From: Performance of gout definitions for genetic epidemiological studies: analysis of UK Biobank
Ā | A1 | A2 | Self-report (nā=ā2066) | ULT use (nā=ā1652) | Hospital diagnosis (nā=ā382) | Winnard [5] definition (nā=ā1861) | Self-report of gout or ULT use (nā=ā2295) |
---|---|---|---|---|---|---|---|
Loci replicated by Kƶttgen | |||||||
ā Rs2231142 (ABCG2) | T | G | 2.10 [2.10ā2.45], 2.38āĆā10ā92 | 2.29 [2.10ā2.50], 4.22āĆā10ā77 | 2.10 [1.76ā2.52], 3.57āĆā10ā16 | 2.18 [2.00ā2.37], 4.47āĆā10ā74 | 2.22 [2.06ā2.40], 1.93āĆā10ā95 |
ā Rs12498742 (SLC2A9) | A | G | 1.80 [1.65ā1.97], 6.14āĆā10ā39 | 1.81 [1.64ā2.00], 4.75āĆā10ā32 | 1.75 [1.43ā2.14], 4.12āĆā10ā8 | 1.79 [1.63ā1.97], 8.22āĆā10ā35 | 1.81 [1.67ā1.97], 1.00āĆā10ā43 |
ā Rs1260326 (GCKR) | T | C | 1.31 [1.23ā1.40], 2.22āĆā10ā17 | 1.26 [1.18ā1.36], 9.30āĆā10ā11 | 1.33 [1.15ā1.53], 0.00010 | 1.26 [1.18ā1.35], 6.47āĆā10ā12 | 1.28 [1.21ā1.36], 4.63āĆā10ā16 |
ā Rs1165151 (SLC17A3) | T | G | 0.83 [0.78ā0.88], 5.36āĆā10ā9 | 0.83 [0.77ā0.89], 1.47āĆā10ā7 | 0.94 [0.81ā1.08], 0.38 | 0.83 [0.77ā0.89], 4.43āĆā10ā8 | 0.82 [0.77ā0.87], 7.87āĆā10ā11 |
ā Rs478607 (SLC22A12) | A | G | 0.79 [0.73ā0.86], 2.32āĆā10ā8 | 0.78 [0.71ā0.85], 5.42āĆā10ā8 | 0.87 [0.71ā1.05], 0.14 | 0.79 [0.73ā0.87], 2.18āĆā10ā7 | 0.79 [0.73ā0.85], 2.00āĆā10ā9 |
ā Rs1471633 (PDZK1) | A | C | 1.18 [1.11ā1.26], 2.60āĆā10ā7 | 1.19 [1.10ā1.28], 2.25āĆā10ā6 | 1.05 [0.91ā1.21], 0.50 | 1.18 [1.10ā1.26], 1.54āĆā10ā6 | 1.17 [1.11ā1.25], 1.86āĆā10ā7 |
ā Rs3741414 (INHBE) | A | G | 0.83 [0.76ā0.89], 9.86āĆā10ā7 | 0.83 [0.76ā0.91], 2.38āĆā10ā5 | 0.80 [0.67ā0.95], 0.013 | 0.844 [0.78ā0.92], 3.96āĆā10ā5 | 0.84 [0.78ā0.90], 2.81āĆā10ā6 |
ā Rs1171614 (SLC16A9) | T | C | 0.82 [0.76ā0.89], 1.11āĆā10ā6 | 0.86 [0.79ā0.94], 0.00053 | 0.88 [0.74ā1.05], 0.15 | 0.87 [0.81ā0.95], 0.0012 | 0.84 [0.78ā0.91], 4.78āĆā10ā6 |
ā Rs2078267 (SLC22A11) | T | C | 0.87 [0.82ā0.93], 1.61āĆā10ā5 | 0.86 [0.80ā0.92], 1.86āĆā10ā5 | 0.85 [0.74ā0.98], 0.026 | 0.87 [0.81ā0.93], 1.97āĆā10ā5 | 0.86 [0.81ā0.91], 5.18āĆā10ā7 |
ā Rs675209 (RREB1) | T | C | 1.10 [1.03ā1.18], 0.0056 | 1.10 [1.02ā1.19], 0.017 | 0.98 [0.83ā1.15], 0.80 | 1.09 [1.01ā1.17], 0.024 | 1.09 [1.02ā1.17], 0.0078 |
Loci reported by Kƶttgen | |||||||
ā Rs11264341 (PKLR) | T | C | 0.88 [0.83ā0.94], 0.00013 | 0.89 [0.83ā0.96], 0.0018 | 0.93 [0.81ā1.08], 0.35 | 0.89 [0.83ā0.95], 0.0004 | 0.87 [0.82ā0.93], 1.18āĆā10ā5 |
ā Rs17050272 (INHBB) | A | G | 1.00 [0.94ā1.07], 0.98 | 0.98 [0.91ā1.05], 0.51 | 1.13 [0.97ā1.30], 0.11 | 1.00 [0.93ā1.07], 0.96 | 1.00 [0.94ā1.06], 0.90 |
ā Rs2307394 (ACVR2A) | T | C | 0.97 [0.91ā1.04], 0.40 | 1.00 [0.92ā1.08], 0.96 | 0.96 [0.82ā1.12], 0.57 | 0.97 [0.91ā1.05], 0.47 | 0.97 [0.91ā1.04], 0.39 |
ā Rs6770152 (MUSTN1) | T | G | 0.91 [0.85ā0.97], 0.0042 | 0.93 [0.86ā1.00], 0.04 | 0.93 [0.80ā1.07], 0.31 | 0.92 [0.86ā0.98], 0.015 | 0.91 [0.85ā0.96], 0.0015 |
