Table 1.
Summary of genome-wide significant loci associated with endometriosis identified in recent GWAS meta-analyses
| Chr | SNP | BP | RA | OR (95% CI) | p value | Associated gene/cytoband |
|---|---|---|---|---|---|---|
| Previously reported loci | ||||||
| 1 | rs12037376 | 22462111 | A | 1.16 (1.12–1.19) | 8.87 × 10−17 | WNT4/1p36.12 |
| 2 | rs11674184 | 11721535 | T | 1.13 (1.10–1.15) | 2.67 × 10−17 | GREB1/2p25.1 |
| 2 | rs10167914 | 113563361 | G | 1.12 (1.08–1.15) | 1.10 × 10−9 | IL1A/2q13 |
| 2 | rs6546324 | 67856490 | A | 1.08 (1.05–1.11) | 3.01 × 10−8 | ETAA1/2p14 |
| 4 | rs1903068 | 56008477 | A | 1.11 (1.07–1.13) | 1.04 × 10−11 | KDR/4q12 |
| 6 | rs760794 | 19790560 | T | 1.09 (1.06–1.12) | 1.79 × 10−10 | ID4/6p22.3 |
| 7 | rs12700667 | 25901639 | A | 1.10 (1.07–1.13) | 9.08 × 10−10 | 7p15.2 |
| 9 | rs1537377 | 22169700 | C | 1.09 (1.06–1.12) | 1.33 × 10−10 | CDKN2B-AS1/9p21.3 |
| 12 | rs4762326 | 95668951 | T | 1.08 (1.05–1.11) | 2.20 × 10−9 | VEZT/12q22 |
| 2 | rs1250241 | 216295312 | T | 1.06 (1.03–1.09) | 6.20 × 10−5 | FN1/2q35 |
| 6 | rs1971256 | 151816011 | C | 1.09 (1.06–1.13) | 3.74 × 10−8 | CCDC170/6q25.1 |
| 6 | rs71575922 | 152554014 | G | 1.11 (1.07–1.15) | 2.02 × 10−8 | SYNE1/6q25.1 |
| 7 | rs74491657 | 46947633 | G | 1.08 (1.03–1.13) | 1.23 × 10−3 | 7p12.3 |
| 11 | rs74485684 | 30242287 | T | 1.11 (1.07–1.15) | 2.00 × 10−8 | FSHB/11p14.1 |
| Novel loci | ||||||
| 1 | rs12030576 | 115817221 | G | 1.07 (1.05–1.09) | 5.2 × 10−13 | NGF/1p13.2 |
| 1 | rs1209731 | 169324793 | C | 1.19 (1.12–1.26) | 2.0 × 10−8 | ATP1B1-F5/1q24.2 |
| 1 | rs1894692 | 169467654 | A | 1.18 (1.13–1.24) | 2.88 × 10−13 | SLC19A2/1q24.2 |
| 1 | rs495590 | 172152202 | G | 1.07 (1.05–1.10) | 6.73 × 10−10 | DNM3/1q24.3 |
| 4 | rs2510770 | 95479372 | A | 1.05 (1.03–1.06) | 8.25 × 10−10 | PDLIM5/4q22.3 |
| 5 | rs13177597 | 82052282 | G | 1.06 (1.04–1.08) | 1.30 × 10−8 | ATP6AP1L/5q14.2 |
| 6 | rs1595344 | 74611632 | G | 1.05 (1.03–1.07) | 1.2 × 10−8 | CD109/6q13 |
| 6 | rs2226158 | 125995467 | G | 1.05 (1.03–1.07) | 2.6 × 10−8 | HEY2/6q22.31 |
| 7 | rs62468795 | 23530051 | G | 1.10 (1.07–1.14) | 8.05 × 10−9 | IGF2BP3/7p15.3 |
| 8 | rs10090060 | 75257608 | A | 1.08 (1.06–1.11) | 5.72 × 10−11 | GDAP1/8q21.11 |
| 8 | rs6468654 | 100062724 | C | 1.06 (1.04–1.08) | 2.5 × 10−8 | OSR2-VPS13B/8q22.2 |
| 10 | rs1802669 | 21827796 | A | 1.07 (1.05–1.10) | 5.52 × 10−9 | MLLT10/10p12.31 |
| 10 | rs796945 | 90150837 | C | 1.07 (1.05–1.10) | 1.78 × 10−9 | RNLS/10q23.31 |
| 11 | rs7924571 | 32350027 | C | 1.06 (1.04–1.08) | 3.5 × 10−8 | WT1/11p13 |
| 12 | rs17727841 | 102809630 | G | 1.06 (1.04–1.08) | 5.33 × 10−11 | IGF1/12q23.2 |
| 14 | rs7151531 | 93113547 | C | 1.07 (1.04–1.10) | 3.80 × 10−8 | RIN3/14q32.12 |
| 15 | rs4923850 | 40352278 | A | 1.05 (1.04–1.06) | 3.07 × 10−13 | BMF/15q15.1 |
| 17 | rs66683298 | 46277748 | C | 1.08 (1.06–1.11) | 1.73 × 10−10 | SKAP1/17q21.32 |
| 17 | rs76731691 | 63960269 | G | 1.08 (1.05–1.11) | 9.27 × 10−9 | CEP112/17q24.1 |
| X | rs13441059 | 70108889 | A | 1.05 (1.03–1.07) | 4.1 × 10−8 | TEX11-SLC7A3/Xq13.1 |
BP = genomic position in base pairs shown relative to GRCh37 (hg19); Chr = chromosome; CI = confidence interval; GWAS = genome-wide association study, OR = odds ratio with respect to RA; p = p value for association; RA = risk allele; SNP = single-nucleotide polymorphism.