ABCMdb

PMID: 25646370

Matsuo H, Yamamoto K, Nakaoka H, Nakayama A, Sakiyama M, Chiba T, Takahashi A, Nakamura T, Nakashima H, Takada Y, Danjoh I, Shimizu S, Abe J, Kawamura Y, Terashige S, Ogata H, Tatsukawa S, Yin G, Okada R, Morita E, Naito M, Tokumasu A, Onoue H, Iwaya K, Ito T, Takada T, Inoue K, Kato Y, Nakamura Y, Sakurai Y, Suzuki H, Kanai Y, Hosoya T, Hamajima N, Inoue I, Kubo M, Ichida K, Ooyama H, Shimizu T, Shinomiya N
Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.
Ann Rheum Dis. 2015 Feb 2. pii: annrheumdis-2014-206191. doi: 10.1136/annrheumdis-2014-206191., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCG2 p.Gln141Lys Two dysfunctional SNPs of ABCG2 We previously demonstrated that two dysfunctional SNPs of ABCG2, rs72552713 (Gln126Ter) and rs2231142 (Gln141Lys), were located on different haplotypes4 18 and strongly associated with hyperuricaemia and gout.4 18 32 Therefore, we additionally performed genotyping of these two SNPs by an allelic discrimination assay because SNPs are not on Illumina HumanOmniExpress V .1.0 (Illumina). Login to comment 86 ABCG2 p.Gln141Lys ABCG2 is identified to have an association with SUA levels by recent GWASs.9-16 Subsequent genetic and functional analysis17 18 revealed that ABCG2 is a high-capacity urate exporter and shows the reduced transport of urate by a common half-functional variant, rs2231142 (Gln141Lys). Login to comment 109 ABCG2 p.Gln141Lys &#a7;Non-synonymous SNPs (rs1260326, Leu446Pro; rs72552713, Gln126Ter; and rs2231142, Gln141Lys). Login to comment