Table 2.
Independent SNP Associations with Risk of COA Discovered in the UK Biobank Study (13,962 Affected Individuals versus 300,671 Controls) and Validated in the 23andMe Study (31,759 Affected Individuals versus 214,890 Controls)
Chr | bp | Sentinel SNP | Context | A1 |
Discovery (UK Biobank) |
Replication (23andMe) |
Meta-Analysis |
|||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR | SE | P value | A1 freq | OR | SE | P value | OR | SE | P value | |||||
Sentinel SNPs that Represent Novel Associations for Allergic Disease | ||||||||||||||
1 | 9356676 | rs67551275 | [SPSB1] | T | 1.071 | 0.012 | 1.3E-08 | 0.53 | 1.067 | 0.010 | 5.9E-11 | 1.069 | 0.008 | 3.8E-18 |
1 | 172715702 | rs78037977 | FASLG-[]–TNFSF18 | A | 1.116 | 0.018 | 1.4E-09 | 0.88 | 1.066 | 0.015 | 1.6E-05 | 1.086 | 0.011 | 6.2E-13 |
1 | 213056427 | rs12750027 | [FLVCR1] | A | 1.150 | 0.024 | 3.9E-09 | 0.07 | 1.075 | 0.022 | 1.4E-03 | 1.109 | 0.016 | 2.6E-10 |
2 | 224664050 | rs6755248 | [AP1S3] | G | 1.070 | 0.012 | 1.6E-08 | 0.41 | 1.046 | 0.009 | 1.3E-06 | 1.055 | 0.007 | 3.2E-13 |
2 | 228670437 | rs10187276 | SLC19A3-[]-CCL20 | T | 1.116 | 0.014 | 7.0E-16 | 0.25 | 1.059 | 0.011 | 6.2E-08 | 1.079 | 0.009 | 1.5E-19 |
3 | 127912846 | rs11412402 | [EEFSEC] | D | 1.073 | 0.012 | 3.2E-09 | 0.47 | 1.047 | 0.009 | 4.9E-07 | 1.057 | 0.007 | 3.9E-14 |
3 | 176852038 | rs7626218 | [TBL1XR1] | A | 1.083 | 0.012 | 3.1E-11 | 0.60 | 1.031 | 0.009 | 1.5E-03 | 1.051 | 0.007 | 3.6E-11 |
6 | 409119 | rs9391997 | [IRF4] | G | 1.077 | 0.012 | 3.1E-10 | 0.53 | 1.038 | 0.009 | 5.9E-05 | 1.052 | 0.007 | 3.8E-12 |
7 | 22780322 | rs6954667 | IL6-[]-TOMM7 | A | 1.074 | 0.013 | 2.6E-08 | 0.31 | 1.028 | 0.010 | 6.0E-03 | 1.045 | 0.008 | 3.0E-08 |
8 | 120063542 | rs2450083 | TNFRSF11B-[]-COLEC10 | C | 1.070 | 0.012 | 1.1E-08 | 0.50 | 1.037 | 0.009 | 1.2E-04 | 1.049 | 0.007 | 7.8E-11 |
9 | 23585839 | rs274943 | DMRTA1—[]–ELAVL2 | T | 1.080 | 0.012 | 9.1E-11 | 0.52 | 1.051 | 0.009 | 6.8E-08 | 1.062 | 0.007 | 2.6E-16 |
10 | 6093139 | rs12722502 | [IL2RA] | C | 1.326 | 0.044 | 2.0E-10 | 0.98 | 1.235 | 0.053 | 4.3E-05 | 1.288 | 0.034 | 6.8E-14 |
10 | 6621773 | rs943451 | [PRKCQ] | T | 1.105 | 0.013 | 7.5E-15 | 0.31 | 1.041 | 0.010 | 4.7E-05 | 1.063 | 0.008 | 3.5E-15 |
