高尿酸血症GWAS研究进展  

Research progress of GWAS in hyperuricemia

作　　者：徐明珠 徐昕[1,2] 夏阳[1,2] 吴琪俊[1,2] 赵玉虹[1,2] XYU Mingzhu;XYU Xin;XIA Yang;WU Qijun;ZHAO Yuhong(Department of Clinical Epidemiology,Shengjing Hospital of China Medical University,Shenyang,Liaoning 110004,China;Clinical Research Center,Shengjing Hospital of China Medical University,Shenyang Liaoning 110004,China)

机构地区：[1]中国医科大学附属盛京医院临床流行病学教研室,沈阳110004 [2]中国医科大学附属盛京医院临床研究中心,沈阳110004

出　　处：《公共卫生与预防医学》2020年第5期109-113,共5页Journal of Public Health and Preventive Medicine

基　　金：国家重点研发计划“精准医学”重点专项(2017YFC0907401);辽宁省“兴辽英才计划”项目(XLYC1802095)。

摘　　要：高尿酸血症是尿酸合成与排泄失衡所致慢性疾病,受环境与遗传因素共同影响所致。对近十年不同地区开展的高尿酸血症相关的全基因组关联性分析进行综述,结果显示高尿酸血症相关基因可能具有地区特异性。对全基因组关联性分析检测出的基因及其部分分子学机制进行描述,对欧洲、亚洲、非洲和南美洲人群的共有的高尿酸血症相关基因以及亚洲人群特有高尿酸血症相关基因及其部分功能进行综述,以促进人们对于高尿酸血症发病机理的认识。Hyperuricemia is a chronic disease caused by the imbalance of uric acid synthesis and excretion,which is influenced by both environmental and genetic factors.The results of genome-wide association analysis related to hyperuricemia in different regions during the past decade have shown that genes related to hyperuricemia may be region-specific.This article summarizes the genes detected by GWAS,and describes some of the involved molecular mechanisms.The genes related to hyperuricemia shared by people in Europe,Asia,Africa and South America,and genes related to hyperuricemia unique to Asian populations are reviewed in this article.In addition,some of the genes′functions are discussed to enhance the understanding of the pathogenesis of hyperuricemia.

关 键 词：高尿酸血症(HUA) 基因 全基因组关联分析 

分 类 号：R181[医药卫生—流行病学]