遗传 ›› 2016, Vol. 38 ›› Issue (4): 300-313.doi: 10.16288/j.yczz.15-385
郑敏, 麻骏武
收稿日期:2015-09-10
修回日期:2015-11-25
出版日期:2016-04-20
发布日期:2016-04-20
通讯作者:
麻骏武,博士,副教授,硕士生导师,研究方向：动物遗传育种与繁殖。E-mail: ma_junwu@hotmail.com
作者简介:郑敏,硕士研究生,专业方向：动物遗传育种与繁殖。E-mail: wuzhizhengmin@163.com
基金资助:Min Zheng, Junwu Ma
Received:2015-09-10
Revised:2015-11-25
Online:2016-04-20
Published:2016-04-20
摘要： 痛风是由高尿酸血症引发的一种常见炎性关节炎,受遗传因素和环境因素共同作用。早期研究表明,PRPS1和HPRT1等单基因稀有突变会引起嘌呤合成代谢紊乱,从而引发高尿酸血症和痛风。近年来,全基因组关联分析(Genome-wide association studies,GWAS)已检出多个导致高尿酸血症和痛风的易感位点及相关候选基因。其中SLC2A9、SLC22A11和SLC22A12基因功能缺失性突变可引起遗传性低尿酸血症,而过表达则会加强尿酸的重吸收。ABCG2、SLC17A1和SLC17A3基因功能缺陷型变异会降低肾脏和肠道对尿酸的排泄量。因此,诱发尿酸排泄障碍(高重吸收和低排泄)的基因变异是影响高尿酸血症和痛风的主要遗传因素。另外,抑制-激活生长因子系统、转录因子、细胞骨架以及基因和环境的互作等因素也一定程度影响血液尿酸水平。在中国汉族人群中,两个新发现的易感基因RFX3和KCNQ1可能造成免疫应答受损和胰岛B细胞功能缺陷,从而直接或间接引起高尿酸酸血症和痛风。本文系统综述了高尿酸血症和痛风的遗传学研究,以促进人们对高尿酸血症和痛风发病机理的理解。
郑敏, 麻骏武. 高尿酸血症和痛风的遗传学研究进展[J]. 遗传, 2016, 38(4): 300-313.
Min Zheng, Junwu Ma. Research progress in the genetics of hyperuricaemia and gout[J]. HEREDITAS(Beijing), 2016, 38(4): 300-313.
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