Table II.
Loci significantly associated (P < 5 × 10−8) with inverse normally transformed AMH in women.
| Nearest gene | SNP | Chr | Pos | EA | OA | EAF | n | Imputation quality | Effect (SE) | P | Direction | P het | Percentage of variance in AMH explained |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AMH | rs10417628 | 19 | 2 251 817 | T | C | 0.02 | 7049 | 0.83 | −0.34 (0.05) | 1.2 × 10−11 | −−−−− | 0.14 | 0.50% |
| TEX41 | rs13009019 | 2 | 145 670 572 | A | G | 0.69 | 7049 | 0.95 | −0.09 (0.01) | 7.2 × 10−10 | −−−−− | 0.24 | 0.35% |
| MCM8 | rs16991615 | 20 | 5 948 227 | A | G | 0.07 | 7049 | 0.99 | 0.16 (0.03) | 1.2 × 10−8 | ++−++ | 0.0009 | 0.30% |
| CDCA7 | rs11683493 | 2 | 174 259 325 | T | C | 0.57 | 7049 | 0.97 | −0.08 (0.01) | 1.7 × 10−8 | −−−−− | 0.03 | 0.32% |
Definition of columns: nearest gene, nearest gene identified using DEPICT tool (Subjects and Methods); SNP, genetic variant identified as lead SNP; Chr, chromosome; Pos, base pair position genomic build GRCh37; EA, effect allele; OA, other allele; EAF, effect allele frequency; n, number of samples contributing to estimate; imputation quality, mean imputation quality over the included studies; effect (SE); effect size and corresponding standard error; P, P-value; Direction, direction of effect for previous GWAS, ALSPAC mothers, ALSPAC daughters, Doetinchem Cohort Study and SWAN, respectively; Phet, P-value for heterogeneity of effect across studies; AMH, anti-Müllerian hormone; SWAN, Study of Women’s Health Across the Nation.