Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.

ABSTRACT:

Objectives

Gout, caused by chronic elevation of serum uric acid levels, is the commonest form of inflammatory arthritis. The causative effect of common and rare variants of ATP-binding cassette transporter G2 (ABCG2/BCRP) on gout risk has been studied, but little attention has been paid to the effect of common (rs121907892, p.W258X) and rare variants of urate transporter 1 (URAT1/SLC22A12) on gout, despite dysfunctional variants of URAT1 having been identified as pathophysiological causes of renal hypouricaemia.

Methods

To address this important but overlooked issue, we investigated the effects of these URAT1 variants on gout susceptibility, using targeted exon sequencing on 480 clinically defined gout cases and 480 controls of Japanese males in combination with a series of

SUBMITTER: Toyoda Y 

PROVIDER: S-EPMC8566256 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature