Table 1 Cataract loci identified in the combined (GERA + UKB) GWAS multiethnic meta-analysis and replication in 23andMe research cohort.
From: A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects
Combined Meta-Analysis | Replication in 23andMe | Direction of Effect (GERA-UKB-23andMe) | |||||||
|---|---|---|---|---|---|---|---|---|---|
SNP | Chr | Pos | Locus | Alleles A1/A2 | OR (SE) | P | OR (SE) | P | |
rs2073017 | 1 | 10822808 | CASZ1 | C/T | 0.95 (0.0081) | 1.21E−10 | 0.98 (0.0042) | 1.40E−06 | −−− |
rs3176459 | 1 | 51437247 | CDKN2C | G/A | 0.95 (0.007) | 1.63E−12 | 0.98 (0.0036) | 7.71E−10 | −−− |
rs71646944 | 1 | 82151352 | ADGRL2 | T/C | 1.05 (0.0087) | 1.26E−09 | 1.04 (0.0045) | 5.60E−18 | +++ |
rs10633030 | 1 | 118160005 | FAM46C | CT/C | 1.05 (0.0081) | 1.48E−08 | 1.03 (0.0041) | 2.56E−11 | +++ |
rs4745 | 1 | 155106227 | DPM3-KRTCAP2 | T/A | 0.96 (0.0066) | 3.26E−09 | 1.01 (0.0207) | 0.66 | −-+ |
rs2982459 | 1 | 169028716 | LINC00970 | G/A | 0.96 (0.0071) | 7.76E−09 | 0.97 (0.0037) | 1.58E−12 | −−− |
rs12593 | 1 | 227172290 | ADCK3 | T/C | 1.06 (0.0067) | 2.41E−16 | 1.04 (0.0035) | 2.16E−33 | +++ |
rs890069 | 2 | 12867504 | Near TRIB2 | T/C | 0.96 (0.0069) | 1.03E−08 | 0.98 (0.0035) | 1.45E−8 | −−− |
rs10210444 | 2 | 28859979 | PLB1 | A/G | 1.05 (0.0084) | 1.09E−09 | 1.04 (0.0043) | 1.49E−19 | +++ |
rs7604689 | 2 | 143577407 | LRP1B-KYNU | C/T | 0.95 (0.0082) | 6.74E−11 | 0.97 (0.0043) | 5.88E−14 | −−− |
rs140625707 | 2 | 218529842 | DIRC3 | C/CT | 1.08 (0.0132) | 1.35E−09 | 1.06 (0.007) | 2.52E−18 | +++ |
rs62237590 | 3 | 25437648 | RARB | C/A | 1.05 (0.0086) | 5.37E−09 | 1.02 (0.0047) | 4.61E−07 | +++ |
rs35173917 | 3 | 52760984 | NT5DC2 | C/CT | 0.94 (0.0086) | 5.49E−13 | NA | NA | –-NA |
rs35256080 | 3 | 63823014 | ATXN7 | AT/A | 1.05 (0.0069) | 8.25E−12 | 1.02 (0.0035) | 3.05E−08 | +++ |
rs10663094 | 3 | 181363464 | SOX2-OT | ACT/A | 1.08 (0.0068) | 7.30E−31 | 1.05 (0.0038) | 2.22E−32 | +++ |
rs73238577 | 4 | 39403760 | Near KLB | C/T | 1.08 (0.0137) | 4.52E−09 | 1.02 (0.0076) | 0.01486 | +++ |
rs72868578 | 4 | 81951344 | C4orf22-BMP3 | A/C | 1.12 (0.017) | 4.44E−11 | 1.07 (0.0091) | 3.08E−12 | +++ |
rs1539508 | 6 | 43868986 | LOC100132354 | G/A | 0.96 (0.007) | 3.00E−08 | 0.98 (0.0119) | 0.15 | −−− |
rs7744813 | 6 | 73643289 | KCNQ5 | A/C | 1.04 (0.0067) | 3.68E−09 | 1.02 (0.0035) | 4.38E−10 | +++ |
rs73015318 | 6 | 163853539 | QKI | A/C | 1.07 (0.0089) | 1.43E−12 | 1.05 (0.0047) | 8.70E−24 | +++ |
rs10258092 | 7 | 28547607 | CREB5 | C/T | 1.05 (0.009) | 3.27E−08 | 1.03 (0.0047) | 1.50E−08 | +++ |
rs17172647 | 7 | 46214253 | IGFBP3-TNS3 | G/A | 1.09 (0.0074) | 4.22E−29 | 1.07 (0.0038) | 5.37E−76 | +++ |
rs62621812 | 7 | 127015083 | ZNF800 | A/G | 1.22 (0.0237) | 4.93E−17 | 1.12 (0.0119) | 4.86E−22 | +++ |
rs12114462 | 8 | 22539641 | BIN3-EGR3 | C/T | 1.04 (0.007) | 4.62E−08 | 1.02 (0.0044) | 2.45E−06 | +++ |
rs370102919 | 8 | 103676072 | KLF10-AZIN1 | G/GAA | 0.96 (0.0068) | 4.72E−09 | NA | NA | –-NA |
