Table 1: A complete list of gout-associated genes and genetic loci.

Variant Location Effect allele OR P value Population Reference
Discovery Replication
rs121907892 (W258X) Exon G infinity 2×10-2 Japanese male Japanese male [35, 36]
rs121907896 (R90H) Exon G     Japanese male [36]
rs11231825 (H142H) Exon T 1.631 3.26×10-2 Spanish [37]
rs475688 Intron C 1.84 1×10-4 Han Chinese and Solomon Islanders [38]
T 1.26 4.3×10-2 New Zealand European Caucasian [39]
    No association New Zealand Polynesian [39]
rs505802 5’ intergenic A 0.747 9.88 ×10-4 Han Chinese male [40]
    No association German [41]
rs2285340 Intron A 1.4 4.61×10-11 Japanese male [2]
    No association New Zealand Polynesian [2]
rs734553 Intron G 0.66 5.6×10-7 German Han Chinese male [40, 41]
rs16890979 (V253I) Exon T 0.59 7.9×10 -14 US Caucasian New Zealand Māori, Pacific Island, Caucasian, Spanish, Chinese [57-59]
    No association   Korean, Japanese men, Han Chinese male, Czech [60-63]
rs1014290 Intron C 1.4 1×10-4 Scottish Japanese male, Han Chinese [64, 2, 61, 65, 35]
    No association Solomon Islanders [65]
rs6449213 Intron T 1.32 3×10 -2 Scottish German, US Caucasian [64, 66, 57]
    No association Korean [60]
rs3733591 (R265H) Exon G 1.52 7.3×10-4 Japanese male Han Chinese [61, 65]
    No association Solomon Islanders, New Zealander, Chinese Han and Minnan population in China [65, 67, 68, 69]
rs6855911 Intron G 0.62 3.2×10-7 German German [66, 41]
    No association Minnan population in China [69]
rs12510549 5’ intergenic C 0.67 5.1×10-5 German New Zealand Caucasian [66, 58]
    No association New Zealand Māori,pacific Island [58]
rs11722228 Intron T 1.619 2.4×10-6 Han Chinese male [62]
    No association Malaysian male [70]
rs3775948 Intron G 1.61 5.5×10-27 Japanese male [71]
G 0.738 3.09 ×10-3 Han Chinese male [62]
rs13129697 Intron T 1.4 4.66 × 10-3 African American [72]
rs7663032 Intron T 1.46 3.97 × 10-3 African American [72]
rs5028843 Intron A 0.13 7.2 × 10-5 New Zealand Māori New Zealand, Caucasian [58]
rs11942223 Intron C 0.06 3.7 × 10-7 New Zealand Māori New Zealand, Caucasian [58]
rs13124007 promoter C 1.709 6×10-3 Chinese male [74]
rs17300741 Intron A 1.85 2×10-2 Spanish [37]
G 1.63 4.9×10-2 Japanese [76]
    No association New Zealander, German, Chinese Han, Japanese male [39, 41, 68, 40, 35]
rs3579352 Intron C 0.71 1.08×10-3 Chinese [59]
rs1183201 Intron T 0.67 3× 10-6 Caucasian Han Chinese male [80, 40]
    No association German [41]
rs1165196 (I269T) Exon C 0.6 5.5×10-3 Japanese male Caucasian, Spanish, Japanese male [81, 80, 37, 35]
    No association   Chinese Han [68]
rs1179086 Intron T 0.69 1.2×10-2 Japanese male [81]
rs3757131 Intron T 0.6 5.9×10-3 Japanese male [81]
rs12664474 5’ UTR G 1.36 1.2 × 10-3 Caucasian [80]
    No association Polynesian [80]
rs1165205 Intron A 0.85 2·0×10 -3 White American [57]
    No association Chinese Han and Minnan population [68, 69]
rs9358890 Exon G 1.19 1.8×10-2 Chinese [59]
    No association Caucasian, Polynesian [80]
rs2242206 (K258T) Exon G 1.28 1.2×10-2 Japanese male [86]
rs2231137 (V12M) Exon T 0.55 2.55×10-6 Chinese Han male Chinese [91, 59, 92]
rs1481012 Intron G 2.5 1.55×10-43 Chinese [59]
rs3114018 Intron A 1.71 2.6×10-2 Chinese Han Chinese [93, 92]
rs2728125   C 2.05 1.5×10-27 Japanese male [71]
rs72552713 (Q126X) Exon T 4.25 3.04 × 10-8 Japanese male Chinese and Japanese male [94, 91, 35, 95]
rs3114020 promoter T 1.58 4.8×10-2 Chinese Han [93]
C 2.03 1.17×10-20 Japanese male [2]
rs2231142 (Q141K) Exon T 1.74 3.3×10-15 White American Japanese, Spanish, German, Korean, Chinese, American, New Zealand Pacific Island and Caucasian [57, 35, 37, 41, 60, 68, 69, 71, 72, 88, 91, 92, 94-98]
    No association New Zealand Māori , Chinese Han [97, 93]
rs4148500 Intron A 1.3 3.8×10-3 New Zealand Māori and Pacific Island [104]
rs179785 Intron G 0.82 1.28 × 10-8 Han Chinese male [107]
