Table 2.
Association results of DDH GWASs
| rsID | CHR | POS | Gene | Allele1 | Allele2 | Freq1 | OR(95%CI) | P-value | Direction | HetP-Val |
|---|---|---|---|---|---|---|---|---|---|---|
| Hip dysplasia | ||||||||||
| rs1704995 | 6 | 33187688 | COL11A2 | T | C | 0.817 | 1.48(1.29–1.71) | 4.8 × 10−8 | +++ | 0.21 |
| rs10241320 | 7 | 71258598 | CALN1 | T | C | 0.180 | 1.56(1.35–1.79) | 7.1 × 10−10 | +++ | 0.46 |
| rs7168702 | 15 | 50959151 | TRPM7 | T | C | 0.989 | 0.17(0.09–0.31) | 1.2 × 10−8 | −−− | 0.69 |
| DDH | ||||||||||
| rs142273463 | 4 | 177942225 | VEGF-C | A | G | 0.994 | 0.12(0.06–0.23) | 1.1 × 10−10 | −−−−−− | 0.19 |
| rs146711505 | 6 | 1531009 | FOXC1 | T | TTG | 0.234 | 0.73(0.66–0.82) | 4.7 × 10−8 | −−−−−− | 0.62 |
| rs147057560 | 9 | 107067481 | SMC2 | T | G | 0.991 | 0.19(0.12–0.32) | 2.1 × 10−10 | −−−−−− | 0.39 |
| rs78572420 | 12 | 47109115 | SLC38A4 | A | G | 0.775 | 0.74(0.66–0.82) | 3.9 × 10−8 | −−−−−− | 0.070 |
| rs7168702 | 15 | 50959151 | TRPM7 | T | C | 0.990 | 0.20(0.12–0.33) | 8.1 × 10−10 | −−−+−− | 0.30 |
| Meta analysis JPN and UK DDH | ||||||||||
| rs993471 | 1 | 103385373 | COL11A1 | A | G | 0.639 | 1.23(1.14–1.33) | 2.2 × 10−8 | +++++++ | 0.59 |
| rs143384 | 20 | 34025756 | GDF5 | A | G | 0.686 | 1.39(1.29–1.50) | 5.8 × 10−17 | +++++++ | 0.33 |
DDH developmental dysplasia of the hip, CHR chromosome, POS position (position base pair in genome build hg19), Allele1 effect allele, Allele2 alternative allele, Freq1 frequency for effect allele across this analysis, OR odds ratio, CI confidence interval, P-value meta-analysis P-value; Direction, summary of effect direction for each study (Hip dysplasia; GWAS set1/GWAS set2/GWAS set3, JPN DDH Japanese hip dysplasia GWAS set1/Japanese hip dysplasia GWAS set2/Japanese hip dysplasia GWAS set3/Japanese dislocated hip GWAS set1/Japanese dislocated hip GWAS set2/Japanese dislocated hip GWAS set3, Meta analysis JPN and UK DDH; UK-DDH GWAS /Japanese hip dysplasia GWAS set1/Japanese hip dysplasia GWAS set2/Japanese hip dysplasia GWAS set3/Japanese dislocated hip GWAS set1/Japanese dislocated hip GWAS set2/Japanese dislocated hip GWAS set3); HetPVal, P-value for heterogeneity statistic