Table 1.
SNPs associated with serum urate concentrations in individuals of European ancestry
| SNP | Chr. | bp (Build 36) | Closest gene | GRAIL gene | A1 | A2 | Freq. A1 | Serum urate (mg/dl)
|
Gout
|
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|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Effect | s.e. | P value | OR | P value | ||||||||
| Discovered loci described previously | ||||||||||||
| rs1471633 | 1 | 144435096 | PDZK1 | PDZK1 | A | C | 0.46 | 0.059 | 0.005 | 1.2 × 10−29 | 1.03 | 2.8 × 10−1 |
| rs1260326 | 2 | 27584444 | GCKR | GCKR | T | C | 0.41 | 0.074 | 0.005 | 1.2 × 10−44 | 1.14 | 8.2 × 10−6 |
| rs12498742 | 4 | 9553150 | SLC2A9 | SLC2A9 | A | G | 0.77 | 0.373 | 0.006 | 0b | 1.56 | 1.9 × 10−31 |
| rs2231142 | 4 | 89271347 | ABCG2 | ABCG2 | T | G | 0.11 | 0.217 | 0.009 | 1.0 × 10−134 | 1.73 | 1.7 × 10−39 |
| rs675209 | 6 | 7047083 | RREB1 | RREB1 | T | C | 0.27 | 0.061 | 0.006 | 1.3 × 10−23 | 1.09 | 1.1 × 10−2 |
| rs1165151 | 6 | 25929595 | SLC17A1 | SLC17A3 | T | G | 0.47 | −0.091 | 0.005 | 7.0 × 10−70 | 0.86 | 5.3 × 10−7 |
| rs1171614 | 10 | 61139544 | SLC16A9 | SLC16A9 | T | C | 0.22 | −0.079 | 0.007 | 2.3 × 10−28 | 0.91 | 1.7 × 10−2 |
| rs2078267 | 11 | 64090690 | SLC22A11 | SLC22A11 | T | C | 0.51 | −0.073 | 0.006 | 9.4 × 10−38 | 0.88 | 2.3 × 10−5 |
| rs478607 | 11 | 64234639 | NRXN2 | SLC22A12 | A | G | 0.84 | −0.047 | 0.007 | 4.4 × 10−11 | 0.97 | 4.1 × 10−1 |
| rs3741414 | 12 | 56130316 | INHBC | INHBE | T | C | 0.24 | −0.072 | 0.007 | 2.2 × 10−25 | 0.87 | 2.7 × 10−4 |
| New loci | ||||||||||||
| rs11264341 | 1 | 153418117 | TRIM46 | PKLR | T | C | 0.43 | −0.050 | 0.006 | 6.2 × 10−19 | 0.92 | 7.4 × 10−3 |
| rs17050272 | 2 | 121022910 | INHBB | INHBB | A | G | 0.43 | 0.035 | 0.006 | 1.6 × 10−10 | 1.03 | 3.9 × 10−1 |
| rs2307394a | 2 | 148432898 | ORC4L | ACVR2A | T | C | 0.68 | −0.029 | 0.005 | 2.2 × 10−8 | 0.94 | 6.3 × 10−2 |
| rs6770152 | 3 | 53075254 | SFMBT1 | MUSTN1 | T | G | 0.58 | −0.044 | 0.005 | 2.6 × 10−16 | 0.90 | 3.0 × 10−4 |
| rs17632159 | 5 | 72467238 | TMEM171 | TMEM171 | C | G | 0.31 | −0.039 | 0.006 | 3.5 × 10−11 | 0.91 | 6.0 × 10−3 |
| rs729761 | 6 | 43912549 | VEGFA | VEGFA | T | G | 0.30 | −0.047 | 0.006 | 8.0 × 10−16 | 0.87 | 4.1 × 10−5 |
| rs1178977 | 7 | 72494985 | BAZ1B | MLXIPL | A | G | 0.81 | 0.047 | 0.007 | 1.2 × 10−12 | 1.14 | 6.7 × 10−4 |
| rs10480300 | 7 | 151036938 | PRKAG2 | PRKAG2 | T | C | 0.28 | 0.035 | 0.006 | 4.1 × 10−9 | 1.09 | 6.5 × 10−3 |
| rs17786744 | 8 | 23832951 | STC1 | STC1 | A | G | 0.58 | −0.029 | 0.005 | 1.4 × 10−8 | 0.93 | 2.1 × 10−2 |
| rs2941484 | 8 | 76641323 | HNF4G | HNF4G | T | C | 0.44 | 0.044 | 0.005 | 4.4 × 10−17 | 1.04 | 1.7 × 10−1 |
| rs10821905 | 10 | 52316099 | A1CF | ASAH2 | A | G | 0.18 | 0.057 | 0.007 | 7.4 × 10−17 | 1.09 | 2.6 × 10−2 |
| rs642803a | 11 | 65317196 | OVOL1 | LTBP3 | T | C | 0.46 | −0.036 | 0.005 | 2.9 × 10−13 | 0.90 | 2.2 × 10−4 |
| rs653178 | 12 | 110492139 | ATXN2 | PTPN11 | T | C | 0.51 | −0.035 | 0.005 | 7.2 × 10−12 | 0.95 | 7.3 × 10−2 |
| rs1394125 | 15 | 73946038 | UBE2Q2 | NRG4 | A | G | 0.34 | 0.043 | 0.006 | 2.5 × 10−13 | 1.03 | 3.6 × 10−1 |
| rs6598541 | 15 | 97088658 | IGF1R | IGF1R | A | G | 0.36 | 0.043 | 0.006 | 4.8 × 10−15 | 1.04 | 2.5 × 10−1 |
| rs7193778 | 16 | 68121391 | NFAT5 | NFAT5 | T | C | 0.86 | −0.046 | 0.008 | 8.2 × 10−10 | 0.92 | 3.4 × 10−2 |
| rs7188445 | 16 | 78292488 | MAF | MAF | A | G | 0.33 | −0.032 | 0.005 | 1.6 × 10−9 | 0.95 | 1.1 × 10−1 |
| rs7224610 | 17 | 50719787 | HLF | HLF | A | C | 0.58 | −0.042 | 0.005 | 5.4 × 10−17 | 0.96 | 1.6 × 10−1 |
| rs2079742a | 17 | 56820479 | BCAS3 | C17orf82 | T | C | 0.85 | 0.043 | 0.008 | 1.2 × 10−8 | 1.04 | 3.5 × 10−1 |
| rs164009a | 17 | 71795264 | QRICH2 | PRPSAP1 | A | G | 0.61 | 0.028 | 0.005 | 1.6 × 10−7 | 1.08 | 8.6 × 10−3 |
P values are corrected for inflation using genomic control. Median imputation quality was calculated across all cohorts for urate concentration–associated SNPs in the overall sample and ranged from 0.83 to 1 (median of 0.98). Allele frequencies are presented for the discovery sample. Gout estimates are provided for the combined discovery and validation samples. Sample sizes available for the individual SNPs are listed in Supplementary Table 6. Chr., chromosome; A1, allele 1, effect allele; freq., frequency; s.e., standard error.
These SNPs met one but not both criteria required for replication.
P value < 1 × 10−700.