10 | 94384514 | rs113092121 | [KIF11] | I | 1.092 | 0.012 | 1.8E-13 | 0.56 | 1.058 | 0.009 | 1.8E-09 | 1.070 | 0.007 | 2.5E-20 |
11 | 10664033 | rs2052690 | [MRVI1] | T | 1.077 | 0.013 | 1.5E-08 | 0.29 | 1.043 | 0.010 | 3.2E-05 | 1.056 | 0.008 | 1.1E-11 |
11 | 36365253 | rs10836538 | [PRR5L] | G | 1.083 | 0.012 | 1.2E-10 | 0.65 | 1.040 | 0.010 | 5.4E-05 | 1.057 | 0.007 | 2.7E-13 |
12 | 55368291 | rs62623446 | [TESPA1] | T | 1.138 | 0.023 | 1.7E-08 | 0.07 | 1.103 | 0.021 | 6.2E-06 | 1.119 | 0.016 | 8.0E-13 |
13 | 99974492 | rs1887704 | [UBAC2] | G | 1.102 | 0.013 | 1.4E-14 | 0.68 | 1.059 | 0.010 | 4.8E-09 | 1.075 | 0.008 | 4.7E-20 |
16 | 27349168 | rs3785356 | [IL4R] | T | 1.116 | 0.013 | 2.7E-17 | 0.29 | 1.073 | 0.010 | 2.5E-12 | 1.089 | 0.008 | 8.5E-27 |
16 | 50745926 | rs2066844 | [NOD2] | T | 1.172 | 0.028 | 1.5E-08 | 0.05 | 1.086 | 0.022 | 2.5E-04 | 1.119 | 0.017 | 1.3E-10 |
18 | 48647640 | rs1893380 | SMAD4-[]-MEX3C | C | 1.083 | 0.012 | 5.2E-11 | 0.38 | 1.039 | 0.009 | 5.7E-05 | 1.055 | 0.007 | 3.6E-13 |
18 | 51816408 | rs12965763 | [POLI] | A | 1.100 | 0.014 | 2.3E-11 | 0.22 | 1.034 | 0.011 | 2.3E-03 | 1.059 | 0.009 | 4.3E-11 |
19 | 1152656 | rs892225 | [SBNO2] | G | 1.080 | 0.012 | 3.4E-10 | 0.38 | 1.040 | 0.010 | 9.7E-05 | 1.057 | 0.008 | 1.1E-12 |
X | 13023741 | rs850637 | TMSB4X-[]-FAM9C | G | 1.064 | 0.010 | 2.2E-10 | 0.56 | 1.036 | 0.008 | 3.3E-06 | 1.046 | 0.006 | 8.3E-14 |
X | 49139787 | rs5953283 | [PPP1R3F] | A | 1.064 | 0.010 | 3.1E-10 | 0.40 | 1.024 | 0.008 | 2.2E-03 | 1.038 | 0.006 | 5.6E-10 |
Sentinel SNPs in LD (r2 > 0.05) with Variants Previously Reported to Associate with Allergic Disease | ||||||||||||||
1 | 151801680 | rs4845604 | [RORC] | G | 1.140 | 0.017 | 9.5E-15 | 0.86 | 1.062 | 0.014 | 9.2E-06 | 1.092 | 0.011 | 1.5E-16 |
1 | 152179152 | rs12123821 | RPTN-[]-HRNR | T | 1.523 | 0.028 | 4.0E-51 | 0.05 | 1.163 | 0.025 | 1.1E-09 | 1.307 | 0.018 | 7.6E-48 |
1 | 161185058 | rs2070901 | NDUFS2-[]-FCER1G | T | 1.093 | 0.013 | 2.4E-11 | 0.27 | 1.105 | 0.010 | 4.2E-22 | 1.100 | 0.008 | 2.8E-32 |
1 | 167436270 | rs1617333 | [CD247] | A | 1.098 | 0.012 | 9.9E-15 | 0.60 | 1.061 | 0.009 | 4.3E-10 | 1.075 | 0.007 | 2.5E-22 |
1 | 173131493 | rs10158467 | TNFSF18–[]-TNFSF4 | G | 1.116 | 0.013 | 6.3E-17 | 0.28 | 1.079 | 0.010 | 5.0E-14 | 1.093 | 0.008 | 8.3E-29 |
