ABCMdb

PMID: 20421215

Yamagishi K, Tanigawa T, Kitamura A, Kottgen A, Folsom AR, Iso H
The rs2231142 variant of the ABCG2 gene is associated with uric acid levels and gout among Japanese people.
Rheumatology (Oxford). 2010 Aug;49(8):1461-5. Epub 2010 Apr 25., [PubMed]

Sentences

No. Mutations Sentence Comment

31 ABCG2 p.Gln141Lys The rs2231142 variant in ABCG2 (Q141K) was genotyped in participants in community surveys in 2001 in Kyowa and in 2003 in Ikawa, as a part of the CIRCS. Login to comment 86 ABCG2 p.Gln141Lys ABCG2 p.Gln126* A recent functional and association study of Japanese people [8] has identified another causal SNP of ABCG2, Q126X, with less frequency of minor allele (1.8% among control), but stronger effect on gout/hyperuricaemia than presently analysed ABCG2 (Q141K). Login to comment