Table 1.
Ten maternal genetic loci associated with offspring birth weight (P < 5 × 10−8) in a European ancestry meta-analysis of up to 86 577 women
| Locus | Lead SNP | Chr | Position (bp, b37) | Alleles |
EAF | EGG + UKBB meta-analysis |
||
|---|---|---|---|---|---|---|---|---|
| Effect/Other | Effect (SE) | P-value | n | |||||
| MTNR1B | rs10830963 | 11 | 92708710 | G/C | 0.29 | 0.052 (0.006) | 1.0 × 10−19 | 71 341 |
| HMGA2 | rs1351394 | 12 | 66351826 | T/C | 0.49 | 0.034 (0.005) | 1.4 × 10−10 | 68 247 |
| SH2B3 | rs3184504 | 12 | 111884608 | C/T | 0.52 | 0.033 (0.005) | 6.9 × 10−10 | 68 249 |
| KCNAB1a | rs7629460 | 3 | 155829938 | C/A | 0.59 | 0.039 (0.007) | 1.6 × 10−9 | 48 632 |
| KCNAB1b | rs9872556 | 3 | 155829855 | T/C | 0.57 | 0.029 (0.005) | 8.1 × 10−8 | 68 253 |
| L3MBTL3 | rs9375694 | 6 | 130356608 | G/A | 0.31 | 0.035 (0.006) | 2.1 × 10−9 | 68 223 |
| GCK | rs2971669 | 7 | 44231778 | T/C | 0.23 | 0.038 (0.007) | 5.5 × 10−9 | 68 162 |
| EBF1a | rs12520982 | 5 | 157894747 | T/C | 0.74 | 0.041 (0.007) | 9.9 × 10−9 | 48 632 |
| EBF1b | rs2964484 | 5 | 157897437 | A/G | 0.71 | 0.031 (0.006) | 4.6 × 10−7 | 67 547 |
| TCF7L2 | rs7903146 | 10 | 114758349 | T/C | 0.30 | 0.034 (0.006) | 1.2 × 10−8 | 68 253 |
| ACTL9 | rs2918299 | 19 | 8787273 | C/T | 0.83 | 0.041 (0.007) | 2.2 × 10−8 | 67 603 |
| CYP3A7a | rs45446698 | 7 | 99332948 | G/T | 0.04 | 0.089 (0.016) | 2.4 × 10−8 | 48 632 |
Effects were aligned to the birth weight-raising allele and are presented in SD units [1 SD of birth weight = 484 g (7)]. Chr, chromosome; bp, base pair; b37, build 37; EAF, effect allele frequency.
Index SNPs available in UK Biobank only.
Results for proxy SNPs (r2 = 1) at KCNAB1 and EBF1 available in both UK Biobank and EGG (imputed to HapMap Phase 2) are shown below the index SNPs, with full details in Supplementary Material, Table S4 (in both cases there was weak evidence of heterogeneity of effect size between EGG and UK Biobank, P < 0.01). No proxy for rs45446698 at CYP3A7 with r2 > 0.5 was available in HapMap Phase 2.