1 | 203093201 | rs12023876 | MYOG-[]-ADORA1 | G | 1.080 | 0.012 | 7.8E-10 | 0.67 | 1.071 | 0.010 | 4.3E-12 | 1.074 | 0.008 | 4.9E-21 |
2 | 8459404 | rs3856439 | [LINC00299] | C | 1.113 | 0.012 | 6.0E-18 | 0.66 | 1.070 | 0.010 | 7.0E-12 | 1.087 | 0.008 | 6.2E-28 |
2 | 102798245 | rs74180212 | IL1R1-[]-IL1RL2 | G | 1.123 | 0.012 | 1.1E-20 | 0.44 | 1.087 | 0.010 | 1.6E-17 | 1.101 | 0.008 | 5.3E-37 |
2 | 102882352 | rs78545931 | IL1RL2-[]-IL18R1 | A | 1.408 | 0.033 | 4.2E-25 | 0.98 | 1.391 | 0.027 | 5.9E-37 | 1.398 | 0.021 | 8.8E-59 |
2 | 102936159 | rs72823641 | [IL18R1] | T | 1.341 | 0.017 | 6.9E-68 | 0.86 | 1.281 | 0.014 | 5.4E-75 | 1.305 | 0.011 | 2E-136 |
2 | 102966906 | rs1861245 | [IL1RL1] | C | 1.194 | 0.013 | 9.3E-45 | 0.66 | 1.124 | 0.010 | 3.9E-32 | 1.150 | 0.008 | 2.3E-69 |
2 | 112268732 | rs143326447 | BCL2L11–[]–ANAPC1 | C | 1.108 | 0.018 | 1.8E-08 | 0.12 | 1.047 | 0.015 | 2.0E-03 | 1.071 | 0.011 | 1.8E-09 |
2 | 242698640 | rs34290285 | [D2HGDH] | G | 1.198 | 0.013 | 3.3E-41 | 0.74 | 1.142 | 0.012 | 5.5E-29 | 1.168 | 0.009 | 4.2E-69 |
3 | 33047662 | rs35570272 | [GLB1] | T | 1.106 | 0.012 | 7.8E-17 | 0.39 | 1.029 | 0.009 | 2.3E-03 | 1.057 | 0.007 | 4.1E-14 |
3 | 121716171 | rs1806656 | [ILDR1] | C | 1.082 | 0.013 | 6.3E-10 | 0.68 | 1.036 | 0.010 | 6.4E-04 | 1.053 | 0.008 | 1.2E-10 |
3 | 141150026 | rs7625643 | [ZBTB38] | G | 1.070 | 0.012 | 2.1E-08 | 0.44 | 1.029 | 0.009 | 2.7E-03 | 1.044 | 0.007 | 4.9E-09 |
3 | 188128979 | rs9860547 | [LPP] | A | 1.135 | 0.012 | 1.9E-26 | 0.45 | 1.087 | 0.009 | 1.5E-19 | 1.105 | 0.007 | 3.6E-42 |
3 | 188401138 | rs55661102 | [LPP] | A | 1.101 | 0.016 | 9.0E-10 | 0.83 | 1.093 | 0.013 | 2.4E-12 | 1.096 | 0.010 | 4.1E-20 |
4 | 38798648 | rs5743618 | [TLR1] | C | 1.210 | 0.014 | 2.1E-43 | 0.76 | 1.141 | 0.011 | 1.7E-36 | 1.165 | 0.008 | 3.2E-74 |
4 | 123353432 | rs17454584 | ADAD1-[]-IL2 | G | 1.126 | 0.014 | 1.5E-16 | 0.21 | 1.106 | 0.011 | 2.1E-20 | 1.114 | 0.009 | 5.9E-36 |
5 | 14610309 | rs16903574 | [FAM105A] | G | 1.191 | 0.023 | 2.1E-14 | 0.07 | 1.122 | 0.017 | 7.9E-12 | 1.145 | 0.013 | 1.0E-23 |
5 | 110158844 | rs7734635 | SLC25A46-[]–TSLP | G | 1.176 | 0.016 | 3.7E-23 | 0.15 | 1.084 | 0.012 | 1.8E-11 | 1.116 | 0.009 | 1.9E-30 |