ā Rs17632159 (TMEM171) | C | G | 0.91 [0.85ā0.98], 0.010 | 0.91 [0.84ā0.99], 0.025 | 0.92 [0.79ā1.08], 0.32 | 0.92 [0.85ā0.99], 0.025 | 0.91 [0.85ā0.97], 0.0064 |
ā Rs729761 (VEGFA) | T | G | 0.95 [0.89ā1.02], 0.19 | 0.93 [0.86ā1.01], 0.079 | 1.04 [0.88ā1.22], 0.67 | 0.94 [0.87ā1.01], 0.10 | 0.96 [0.89ā1.03], 0.21 |
ā Rs1178977 (MLXIPL) | A | G | 1.19 [1.10ā1.30], 3.49āĆā10ā5 | 1.14 [1.04ā1.25], 0.0066 | 1.02 [0.85ā1.22], 0.81 | 1.15 [1.05ā1.25], 0.0020 | 1.18 [1.09ā1.28], 3.79āĆā10ā5 |
ā Rs10480300 (PRKAG2) | T | C | 1.08 [1.01ā1.16], 0.026 | 1.09 [1.01ā1.18], 0.032 | 1.05 [0.89ā1.23], 0.57 | 1.06 [0.99ā1.14], 0.119 | 1.08 [1.01ā1.15], 0.028 |
ā Rs17786744 (STC1) | A | G | 0.98 [0.92ā1.05], 0.53 | 1.01 [0.94ā1.08], 0.86 | 0.95 [0.82ā0.10], 0.49 | 0.99 [0.93ā1.06], 0.82 | 1.00 [0.94ā1.06], 0.99 |
ā Rs2941484 (HNF4G) | T | C | 1.07 [1.00ā1.14], 0.037 | 1.09 [1.01ā1.17], 0.023 | 0.91 [0.78ā1.06], 0.22 | 1.08 [1.00ā1.15], 0.040 | 1.07 [1.01ā1.14], 0.029 |
ā Rs10821905 (ASAH2) | A | G | 1.12 [1.04ā1.22], 0.0049 | 1.08 [0.99ā1.18], 0.10 | 0.97 [0.80ā1.17], 0.73 | 1.09 [1.00ā1.19], 0.051 | 1.11 [1.03ā1.20], 0.0080 |
ā Rs642803 (LTBP3) | T | C | 0.92 [0.86ā0.98], 0.011 | 0.92 [0.85ā0.98], 0.016 | 0.90 [0.78ā1.04], 0.16 | 0.90 [0.84ā0.96], 0.0025 | 0.92 [0.87ā0.89], 0.0090 |
ā Rs653178 (PTPN11) | T | C | 0.89 [0.83ā0.94], 0.00015 | 0.87 [0.81ā0.93], 0.00012 | 0.92 [0.79ā1.06], 0.24 | 0.89 [0.83ā0.95], 0.00061 | 0.88 [0.83ā0.93], 3.11āĆā10ā5 |
ā Rs1394125 (NRG4) | A | G | 1.08 [1.01ā1.15], 0.026 | 1.05 [0.98ā1.30], 0.19 | 1.11 [0.96ā1.29], 0.17 | 1.07 [0.99ā1.14], 0.074 | 1.07 [1.01ā1.14], 0.027 |
ā Rs6598541 (IGF1R) | A | G | 1.07 [1.00ā1.40], 0.059 | 1.01 [0.94ā1.09], 0.78 | 0.98 [0.84ā1.14], 0.75 | 1.02 [0.95ā1.10], 0.55 | 1.05 [0.99ā1.12], 0.12 |
ā Rs7193778 (NFAT5) | T | C | 0.90 [0.83ā0.98], 0.021 | 0.96 [0.87ā1.06], 0.43 | 0.88 [0.72ā1.07], 0.19 | 0.95 [0.86ā1.04], 0.25 | 0.90 [0.83ā0.97], 0.0087 |
ā Rs7188445 (MAF) | A | G | 0.99 [0.93ā1.06], 0.87 | 1.01 [0.94ā1.09], 0.82 | 0.96 [0.82ā1.11], 0.56 | 1.00 [0.93ā1.07], 0.95 | 1.00 [0.94ā1.06], 0.94 |
ā Rs7224610 (HLF) | A | C | 0.93 [0.87ā0.99], 0.022 | 0.92 [0.85ā0.99], 0.022 | 0.95 [0.82ā1.10], 0.51 | 0.94 [0.87ā1.00], 0.058 | 0.92 [0.86ā0.98], 0.0061 |
ā Rs2079742 (C17ORF82) | T | C | 1.07 [0.97ā1.17], 0.18 | 1.09 [0.97ā1.21], 0.14 | 1.07 [0.86ā1.33], 0.54 | 1.08 [0.98ā1.20], 0.13 | 1.06 [0.97ā1.16], 0.23 |
ā Rs164009 (PRPSAP1) | A | G | 1.03 [0.96ā1.09], 0.45 | 1.01 [0.94ā1.09], 0.83 | 1.06 [0.91ā1.23], 0.45 | 1.01 [0.94ā1.08], 0.80 | 1.02 [0.96ā1.09], 0.47 |
Number of loci associated with gout at genome wide significance | Ā | Ā | 5 | 3 | 2 | 4 | 5 |
Number of loci associated with gout at experiment wide significance | Ā | Ā | 12 | 10 | 3 | 11 | 13 |