Table 3.
Genome-wide Significant Loci in the Meta-analysis of Mothers of Spontaneous DZ Twins and Replication versus Screened Control Subjects
| SNP | Locus | Positiona | Gene | Annotation | Risk Allele |
Meta-analysis |
Replication |
Combined |
||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RAF | OR (95%CI) | p | RAF | OR (95% CI) | p | p | ||||||
| rs11031006 | 11p14.1 | 30226528 | FSHB | 5′ upstream | G | 0.85 | 1.41 (1.29–1.53) | 1.54 × 10−9 | 0.85 | 1.14 (1.06–1.22) | 3 × 10−3 | 1.25 × 10−10 |
| rs17293443 | 15q22.33 | 67437863 | SMAD3 | intron | C | 0.24 | 1.27 (1.19–1.35) | 1.57 × 10−8 | 0.21 | 1.15 (1.07–1.23) | 1.44 × 10−4 | 6.29 × 10−11 |
| rs12064669 | 1q42.13 | 230688643 | – | intergenic | C | 0.10 | 1.43 (1.31–1.55) | 1.23 × 10−8 | 0.07 | 1.01 (0.89–1.13) | 0.88 | 2.09 × 10−7 |
Sample sizes for mothers of spontaneous DZ twins and replication are n = 1,980 and n = 3,597, respectively. Abbreviations are as follows: RAF, risk allele frequency; OR, odd ratio; 95% CI, 95% confidence interval.
a
SNP position according to NCBI Human Genome Build 37.