Table 1. Genome-wide significant associations for PAU.
Chr | Pos (hg19) | rsID | Gene | A1 | A2 | EAF | Z | P | Direction |
---|---|---|---|---|---|---|---|---|---|
1 | 66419905 | rs6421482 | PDE4Ba | A | G | 0.4363 | −6.315 | 2.7×10−10 | ---- |
1 | 73848610 | rs61767420 | [] | A | G | 0.3999 | 5.714 | 1.11×10−8 | ++++ |
2 | 27730940 | rs1260326 | GCKRa | T | C | 0.4033 | −9.296 | 1.45×10−20 | --+- |
2 | 45141180 | rs494904 | SIX3b | T | C | 0.5961 | −7.926 | 2.26×10−15 | ---- |
2 | 58042241 | rs1402398 | VRK2b | A | G | 0.6274 | 7.098 | 1.27×10−12 | ++++ |
2 | 104134432 | rs9679319 | [] | T | G | 0.4797 | −6.01 | 1.86×10−9 | ---- |
2 | 138264231 | rs13382553 | THSD7Ba | A | G | 0.766 | −6.001 | 1.97×10−9 | ---- |
2 | 227164653 | rs2673136 | IRS1b | A | G | 0.6387 | −5.872 | 4.31×10−9 | ---- |
3 | 85513793 | rs62250713 | CADM2a | A | G | 0.368 | 6.049 | 1.46×10−9 | ++++ |
4 | 39404872 | rs13129401 | KLBb | A | G | 0.4532 | −8.906 | 5.29×10−19 | ---- |
4 | 100229016 | rs75967634 | ADH1Ba | T | C | 0.003 | −6.098 | 1.07×10−9 | --?- |
4 | 100239319 | rs1229984 | ADH1Ba | T | C | 0.0302 | −22 | 2.9×10−107 | ---? |
4 | 100270452 | rs13125415 | ADH1Ca | A | G | 0.5849 | −9.073 | 1.16×10−19 | ---- |
4 | 103198082 | rs13135092 | SLC39A8a | A | G | 0.9192 | 11.673 | 1.75×10−31 | ++++ |
7 | 153489074 | rs2533200 | DPP6a | C | G | 0.5163 | −5.631 | 1.79×10−8 | ---- |
8 | 57424874 | rs2582405 | PENKb | T | C | 0.237 | 5.751 | 8.86×10−9 | ++++ |
10 | 72907951 | rs7900002 | UNC5Bb | T | G | 0.6012 | −5.503 | 3.74×10−8 | --+- |
10 | 110537834 | rs56722963 | [] | T | C | 0.2551 | −6.374 | 1.85×10−10 | ---- |
11 | 47423920 | rs10717830 | SLC39A13a | G | GT | 0.674 | 6.422 | 1.34×10−10 | ++++ |
11 | 57480623 | rs576859 | TMX2a | A | C | 0.3272 | 5.67 | 1.43×10−8 | +++? |
11 | 113357710 | rs138084129 | DRD2b | A | AATAT | 0.6274 | 7.824 | 5.13×10−15 | ++++ |
11 | 113443753 | rs6589386 | DRD2b | T | C | 0.4323 | −7.511 | 5.88×10−14 | ---- |
11 | 121542923 | rs1783835 | SORL1b | A | G | 0.4569 | −5.979 | 2.24×10−9 | ---- |
12 | 51903860 | rs12296477 | SLC4A8b | C | G | 0.5469 | 5.484 | 4.15×10−8 | ++++ |
14 | 58765903 | rs61974485 | ARID4Aa | T | C | 0.2646 | 5.506 | 3.67×10−8 | ++++ |
14 | 104355883 | rs8008020 | C14orf2a | T | C | 0.4175 | 6.062 | 1.35×10−9 | ++++ |
16 | 24693048 | rs72768626 | TNRC6Aa | A | G | 0.9448 | 5.591 | 2.26×10−8 | ++++ |
16 | 53820813 | rs9937709 | FTOa | A | G | 0.585 | 6.602 | 4.06×10−11 | ++++ |
19 | 49206417 | rs492602 | FUT2a | A | G | 0.5076 | −6.143 | 8.08×10−10 | ---- |
Listed are the 29 independent variants that were genome-wide significant. Variants labeled in bold are novel associations with PAU. A1, effect allele; A2, other allele; EAF, effective allele frequency. Directions are for the A1 allele in MVP phase1, MVP phase2, PGC, and UKB datasets.
Protein-coding gene contains the lead SNP,
Protein-coding gene nearest to the lead SNP.