ABCMdb

PMID: 24827988

Stiburkova B, Pavlikova M, Sokolova J, Kozich V
Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration.
PLoS One. 2014 May 14;9(5):e97646. doi: 10.1371/journal.pone.0097646. eCollection 2014., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCG2 p.Gln141Lys Variant c.421C.A (rs2231142, p.Q141K) results in a reduction of the urate transport rate by 53% compared with that for the wild-type ABCG2 and causes approximately 10% of the hyperuricemia and gout cases in Caucasians [28]. Login to comment 74 ABCG2 p.Gln141Lys Genotype analysis The frequent genetic variants of genes encoding the urate transporter SLC2A9 (c.844G.A (rs16890979, p.V282I) and c.881G.A (rs3733591, p.R294H)), the urate transporter ABCG2 (c.421C.A (rs2231142, p.Q141K)) and the MTHFR enzyme (c.665C.T (known as c.677C.T; rs1801133, p.A222V) and c.1286A.C (known as c.1298A.C; rs1801131, p.E429A)) were selected for genotype analysis. Login to comment