Table 1. Summary statistics of the eight independent SNPs associated with PWV in infancy, BMI-AP in infancy, Age-AR, and BMI-AR in discovery (stage 1) and follow-up (stage 2) and in combined meta-analyses.
| Stage 1 (n = 7,215) | Stage 2 (n = 16,550) | Combined (n = 22,769) | ||||||||
| Index SNP |
Chromosome position* |
In/near gene |
Effect allele/ other allele |
Effect allele frequency |
Effect size (SE) |
P |
Effect size (SE) |
P |
Effect size (SE) |
P |
| PWV (kg/month)† | ||||||||||
| rs2860323 | chr2:614210 | TMEM18 | G/A | 0.12 | 0.09 (0.02) | 5.9 × 10−5 | 0.02 (0.02) | 4.7 × 10−1 | 0.06 (0.02) | 3.9 × 10−4 |
| BMI-AP (kg/m2)† | ||||||||||
| rs9436303 | chr1:65430991 | LEPR/LEPROT | G/A | 0.22 | 0.13 (0.02) | 4.7 × 10−8 | 0.05 (0.01) | 6.7 × 10−4 | 0.07 (0.01) | 8.3 × 10−9 |
| rs10515235 | chr5:96323352 | PCSK1 | A/G | 0.21 | 0.09 (0.02) | 9.7 × 10−7 | 0.03 (0.01) | 1.5 × 10−2 | 0.05 (0.01) | 2.4 × 10−6 |
| Age-AR (years)† | ||||||||||
| rs1421085 | chr16:53767042 | FTO | C/T | 0.25 | −0.10 (0.02) | 6.1 × 10−8 | −0.13 (0.01) | 7.1 × 10−24 | −0.12 (0.01) | 3.1 × 10−30 |
| rs2956578 | chr5:36497552 | Intergenic region‡ |
G/A | 0.31 | 0.11 (0.02) | 6.7 × 10−8 | 0.00 (0.01) | 8.3 × 10−1 | 0.04 (0.01) | 1.1 × 10−3 |
| rs2817419 | chr6:50845193 | TFAP2B | A/G | 0.76 | −0.10 (0.02) | 2.9 × 10−6 | −0.07 (0.01) | 1.8 × 10−6 | −0.08 (0.01) | 4.4 × 10−11 |
| BMI-AR (kg/m2)† | ||||||||||
| rs10938397 | chr4:45180510 | GNPDA2 | G/A | 0.35 | 0.09 (0.02) | 5.4 × 10−6 | 0.05 (0.01) | 3.1 × 10−4 | 0.06 (0.01) | 2.9 × 10−8 |
| rs2055816 | chr11:85406487 | DLG2 | C/T | 0.25 | −0.13 (0.02) | 1.4 × 10−7 | −0.03 (0.02) | 1.8 × 10−1 | −0.07 (0.02) | 5.1 × 10−6 |
*SNP positions are according to dbSNP build 147.
†The effect size is the change in SDs per effect allele from linear regression, adjusted for child’s sex and principal components (PCs) assuming an additive genetic model. BMI-AP was additionally adjusted for gestational age (GA). PWV, BMI-AP, and BMI-AR were log-transformed because of skewness in their distribution. Original phenotype measurement units are denoted in parentheses. None of the loci for PHV passed the selection criteria for stage 2 follow-up. P values for discovery and combined analysis are shown in bold if genome-wide significant (P < 5 × 10−8). The maximum sample size used in meta-analyses of each stage is shown in parentheses. Results are from inverse-variance fixed-effects meta-analysis of European ancestry children. The effect allele for each SNP is labeled on the positive strand according to HapMap.
‡Intergenic region between RANBP3L and SLC1A3.