5 | 110401872 | rs1837253 | SLC25A46–[]-TSLP | C | 1.182 | 0.013 | 1.2E-35 | 0.74 | 1.189 | 0.011 | 1.6E-59 | 1.186 | 0.008 | 7.1E-94 |
5 | 110470137 | rs6594499 | WDR36-[]-CAMK4 | C | 1.147 | 0.012 | 3.3E-31 | 0.51 | 1.126 | 0.009 | 5.4E-38 | 1.134 | 0.007 | 3.9E-66 |
5 | 131799626 | rs3749833 | [C5orf56] | C | 1.109 | 0.013 | 1.3E-14 | 0.26 | 1.057 | 0.011 | 2.2E-07 | 1.077 | 0.008 | 1.2E-19 |
5 | 131916940 | rs2299012 | [RAD50] | C | 1.191 | 0.015 | 1.9E-31 | 0.19 | 1.115 | 0.011 | 7.6E-23 | 1.141 | 0.009 | 1.0E-49 |
5 | 132105698 | rs113010607 | [SEPT8] | C | 1.172 | 0.022 | 4.1E-13 | 0.07 | 1.101 | 0.017 | 6.1E-09 | 1.126 | 0.013 | 2.0E-19 |
5 | 141533062 | rs449454 | [NDFIP1] | G | 1.084 | 0.012 | 3.0E-11 | 0.62 | 1.070 | 0.010 | 1.1E-12 | 1.076 | 0.007 | 2.0E-22 |
6 | 31303324 | rs114444221 | [HLA-B] | A | 1.231 | 0.027 | 2.3E-14 | 0.97 | 1.095 | 0.017 | 1.2E-07 | 1.133 | 0.015 | 9.0E-18 |
6 | 33033824 | rs111789468 | [HLA-DPA1] | T | 1.222 | 0.030 | 1.3E-11 | 0.03 | 1.069 | 0.013 | 4.1E-07 | 1.092 | 0.012 | 2.2E-13 |
6 | 33099538 | rs3116989 | HLA-DPB2-[]-COL11A2 | G | 1.151 | 0.017 | 5.3E-16 | 0.87 | 1.060 | 0.014 | 3.2E-05 | 1.096 | 0.011 | 2.6E-17 |
6 | 90976609 | rs62408233 | [BACH2] | G | 1.113 | 0.012 | 2.9E-18 | 0.64 | 1.096 | 0.010 | 3.3E-21 | 1.103 | 0.008 | 2.8E-38 |
6 | 106667535 | rs9372120 | [ATG5] | G | 1.106 | 0.015 | 5.5E-12 | 0.21 | 1.078 | 0.011 | 4.2E-11 | 1.088 | 0.009 | 8.8E-21 |
6 | 128293562 | rs55743914 | [PTPRK] | T | 1.105 | 0.014 | 4.8E-13 | 0.24 | 1.051 | 0.011 | 5.0E-06 | 1.071 | 0.009 | 1.5E-15 |
6 | 138002175 | rs6927172 | OLIG3–[]–LOC100130476 | C | 1.090 | 0.014 | 1.4E-09 | 0.78 | 1.051 | 0.011 | 1.1E-05 | 1.067 | 0.009 | 3.3E-13 |
7 | 20423923 | rs149317277 | [ITGB8] | D | 1.087 | 0.012 | 6.6E-12 | 0.61 | 1.050 | 0.009 | 3.0E-07 | 1.064 | 0.007 | 8.4E-17 |
7 | 20544209 | rs12531500 | ITGB8-[]–ABCB5 | A | 1.103 | 0.012 | 1.8E-16 | 0.57 | 1.056 | 0.009 | 5.3E-09 | 1.073 | 0.007 | 6.7E-22 |
7 | 28156606 | rs4722758 | [JAZF1] | G | 1.126 | 0.015 | 6.2E-16 | 0.20 | 1.090 | 0.011 | 6.1E-15 | 1.103 | 0.009 | 2.8E-28 |
8 | 81294702 | rs2221641 | MIR5708–[]–ZBTB10 | C | 1.112 | 0.012 | 2.4E-18 | 0.38 | 1.074 | 0.009 | 2.2E-14 | 1.088 | 0.007 | 1.8E-30 |
