[1]王英楠,成志锋.ABCG2基因多态性与痛风[J].国际内分泌代谢杂志,2020,40(05):351-354.[doi:10.3760/cma.j.cn121383-20200216-02026]
 Wang Yingnan,Cheng Zhifeng.ABCG2 Gene polymorphism and gout Medical University, Harbin 150001, China[J].International Journal of Endocrinology and Metabolism,2020,40(05):351-354.[doi:10.3760/cma.j.cn121383-20200216-02026]
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ABCG2基因多态性与痛风()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
40
期数:
2020年05期
页码:
351-354
栏目:
综述
出版日期:
2020-09-20

文章信息/Info

Title:
ABCG2 Gene polymorphism and gout Medical University, Harbin 150001, China
作者:
王英楠成志锋
哈尔滨医科大学附属第四医院内分泌与代谢病科 150001
Author(s):
Wang Yingnan Cheng Zhifeng
Department of Endocrinology and Metabolism, The Fourth Affiliated Hospital of Harbin
关键词:
痛风 ABCG2 基因多态性
Keywords:
Gout ABCG2 Gene polymorphism
DOI:
10.3760/cma.j.cn121383-20200216-02026
文献标志码:
A
摘要:
ABCG2是一种尿酸转运蛋白,与其他转运体相比,ABCG2基因变异种类较多,其基因突变与高血尿酸水平以及痛风相关,因此对于ABCG2基因多态性的功能研究众多,其 功能障碍主要损害尿酸转运功能,使血尿酸水平升高,从而导致痛风发作。近年研究发现,ABCG2具有3种常见变异体及大量稀有变异体,其中Q141K、Q126X影响痛风发生; V12M 具有痛风保护作用; 大多稀有变异体则因其质膜定位不足或无尿酸转运功能而不参与痛风的发生。同时,Q141K也被证实参与痛风治疗药物的不良反应。
Abstract:
ABCG2 is a kind of uric acid transporters, and compared to other transporters, ABCG2 has more gene variant species, the mutation has been linked to high levels of uric acid and gout, therefore, there are many studies on the polymorphism function of ABCG2 gene, its dysfunction mainly damages uric acid transfer function to produce higher levels of uric acid, causing gout attacks. In recent years, it has been found that ABCG2 has three common variants and a large number of rare variants. Among them, Q141K and Q126X affect the occurrence of gout.V12M has the protective effect of gout.Most rare variants were found not to be involved in the occurrence of gout due to inadequate plasma membrane localization or lack of uric acid transport.Meanwhile, Q141K has also been confirmed to be involved in the adverse reactions of drugs used in gout.

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备注/Memo

备注/Memo:
通信作者:成志锋, Email:18903602198@163.com
更新日期/Last Update: 2020-09-20