PMID: 22229870

Karns R, Zhang G, Sun G, Rao Indugula S, Cheng H, Havas-Augustin D, Novokmet N, Rudan D, Durakovic Z, Missoni S, Chakraborty R, Rudan P, Deka R
Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.
Ann Hum Genet. 2012 Mar;76(2):121-7. doi: 10.1111/j.1469-1809.2011.00698.x. Epub 2012 Jan 9., [PubMed]
Sentences
No. Mutations Sentence Comment
67 ABCG2 p.Gln141Lys
X
ABCG2 p.Gln141Lys 22229870:67:222
status: NEW
view ABCG2 p.Gln141Lys details
 ABCG2 is a confirmed uric-acid-associated gene (Dehghan et al., 2008; Kolz et al., 2009; Yang et al., 2010) and the variant, showing the highest signal (P = 5.14×10-6 ) is a nonsynonymous SNP (rs2231142, NP_004818.2, Gln141Lys) and the mutant allele associated with an average increase of 27.40 μmol/L (Supplementary Fig. S3). Login to comment