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. P values are for the Pearson's chi-square test. OR and 95% CI are computed for comparison between OMA or DIG and CTR. Phet: P 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 (N) | OMA (N) | P 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 (N) | DIG (N) | P-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 | |