Table 2.
Meta-analysis results for newly identified genome-wide significant endometrial cancer risk loci
| Region | SNP | Position (bp)a | Nearby or candidate gene(s)b | Effect: other alleles | EAF | Info | All histologies (12,906 cases; 108,979 controls) | Endometrioid histology (8758 cases; 46,126 controls) | Non-endometrioid histologies (1230 cases; 35,447 controls) | Between histologies | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Allelic OR (95% CI) | P | I 2 | BFDP (%) | Allelic OR (95% CI) | P | I 2 | Allelic OR (95% CI) | P | I 2 | P | |||||||
| 1p34.3 | rs113998067 | 37,607,755 | GNL2, RSPO1, CDCA8 | C:T | 0.04 | 0.90 | 1.23 (1.14, 1.32) | 3.6E−08 | 20% | 2% | 1.27 (1.17, 1.38) | 2.6E−08 | 33% | 1.21 (0.98, 1.50) | 7.0E−02 | 0% | 0.99 |
| 2p16.1 | rs148261157 | 60,670,444 | BCL11A | A:G | 0.03 | 0.88 | 1.26 (1.16, 1.36) | 3.4E−08 | 16% | 2% | 1.25 (1.14, 1.38) | 4.7E−06 | 21% | 1.64 (1.32, 2.04) | 9.6E−06 | 0% | 0.0026 |
| 9p21.3 | rs1679014 | 22,207,038 | CDKN2A, CDKN2B | T:C | 0.07 | G | 1.18 (1.12, 1.25) | 6.4E−09 | 0% | <1% | 1.17 (1.09, 1.25) | 4.4E−06 | 0% | 1.19 (1.02, 1.38) | 3.0E−02 | 6% | 0.14 |
| 11p13 | rs10835920 | 32,468,118 | WT1, WT1-AS, RCN1, CCDC73, EIF3M, TCP11L1 | T:C | 0.38 | 0.99 | 1.09 (1.06, 1.13) | 1.3E−08 | 0% | 1% | 1.10 (1.05, 1.14) | 2.1E−06 | 0% | 1.10 (1.01, 1.20) | 3.8E−02 | 15% | 0.68 |
| 12p12.1 | rs9668337 | 26,273,405 | SSPN | A:G | 0.74 | 0.99 | 1.11 (1.08, 1.15) | 1.1E−09 | 0% | <1% | 1.10 (1.06, 1.15) | 2.6E−06 | 0% | 1.10 (1.00, 1.22) | 5.1E−02 | 0% | 0.88 |
| 12q24.11 | rs3184504 | 111,446,804 | SH2B3 | C:T | 0.52 | G | 1.10 (1.07, 1.14) | 1.1E−10 | 0% | <1% | 1.11 (1.07, 1.15) | 5.8E−09 | 0% | 1.10 (1.01, 1.19) | 3.2E−02 | 4% | 0.79 |
| 12q24.21 | rs10850382 | 114,776,743 | LOC107984437 | T:C | 0.31 | G | 1.10 (1.07, 1.14) | 3.5E−09 | 0% | <1% | 1.11 (1.07, 1.15) | 1.5E−07 | 0% | 1.02 (0.93, 1.12) | 6.7E−01 | 0% | 0.16 |
| 17q11.2 | rs1129506 | 31,319,014 | EVI2A, NF1, SUZ12, RP11-848P1.5 | G:A | 0.38 | G | 1.10 (1.06, 1.13) | 4.3E−08 | 0% | 4% | 1.11 (1.07, 1.15) | 1.3E−07 | 36% | 1.07 (0.98, 1.17) | 1.3E−01 | 13% | 0.27 |
| 17q21.32 | rs882380 | 48,216,874 | SKAP1, SNX11 | A:C | 0.61 | 0.99 | 1.10 (1.06, 1.13) | 4.7E−09 | 41% | <1% | 1.11 (1.07, 1.15) | 1.2E−08 | 34% | 1.08 (0.99, 1.18) | 7.6E−02 | 0% | 0.62 |
EAF: effect allele frequency among control subjects in the UK Biobank, Info: imputation quality score for the OncoArray set, G: genotyped SNPs, I2: heterogeneity I2 statistic, BFDP: Bayes false discovery probability46
aPosition is with reference to build 38 of the reference genome
bBolded genes are candidate genes identified from eQTL analysis