ABCMdb

PMID: 18834626

Dehghan A, Kottgen A, Yang Q, Hwang SJ, Kao WL, Rivadeneira F, Boerwinkle E, Levy D, Hofman A, Astor BC, Benjamin EJ, van Duijn CM, Witteman JC, Coresh J, Fox CS
Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study.
Lancet. 2008 Dec 6;372(9654):1953-61. Epub 2008 Oct 1., 2008-12-06 [PubMed]

Sentences

No. Mutations Sentence Comment

71 ABCG2 p.Gln141Lys **Chromosome 4 (89271347) in ABCG2; alleles= G/T (Q141K). Login to comment 154 ABCG2 p.Gln141Lys A missense SNP in ABCG2 (rs2231142; Q141K) was associated with uric acid concentration and gout in both white and black individuals and may be a causal candidate variant. Login to comment 165 ABCG2 p.Gln141Lys This SNP in exon 5 leads to a glutamine-to-lysine aminoacid substitution (Q141K). Login to comment 168 ABCG2 p.Gln141Lys Three other SNPs located downstream of and in disequilibrium with the Q141K variant were associated with uric acid, two of which are within the polycystic kidney disease 2 gene (PKD2). Login to comment 169 ABCG2 p.Gln141Lys However, neither these nor other SNPs in the region were independently associated with uric acid when adjusted for the Q141K variant in either the Framingham or the Rotterdam cohort. Login to comment 170 ABCG2 p.Gln141Lys This evidence together with the weak linkage disequilibrium pattern in the ABCG2 region in the HapMap Yoruban sample and thesignificantassociationofrs2231142inblackparticipants in the ARIC study, despite the low minor allele frequency of 3%, suggests that the ABCG2 Q141K variant (rs2231142) could be causally related to uric acid concentration. Login to comment