Identification of Susceptibility Genes for Peritoneal, Ovarian, and Deep Infiltrating Endometriosis Using a Pooled Sample-Based Genome-Wide Association Study

Table 2

Distribution of genotype and allele frequencies in cases and controls. NA: not applicable, OR: odds ratio, 95% CI: 95% confidence interval, CTR: controls, SUP: superficial peritoneal endometriosis, OMA: endometrioma, and DIG: deep infiltrating endometriosis (DIE) with intestinal involvement. values are for the Pearson's chi-square test. OR and 95% CI are computed for comparison between OMA or DIG and CTR. Phet: value for heterogeneity across discovery and replication steps calculated using the Breslow-Day test. Detailed results for the 21 SNPs tested are available as Supplemental Tables 6 and 8. Detailed results for all subtypes of DIE are available as Supplemental Table 7.

SNP (gene) chromosome	Genotypes							Alleles				OR (95% CI)	Phet
	CTR ()			OMA ()			value	CTR (%)		OMA (%)
Rs227849 (RUNX2, SUPT3H, CDC5L) [6]	AA	AG	GG	AA	AG	GG		A	G	A	G
	39	39	17	7	27	16	0,003	61.6	38.4	41.0	59.0	2.31 (1.41–3.78)	0,22
Rs4703908 (ZNF366) [5]	CC	CG	GG	CC	CG	GG		C	G	C	G
	64	30	1	24	21	5	0,009	83.2	16.8	69.0	31.0	2.22 (1.26–3.92)	0,28
Rs2479037 (VTI1A) [10]	CC	CT	TT	CC	CT	TT		C	T	C	T
	5	25	160	0	3	63	0,005	9.2	90.8	2.3	97.7	4.36 (1.32–14.43)	0,34
Rs966674 [5]	CC	CG	GG	CC	CG	GG		C	G	C	G
	169	22	1	50	17	3	0,002	93.7	6.3	83.6	16.4	2.95 (1.60–5.42)	0,55
	CTR ()			DIG ()			-value	CTR (%)		DIG (%)
Rs4703908 (ZNF366) [5]	CC	CG	GG	CC	CG	GG		C	G	C	G
	64	30	1	15	22	0	0,012	83.2	16.8	70.3	29.7	2.09 (1.12–3.91)	0,24