Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs505802 in SLC22A12 were confirmed to be associated with gout arthritis and uric acid concentrations in Han Chinese males.
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
Three reabsorption SNP (SLC22A12/URAT1, SLC2A9/GLUT9, and SLC22A11/OAT4) and 2 secretion transporter SNP (SLC17A1/NPT1 and ABCG2/BRCP) were studied in 104 patients with primary gout and in 300 control subjects.
Besides the novel MHC class 1-like HH candidate gene HLA-H, we identified a family of five butyrophilin-related sequences, two genes with structural similarity to a type 1 sodium phosphate transporter, 12 novel histone genes, and a gene we named RoRet based on its strong similarity to the 52-kD Ro/SSA lupus and Sjogren's syndrome auto-antigen and the RET finger protein.
ICSNPathway analysis identified 14 candidate causal SNPs, five genes, and two candidate causal pathways, which provided two hypothetical biologic mechanisms: (1) rs2728121 (regulatory region) to polycystic kidney disease 2 (PKD2) to ion transmembrane transporter activity; (2) rs942377, rs3799346, rs3799344, rs2762353, rs13197601, rs3757131, rs1165215, rs1165196 to SLC17A1 to ion transmembrane transporter activity and secondary active transmembrane transporter activity.