Common dysfunctional variants in ABCG2 are a major cause of early-onset gout.
Common dysfunctional variants in ABCG2 are a major cause of early-onset gout.
复制标题
DOI：
10.1038/srep02014
复制
发表时间：
2013
影响因子：
4.6
通讯作者：
Shinomiya N
中科院分区：
文献类型：
--
作者：
Matsuo H;Ichida K;Takada T;Nakayama A;Nakashima H;Nakamura T;Kawamura Y;Takada Y;Yamamoto K;Inoue H;Oikawa Y;Naito M;Hishida A;Wakai K;Okada C;Shimizu S;Sakiyama M;Chiba T;Ogata H;Niwa K;Hosoyamada M;Mori A;Hamajima N;Suzuki H;Kanai Y;Sakurai Y;Hosoya T;Shimizu T;Shinomiya N
痛风是一种常见病，多发生在中年以后，但现在越来越多的人在30岁之前发病。我们研究了ABCG 2（一种调节血清尿酸水平的高容量尿酸盐转运蛋白）的常见功能障碍是否会导致早发性痛风。对705例有发病年龄数据的日本男性痛风患者和1，887例男性对照进行基因分型，并确定通过其基因型组合估计的ABCG 2功能。ABCG 2功能严重障碍患者的发病年龄比ABCG 2功能正常者早6.5岁（P = 6.14 × 10−3）。轻至重度ABCG 2功能障碍的患者占早发病例（20岁或以下）的88.2%。严重的ABCG 2功能障碍尤其增加了早发性痛风的风险（比值比22.2，P = 4.66 × 10−6）。我们发现ABCG2的常见功能障碍是早发性痛风的主要原因，这将有助于改善高危人群的早期预防和治疗。
Gout is a common disease which mostly occurs after middle age, but more people nowadays develop it before the age of thirty. We investigated whether common dysfunction of ABCG2, a high-capacity urate transporter which regulates serum uric acid levels, causes early-onset gout. 705 Japanese male gout cases with onset age data and 1,887 male controls were genotyped, and the ABCG2 functions which are estimated by its genotype combination were determined. The onset age was 6.5 years earlier with severe ABCG2 dysfunction than with normal ABCG2 function (P = 6.14 × 10−3). Patients with mild to severe ABCG2 dysfunction accounted for 88.2% of early-onset cases (twenties or younger). Severe ABCG2 dysfunction particularly increased the risk of early-onset gout (odds ratio 22.2, P = 4.66 × 10−6). Our finding that common dysfunction of ABCG2 is a major cause of early-onset gout will serve to improve earlier prevention and therapy for high-risk individuals.
登录
查看更多内容
DOI：
10.1056/nejmoa072366
发表时间：
2007-08-02
期刊：
The New England journal of medicine
影响因子：
--
作者：
Samani NJ;Erdmann J;Hall AS;Hengstenberg C;Mangino M;Mayer B;Dixon RJ;Meitinger T;Braund P;Wichmann HE;Barrett JH;König IR;Stevens SE;Szymczak S;Tregouet DA;Iles MM;Pahlke F;Pollard H;Lieb W;Cambien F;Fischer M;Ouwehand W;Blankenberg S;Balmforth AJ;Baessler A;Ball SG;Strom TM;Braenne I;Gieger C;Deloukas P;Tobin MD;Ziegler A;Thompson JR;Schunkert H;WTCCC and the Cardiogenics Consortium
通讯作者：
WTCCC and the Cardiogenics Consortium
影响因子：
16.6
作者：
通讯作者：
--
影响因子：
4.1
作者：
Margraf, Rebecca L.;Mao, Rong;Wittwer, Carl T.
通讯作者：
Wittwer, Carl T.
影响因子：
64.8
作者：
Enomoto, A;Kimura, H;Endou, H
通讯作者：
Endou, H
影响因子：
158.5
作者：
CANNON, PJ;STASON, WB;LARAGH, JH
通讯作者：
LARAGH, JH