rs1679013 | 9 | 22206987 | CDKN2B-DMRTA1 | T/C | 1.07 (0.0071) | 1.07E−20 | 1.03 (0.0035) | 1.29E−13 | +++ |
rs62547244 | 9 | 92050323 | SEMA4D | T/C | 1.04 (0.0076) | 1.08E−08 | 1.01 (0.004) | 0.082 | +++ |
rs4742654 | 9 | 108409041 | FKTN-TAL2 | T/G | 1.04 (0.0073) | 5.12E−09 | 1.02 (0.0038) | 7.03E−05 | +++ |
rs4837205 | 9 | 130681892 | ST6GALNAC4-PIP5KL1 | C/T | 0.95 (0.0094) | 2.97E−08 | 0.98 (0.0050) | 1.10E−04 | −−− |
rs1014607 | 10 | 29024130 | BAMBI-LINC01517 | A/G | 0.95 (0.0073) | 7.80E−11 | 0.96 (0.0039) | 2.21E−21 | −−− |
rs2274224 | 10 | 96039597 | PLCE1 | C/G | 1.04 (0.0066) | 1.84E−08 | 1.03 (0.0034) | 5.74E−24 | +++ |
rs779436795 | 10 | 101647971 | DNMBP | GTTTGTTT TTGTT/G | 1.04 (0.0066) | 1.57E−09 | NA | NA | ++NA |
rs73386631 | 11 | 202017 | ODF3-BET1L | T/C | 1.13 (0.0155) | 2.81E−14 | 1.06 (0.0086) | 3.59E−11 | +++ |
rs150648223 | 11 | 68942162 | 5′ LOC338694 | ATTT/A | 1.17 (0.0109) | 1.12E−44 | 1.1 (0.0059) | 7.32E−60 | +++ |
rs17739338 | 12 | 30884092 | CAPRIN2 | T/C | 0.91 (0.0126) | 2.63E−13 | 0.94 (0.0063) | 2.64E−22 | −−− |
rs1038196 | 12 | 66343400 | HMGA2 | C/G | 0.96 (0.0066) | 1.21E−08 | 0.99 (0.0034) | 0.001763 | −−− |
rs17608087 | 12 | 110044342 | MVK-FAM222A | G/A | 1.07 (0.0124) | 1.70E−08 | 1.05 (0.0067) | 1.36E−11 | +++ |
rs7154613 | 14 | 25472083 | STXBP6 | T/C | 1.06 (0.0097) | 1.42E−08 | 1.03 (0.0051) | 1.01E−06 | +++ |
rs2855530 | 14 | 54421917 | BMP4 | C/G | 1.04 (0.0066) | 1.02E−08 | 1.03 (0.0034) | 7.01E−17 | +++ |
rs72714121 | 15 | 28334889 | OCA2 | T/G | 1.1 (0.0118) | 9.32E−16 | 1.05 (0.0063) | 3.47E−17 | +++ |
rs12901945 | 15 | 61802203 | RORA-VPS13C | A/G | 1.05 (0.0067) | 1.91E−12 | 1.02 (0.0035) | 8.38E−08 | +++ |
rs10500355 | 16 | 7459347 | RBFOX1 | A/T | 1.05 (0.0069) | 5.47E−12 | 1.04 (0.0036) | 6.33E−26 | +++ |
rs73530148 | 16 | 30070540 | ALDOA | T/C | 1.08 (0.0133) | 2.57E−09 | 1.04 (0.0069) | 5.02E−07 | +++ |
rs73568154 | 16 | 69884306 | WWP2 | A/T | 1.05 (0.0066) | 5.38E−15 | 1.02 (0.0034) | 8.71E−09 | +++ |
rs11150202 | 16 | 79835003 | LINC01229 | A/G | 1.04 (0.0076) | 9.63E−09 | 1.00 (0.0038) | 0.63 | +++ |
rs8074331 | 17 | 30571412 | RHOT1 - RHBDL3 | A/T | 0.96 (0.0073) | 3.11E−08 | 0.98 (0.0038) | 7.06E−10 | −−− |
rs7207025 | 17 | 41520200 | near MIR2117HG | A/G | 0.96 (0.0071) | 1.75E−08 | 0.98 (0.0036) | 8.36E−10 | −−− |
rs9038 | 17 | 75495397 | SEPT9 | C/T | 0.96 (0.0069) | 8.28E−09 | 0.96 (0.0035) | 8.90E−28 | −−− |
rs9895741 | 17 | 79603831 | NPLOC4 | G/A | 0.93 (0.0084) | 1.20E−17 | 0.95 (0.0037) | 1.48E−42 | −−− |
rs75954926 | 17 | 81061048 | 3′ METRNL | G/A | 1.07 (0.0084) | 2.61E−15 | 1.03 (0.0041) | 4.23E−13 | +++ |
rs61744414 | 19 | 17100550 | CPAMD8 | T/A | 1.15 (0.0256) | 3.47E−08 | 1.1 (0.0135) | 5.02E−13 | +++ |
rs549768142 | 20 | 10649677 | JAG1 | GAAAAAAAAAAT/G | 0.94 (0.0087) | 3.19E−14 | 0.96 (0.0045) | 3.34E−17 | −−− |
rs4814857 | 20 | 19457268 | SLC24A3 | G/A | 1.16 (0.0088) | 1.84E−61 | 1.09 (0.0047) | 1.58E−70 | +++ |
rs35089120 | 22 | 30531101 | HORMAD2 | C/CAT | 1.05 (0.0089) | 1.47E−08 | 1.03 (0.0047) | 9.62E−13 | +++ |
