Cheng Shih-Tsung, Wu Semon, Su Cheng-Wen, Teng Ming-Sheng, Hsu Lung-An, Ko Yu-Lin
The Division of Cardiology, Department of Internal Medicine and Cardiovascular Medical Center, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taipei, Taiwan; Tzu Chi University College of Medicine, Hualien, Taiwan.
Department of Research, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Taipei, Taiwan; Department of Life Science, Chinese Culture University, Taipei, Taiwan.
J Formos Med Assoc. 2017 Jan;116(1):18-23. doi: 10.1016/j.jfma.2015.12.002. Epub 2016 Jan 17.
BACKGROUND/PURPOSE: Recent studies suggest that hyperuricemia is a potential risk factor for cardiovascular disease (CVD). Hyperuricemia is highly heritable and is associated with sex and body weight. Previous genome-wide association studies have found that the ABCG2 single nucleotide polymorphism (SNP) rs2231142 is an important genetic factor for increased uric acid (UA) levels, and the degree of association between rs2231142 and hyperuricemia is affected by both sex and ethnicity. This investigation aimed to analyze the association between ABCG2 polymorphisms and UA levels, as well as their interactions with sex and obesity in Taiwanese.
Two genetic polymorphisms around the ABCG2 gene were genotyped in 459 patients.
After adjusting for clinical covariates, the rs2231142 SNP was found significantly associated with UA levels using a dominant inheritance model. Patients carrying the rs2231142-A allele had a higher frequency of hyperuricemia than those with the rs2231142-CC allele. Subgroup analysis revealed an association of rs2231142 with UA levels in male or obese patients, and there was no association in nonobese female patients.
The rs2231142 SNP is associated with serum UA levels and hyperuricemia in Taiwanese patients and it occurs predominantly in male or obese patients. Hyperuricemia might be controlled differently by sex and obesity.
背景/目的:近期研究表明,高尿酸血症是心血管疾病(CVD)的一个潜在危险因素。高尿酸血症具有高度遗传性,且与性别和体重有关。先前的全基因组关联研究发现,ABCG2单核苷酸多态性(SNP)rs2231142是尿酸(UA)水平升高的一个重要遗传因素,rs2231142与高尿酸血症之间的关联程度受性别和种族两者影响。本研究旨在分析台湾人群中ABCG2基因多态性与UA水平之间的关联,以及它们与性别和肥胖的相互作用。
对459例患者的ABCG2基因周围的两个基因多态性进行基因分型。
在调整临床协变量后,使用显性遗传模型发现rs2231142 SNP与UA水平显著相关。携带rs2231142 - A等位基因的患者高尿酸血症的发生率高于携带rs2231142 - CC等位基因的患者。亚组分析显示rs2231142与男性或肥胖患者的UA水平相关,而在非肥胖女性患者中无关联。
rs2231142 SNP与台湾患者的血清UA水平和高尿酸血症相关,且主要发生在男性或肥胖患者中。高尿酸血症可能因性别和肥胖而有不同的控制方式。