rs1967017 promoter C 0.705 1.6×10-2 male Han Chinese New Zealander, American [109, 110, 111]
    No association American [112]
rs12129861 5’ Intergenic A 0.727 1.5×10-2 male Han Chinese Japanese [109, 113]
    No association Japanese and Chinese male, German [35, 40, 41, 114]
rs11733284 Intron A 1.34 1.13×10-8 Japanese male [2]
rs1143623 Promoter G 1.1 2×10-2 European and Polynesian [118]
rs2569190 Promoter A 1.08 3.6×10-2 European and Polynesian [118]
rs4073 (–251T/A ) promoter T 1.229 3.1×10-2 Chinese male Chinese [121, 122]
rs3212227 (1188A/C ) 3’ UTR A 1.404 < 1×10-3 Chinese male [121]
rs7517847 Intron G 0.826 4×10-2 Chinese Han male [127]
rs10889677 3’ UTR A 1.137 5.9×10-2 Chinese Han male [128]
rs1800630 (-863C/A ) promoter A 2.3 <1×10-3 male Taiwanese [130]
rs1024611 (-2518A/G) promoter G 1.182 7×10-3 Chinese male [131]
rs3806268 Exon G 1.83 <3×10-2 Chinese [135]
rs45520937 Exon A 1.85 6.66×10 -9 Han Chinese [137]
rs2143956 Exon T 1.48 3.58× 10 -5 Chinese male [140]
T 1.122 1.2×10-2 European [141]
T 0.8 1.1×10-2 NZ Polynesian [141]
rs2043211 (C10X) Exon T 1.12 7×10-3 European [118]
    No association NZ Polynesian, Chinese male, Korean male [118, 144, 145]
rs1653624 Exon A 1.608 2×10-2 Chinese [147]
rs7958316 Exon A 1.698 8×10-3 Chinese [147]
rs17525809 Exon T 2.728 0.000 Chinese [147]
rs2298999 Intron T 0.77 6.42×10-3 male Chinese Han [153]
rs10821905 5’ UTR A 1.61 1.57×10-3 Chinese [59]
rs2941484 3’ UTR T 1.28 1.08×10-3 Chinese [59]
rs4971101 3’ UTR G 1.37 3.25×10-4 Chinese [59]
rs2070803 3’ UTR A 1.22 3.1×10-2 Chinese [59]
rs2544390 Intron T 1.32 2.5×10-2 Japanese male Chinese, New Zealander [35, 155, 156]
T 0.79 2×10-2 European [156]
    No association Japanese male [157]
rs780093 Intron T 1.17 4.7×10-4 American Han Chinese male [112, 160]
rs1260326 (L446P) Exon T 1.36 1.9×10-12 Japanese male Japanese male, Chinese [71, 2, 62, 59]
rs6547692 Intron A 0.696 2.20×10-4 Han Chinese male [62]
rs780094 Intron A 1.518 4.00×10-4 Han Chinese male Chinese, Japanese male [160, 40, 59, 35]
    No association German [41]
rs4994 (W64R) Exon C 1.5 1.30×10-2 Chinese male [162]
    No association combined Polynesian [163]
rs671 (E504K) Exon G 1.88 1.70×10 -18 Japanese male Japanese and Han Chinese male [164, 165, 62, 166]
rs1229984 (H48R) Exon A 1.16 3.70×10-2 Japanese male [165]
rs4680 (V158M) Exon A 0.77 1.50×10-2 Chinese [155]
    No association Taiwanese aborigines [170]
rs1137070 (D470D) Exon T 1.46 2.00× 10 -4 Taiwanese aborigines [170]
rs2283725 Intron A 1.38 6.00× 10 -4 Taiwanese aborigines [170]
rs5953210 5’ Intergenic G 1.34 1.00× 10 -3 Taiwanese aborigines [170]
rs7688672 Intron A 1.96 7.00×10-3 Taiwanese [172]
    No association Chinese male [173]
rs10033237 Intron G 1.302 8×10-3 Chinese male [173]
    No association Taiwanese [172]
rs3756230 Intron C 0.64 1.3×10-2 Han Chinese [176]
rs12498927 Intron A 1.377 2.7×10-2 Han Chinese [176]
rs11726117 (M861T) Exon C 1.44 3.78×10-6 Taiwan aborigines Taiwanese Han [178]
    No association male Japanese [179]
rs231247 (R1084R) Exon G 1.46 2×10-6 Taiwan aborigines Taiwanese Han [178]
rs231253 3’ UTR G 1.45 3.48×10-6 Taiwan aborigines [178]
    No association Taiwanese Han [178]
rs742132 Intron A 1.3 1.5×10-2 Japanese male Japanese male [180, 181]
    No association German, Han Chinese [41, 40]
rs12236871 5’ UTR G 0.81 1.48 ×10-10 Han Chinese male [107]
rs9895661 Intron C 0.594 6.94×10-7 Han Chinese male [62]
rs9905274 Intron T 0.79 6.45 × 10-13 Han Chinese male [107]
rs11653176 Intron T 0.79 1.36 × 10-13 Han Chinese male [107]
rs4073582 Intron G 1.66 6.4×10 -9 Japanese male Japanese and Han Chinese male [71, 2, 62]
rs7903456 Intron A 1.34 4.29×10-8 Japanese male [2]
rs2188380 intergenic T 1.75 1.6×10 -23 Japanese male [71]
rs4766566 Intron T 1.51 4.03 × 10 -20 Japanese male [2]

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