i.e., rs4149014) showed correlation with EH. The minor allele of SNP rs4149014 at the SLCO1B1 promoter showed association with increased risk for EH (adjusted OR 1.88; 95% CI 1.36-2.60; P= 1.22 × 10(-4)). This study provides preliminary genetic evidence for the role of variant of SLCO1B1 in the susceptibility to human EH in Uyghurs.
溶质载体有机阴离子转运体家族成员1B1(SLCO1B1)是一种重要的肝脏摄取转运体,可转运多种内源性化合物,包括甲状腺激素和前列腺素E2。甲状腺激素和前列腺素E2的失调在高血压的发生发展中起作用,这表明SLCO1B1可能与原发性高血压(EH)的病因有关。在本研究中,我们在SLCO1B1基因启动子或编码区选择了5个单核苷酸多态性(SNP),并对731名无亲缘关系的维吾尔族受试者进行了病例对照关联研究,其中包括374名高血压患者和357名血压正常者,以研究SLCO1B1对EH病因的潜在遗传贡献。在这5个多态性中,只有一个(即rs4149014)与EH相关。SLCO1B1启动子处SNP rs4149014的次要等位基因与EH风险增加相关(校正比值比1.88;95%可信区间1.36 - 2.60;P = 1.22×10⁻⁴)。本研究为SLCO1B1变异体在维吾尔族人患EH易感性中的作用提供了初步的遗传学证据。