8 | 128777719 | rs13277355 | POU5F1B–[]-MYC | A | 1.103 | 0.013 | 1.4E-13 | 0.27 | 1.072 | 0.010 | 7.1E-12 | 1.084 | 0.008 | 9.5E-24 |
9 | 6081804 | rs340934 | RANBP6-[]–IL33 | T | 1.208 | 0.015 | 1.6E-36 | 0.81 | 1.142 | 0.012 | 8.7E-30 | 1.167 | 0.009 | 3.1E-62 |
9 | 6213468 | rs7848215 | RANBP6–[]-IL33 | T | 1.255 | 0.014 | 4.1E-63 | 0.25 | 1.181 | 0.010 | 1.3E-59 | 1.206 | 0.008 | 5E-115 |
10 | 8606014 | rs17144046 | GATA3–[]—SFTA1P | G | 1.102 | 0.013 | 7.0E-13 | 0.28 | 1.044 | 0.010 | 3.3E-05 | 1.066 | 0.008 | 2.9E-15 |
10 | 9049253 | rs12413578 | GATA3—[]—SFTA1P | C | 1.204 | 0.019 | 1.7E-22 | 0.89 | 1.160 | 0.016 | 7.7E-21 | 1.178 | 0.012 | 9.1E-41 |
10 | 9064716 | rs1612986 | GATA3—[]—SFTA1P | C | 1.168 | 0.015 | 4.5E-24 | 0.18 | 1.110 | 0.012 | 8.3E-19 | 1.131 | 0.009 | 8.3E-41 |
10 | 64391375 | rs10995245 | [ZNF365] | A | 1.073 | 0.012 | 1.3E-08 | 0.35 | 1.033 | 0.010 | 9.2E-04 | 1.048 | 0.007 | 3.6E-10 |
11 | 65551957 | rs479844 | AP5B1-[]-OVOL1 | G | 1.116 | 0.012 | 1.4E-20 | 0.55 | 1.052 | 0.009 | 3.9E-08 | 1.075 | 0.007 | 3.2E-23 |
11 | 76299431 | rs55646091 | WNT11–[]-LRRC32 | A | 1.513 | 0.028 | 3.9E-50 | 0.05 | 1.283 | 0.021 | 8.5E-30 | 1.364 | 0.017 | 5.9E-74 |
11 | 76299649 | rs11236797 | WNT11–[]-LRRC32 | A | 1.214 | 0.012 | 2.4E-60 | 0.45 | 1.132 | 0.009 | 1.0E-41 | 1.162 | 0.007 | 1E-93 |
11 | 118743286 | rs12365699 | DDX6-[]-CXCR5 | G | 1.141 | 0.016 | 6.1E-17 | 0.83 | 1.106 | 0.013 | 4.2E-16 | 1.119 | 0.010 | 4.3E-30 |
11 | 128172836 | rs140522418 | KIRREL3-AS3—[]–ETS1 | D | 1.095 | 0.015 | 4.8E-09 | 0.82 | 1.039 | 0.012 | 1.9E-03 | 1.062 | 0.010 | 4.3E-10 |
12 | 56389293 | rs705700 | [RAB5B] | C | 1.108 | 0.012 | 8.1E-18 | 0.42 | 1.060 | 0.009 | 4.3E-10 | 1.078 | 0.007 | 2.5E-24 |
12 | 57509102 | rs3122929 | [STAT6] | T | 1.141 | 0.012 | 7.6E-28 | 0.40 | 1.067 | 0.009 | 5.7E-12 | 1.095 | 0.007 | 2.4E-34 |
12 | 112059557 | rs11065979 | ATXN2-[]-BRAP | C | 1.085 | 0.012 | 6.5E-12 | 0.56 | 1.054 | 0.009 | 1.3E-08 | 1.066 | 0.007 | 4.8E-18 |
12 | 121365431 | rs188074962 | SPPL3-[]-HNF1A-AS1 | G | 1.112 | 0.012 | 8.8E-18 | 0.35 | 1.048 | 0.010 | 1.9E-06 | 1.073 | 0.008 | 1.6E-20 |
12 | 123635096 | rs1716183 | [PITPNM2] | C | 1.098 | 0.016 | 2.2E-09 | 0.83 | 1.049 | 0.013 | 1.2E-04 | 1.067 | 0.010 | 3.5E-11 |
