ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout.
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ABSTRACT:
SUBMITTER: Matsuo H
PROVIDER: S-EPMC4369280 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Publications
ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout.
Matsuo Hirotaka H Tomiyama Hiroyuki H Satake Wataru W Chiba Toshinori T Onoue Hiroyuki H Kawamura Yusuke Y Nakayama Akiyoshi A Shimizu Seiko S Sakiyama Masayuki M Funayama Manabu M Nishioka Kenya K Shimizu Toru T Kaida Kenichi K Kamakura Keiko K Toda Tatsushi T Hattori Nobutaka N Shinomiya Nariyoshi N
Annals of clinical and translational neurology 20150119 3
Uric acid (urate) has been suggested to play a protective role in Parkinson's disease onset through its antioxidant activity. Dysfunction of ABCG2, a high-capacity urate exporter, is a major cause for early-onset gout based on hyperuricemia. In this study, the effects of a dysfunctional ABCG2 variant (Q141K, rs2231142) were analyzed on the ages at onset of gout patients (N = 507) and Parkinson's disease patients (N = 1015). The Q141K variant hastened the gout onset (P = 0.0027), but significantl ...[more]
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Project description: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.
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2019-12-06 | PXD011326 | Pride