ABCMdb

PMID: 26506822

Jiri M, Zhang L, Lan B, He N, Feng T, Liu K, Jin T, Kang L
Genetic variation in the ABCG2 gene is associated with gout risk in the Chinese Han population.
Clin Rheumatol. 2015 Oct 27., [PubMed]

Sentences

No. Mutations Sentence Comment

25 ABCG2 p.Gln141Lys The most significant association at one of the loci was observed for a missense single-nucleotide polymorphism (SNP), rs2231142 (glutamine-to-lysine amino acid substitution (Q141K)) in the ABCG2 gene. Login to comment 74 ABCG2 p.Gln141Lys ABCG2 p.Gln126* ABCG2 is a high-capacity urate transporter which physiologically excretes urate Fig. 1 Haplotype block map for ABCG2 SNPs Table 3 ABCG2 haplotype frequencies and their association with gout (adjust by age and sex) Gene(s) Haplotype Frequency OR (95 % CI) p value ABCG2 GCCTAGT 0.2868 1 - GGCTCTC 0.2092 0.46 (0.28-0.75) 0.0019 AGACCTC 0.2014 0.71 (0.45-1.12) 0.14 GCCTCTC 0.0735 1.10 (0.57-2.13) 0.78 GGACCTC 0.0669 0.57 (0.27-1.18) 0.13 GCCTATC 0.0582 1.53 (0.75-3.14) 0.24 GGCTAGT 0.0378 0.37 (0.12-1.16) 0.09 GCCTAGC 0.0124 0.80 (0.19-3.46) 0.77 GCCTAGT 0.0538 0.47 (0.19-.13) 0.092 p value<0.05 indicates statistical significance OR odds ratio, CI confidence interval for the regulation of SUA. ABCG2 has the following two common dysfunctional variants: a non-sense variant Q126X and a missense variant Q141K [19, 22]. Login to comment