14 | 68754695 | rs1885013 | [RAD51B] | G | 1.098 | 0.013 | 1.0E-12 | 0.28 | 1.078 | 0.010 | 4.4E-14 | 1.085 | 0.008 | 2.9E-25 |
14 | 103244070 | rs71421264 | [TRAF3] | G | 1.081 | 0.012 | 1.0E-10 | 0.59 | 1.032 | 0.009 | 7.2E-04 | 1.050 | 0.007 | 2.8E-11 |
15 | 41787585 | rs1655558 | [ITPKA] | G | 1.087 | 0.012 | 2.8E-12 | 0.55 | 1.056 | 0.010 | 1.7E-08 | 1.068 | 0.007 | 2.2E-18 |
15 | 61069988 | rs11071559 | [RORA] | C | 1.185 | 0.017 | 1.9E-22 | 0.87 | 1.121 | 0.014 | 2.5E-17 | 1.145 | 0.011 | 2.0E-37 |
15 | 67441750 | rs72743461 | [SMAD3] | A | 1.196 | 0.014 | 1.7E-37 | 0.23 | 1.127 | 0.011 | 3.8E-29 | 1.152 | 0.009 | 6.4E-63 |
15 | 67475764 | rs34445740 | [SMAD3] | D | 1.111 | 0.013 | 4.7E-16 | 0.70 | 1.055 | 0.010 | 1.8E-07 | 1.076 | 0.008 | 7.7E-20 |
16 | 11219041 | rs12935657 | [CLEC16A] | G | 1.154 | 0.014 | 6.1E-26 | 0.75 | 1.122 | 0.011 | 1.3E-27 | 1.133 | 0.009 | 1.0E-49 |
17 | 38061439 | rs4795399 | [GSDMB] | T | 1.303 | 0.012 | 3E-111 | 0.53 | 1.280 | 0.009 | 2E-155 | 1.289 | 0.007 | 1E-257 |
17 | 38064971 | rs117097909 | [GSDMB] | A | 1.355 | 0.026 | 1.5E-31 | 0.05 | 1.247 | 0.022 | 3.7E-22 | 1.292 | 0.017 | 1.6E-51 |
17 | 38755021 | rs9893132 | CCR7-[]-SMARCE1 | G | 1.095 | 0.012 | 1.4E-13 | 0.64 | 1.047 | 0.010 | 1.7E-06 | 1.065 | 0.007 | 3.0E-17 |
17 | 38764524 | rs112401631 | CCR7-[]-SMARCE1 | A | 1.354 | 0.043 | 1.6E-12 | 0.02 | 1.265 | 0.044 | 1.9E-07 | 1.310 | 0.031 | 2.1E-18 |
17 | 43457886 | rs9895436 | MAP3K14-[]-ARHGAP27 | A | 1.089 | 0.012 | 1.8E-12 | 0.40 | 1.058 | 0.009 | 1.4E-09 | 1.070 | 0.007 | 5.9E-20 |
17 | 47448346 | rs12952581 | ZNF652-[]-PHB | A | 1.094 | 0.012 | 2.4E-13 | 0.36 | 1.069 | 0.010 | 3.2E-12 | 1.078 | 0.007 | 4.4E-24 |
18 | 60009814 | rs4574025 | [TNFRSF11A] | T | 1.092 | 0.012 | 1.3E-13 | 0.53 | 1.036 | 0.010 | 2.2E-04 | 1.058 | 0.007 | 8.0E-14 |
18 | 61442619 | rs12964116 | [SERPINB7] | G | 1.293 | 0.031 | 3.0E-16 | 0.04 | 1.143 | 0.041 | 1.1E-03 | 1.236 | 0.025 | 8.4E-18 |
19 | 8785744 | rs2918302 | ADAMTS10–[]-ACTL9 | A | 1.107 | 0.016 | 5.8E-10 | 0.15 | 1.037 | 0.013 | 3.5E-03 | 1.064 | 0.010 | 4.8E-10 |
19 | 33726578 | rs117710327 | SLC7A10-[]-CEBPA | C | 1.205 | 0.024 | 4.7E-15 | 0.94 | 1.189 | 0.021 | 1.2E-16 | 1.196 | 0.016 | 2.8E-29 |