ABCMdb

PMID: 19890391

Stark K, Reinhard W, Grassl M, Erdmann J, Schunkert H, Illig T, Hengstenberg C
Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease.
PLoS One. 2009 Nov 5;4(11):e7729., [PubMed]

Sentences

No. Mutations Sentence Comment

115 ABCG2 p.Gln141Lys SNP Position a Major allele (1) Minor allele (2) Gene name(s) Function Call rate b rs12129861 Chr1: 144,437,046 G A PDZK1 59 Intergenic 98.4% rs780094 Chr2: 27,594,741 C T GCKR Intron 16 99.2% rs734553 Chr4: 9,532,102 T G SLC2A9 GLUT9 Intron 7 96.0% rs6855911 Chr4: 9,545,008 A G SLC2A9 GLUT9 Intron 7 99.0% rs2231142 Chr4: 89,271,347 G T ABCG2 Exon 5 Q141K 99.2% rs742132 Chr6: 25,715,550 A G LRRC16A Intron 34 99.4% rs1183201 Chr6: 25,931,423 T A SLC17A1 Intron 3 98.2% rs12356193 Chr10: 61,083,359 A G SLC16A9 Intron 5 98.7% rs17300741 Chr11: 64,088,038 G A SLC22A11 Intron 4 98.2% rs505802 Chr11: 64,113,648 T C SLC22A12 URAT1 59 Intergenic 99.3% a on human genome build 18. b in total sample (n = 4,960). Login to comment 120 ABCG2 p.Gln141Lys This is the only marker examined that leads to a missense mutation with an amino acid exchange from glutamine to lysine at position 141 in ABCG2 transporter and therefore could have a direct and causal influence on development of the disease [6]. Login to comment