ABCMdb

PMID: 23307580

George RL, Keenan RT
Genetics of hyperuricemia and gout: implications for the present and future.
Curr Rheumatol Rep. 2013 Feb;15(2):309. doi: 10.1007/s11926-012-0309-8., [PubMed]

Sentences

No. Mutations Sentence Comment

121 ABCG2 p.Gln141Lys Overall, the ABCG2 gene (SNP rs2231142, Q141K variant) had a stronger effect in men than women. Login to comment 129 ABCG2 p.Gln141Lys ABCG2 p.Gln126* The investigators found that common dysfunctional genotype combinations of ABCG2 gene (variants, Q126X and Q141K) are a major cause of gout [48]. Login to comment 135 ABCG2 p.Gln141Lys ABCG2 p.Gln126* The relationship between overproduction, hyperuricemia, and ABCG2 dysfunction led the authors to propose a new, testable model of hyperuricemia that takes into account population genotypes such as Q126X and Q141K affecting ABCG2 function. Login to comment 141 ABCG2 p.Gln141Lys ABCG2 rs2231142 SNP (Q141K variant) decreased urate transport rates by approximately 50 % in vitro. Login to comment 198 ABCG2 p.Gly406Leu ABCG2 p.Gly410Leu ABCG2 p.Thr402Leu In the context of gout, the ABCG2 ligand mitoxantrone (an ABCG2 ligand) improved the altered protein structure of the T402L-G404L-G406L-G410L mutant in vitro [66]. Login to comment