Table 2.
Discovery cohort, replication cohort, and fixed-effects meta-analysis pooled results for maternal SNPs rs12365708 (MTL5, 11q13.2-q13.3), rs6496 (ALKBH1, 14q24.3), and rs4536103 (NEUROG3, 10q21.3).
| Discovery cohort1 | Replication cohort2 | Pooled estimate | ||||||
|---|---|---|---|---|---|---|---|---|
| SNP | MAF | RR (95% CI) | P | MAF | RR (95% CI) | P | RR (95% CI) | P |
| rs12365708 | 0.13 | 2.62 (1.61-4.27) | 1.86×10−5 | 0.06 | 1.36 (0.54-3.44) | 0.52 | 2.27 (1.48-3.50) | 1.99×10−4 |
| rs6494 | 0.06 | 3.77 (1.84-7.74) | 3.73×10−5 | 0.09 | 1.38 (0.67-2.87) | 0.38 | 2.31 (1.38-3.85) | 0.001 |
| rs4536103 | 0.38 | 1.75 (1.30-2.37) | 1.17×10−4 | 0.41 | 1.46 (0.89-2.41) | 0.14 | 1.67 (1.29-2.16) | 9.23×10−5 |
1
The discovery cohort was comprised of 312 families: 108 case-parent trios, 148 case-parent duos, 32 cases alone, 7 mother-father pairs, and 17 parent singletons.
2
The replication cohort was comprised of 152 families: 15 case-parent trios, 96 parent-child duos, 25 cases alone, 4 mother-father pairs, and 12 singleton parents