Table 2.

Larger GWAS studies that have identified common SNP variants associated with endometriosis.

Patients	Controls	SNPs	Genes/pathways	Reference
3194 surgically confirmed	Population controls 7060 (UK/Australia)	7p15.2 strongest in subgroup with stage III/IV disease; rs12700667	Intergenic region upstream of NFE2L3, HOXA10/A11	Painter et al. (2011a)
3223 women with surgically confirmed endometriosis, 1090 women without endometriosis	Population controls 7060	Examined 11,984 SNPs on chromosome 10. Signal 10q26 rs11592737 replicated	CYP2C19	Painter et al. (2011b)
4604 women with surgically confirmed endometriosis	9393 women of Japanese and European ancestry	rs12700667 replicated in Japanese; rs7521902 at 1p36.12; rs13394619 at 2p25	NFE2L3, HOXA10 WNT4 GREB1	Nyholt et al. (2012)
Meta-analysis of 11,506 cases: stage III/IV 2859	32,678 (European and Japanese)	8 of 9 loci have stronger effect in stage II/IV; rs1537377; rs13394619 rs12700667; rs7521902; rs7739264	CDKN2B-AS1; GREB1; WNT4; VEZT; ID4	Rahmioglu et al. (2014)
3908 diagnosis of endometriosis	8568 women of Japanese and European ancestry	rs6542095, rs3783550 rs3783525	IL4 locus	Sapkota et al. (2015b)
2594 Australians with positive diagnosis	4496 controls	rs3820282; rs12038474; + blood eQTL	Interactions with promoters of LINC00339, CDC42 (silencer)	Powell et al. (2016)
3194 (surgical confirmed) stage I/II 1686; stage III/IV 1364	7060 controls European ancestry	rs144240142 (intronic MAP3K4)	MAPK signalling pathway; ECM glycoprotein	Uimari et al. (2017)
Metanalysis 17,045 cases	191,596 controls	FN1, CCDC170, ESR1, SYNE1 and FSHB	Steroid receptors and steroid signalling	Sapkota et al. (2017)
Pooled GWAS, endometrioma, Han Chinese women 50 primary and 1448 for validation	1540 (had secondary infertility or fibroids)	10 novel loci	Most significant: IGF1R (signalling); Meis homeobox	Wang et al. (2017)