Table 2.
The most important single nucleotide variants (SNV) found to be associated with idiopathic scoliosis in GWAS
| SNV name | Gene | RAF cases | RAF controls | P-value | OR(95%CI) | Reference | Replicated |
|---|---|---|---|---|---|---|---|
| rs11190870 | LBX1 downstream | 0.67 | 0.57 | 1.2 × 10−19 | 1.6(1.4–1.7) | Takahashi et al. 2011 [50] | Londono et al. 2014 [51], Gao et al. 2013 [52], Grauers et al. 2015 [53] |
| rs657507 | GPR126 intron | 0.32 | 0.28 | 1.6 × 10−4 | 1.2(1.1–1.4) | Kou et al. 2013 [61] | Xu et al.2015 [62] Grauers et al. 2015 [53] |
| rs12946942 | Intergenic | 0.26 | 0.21 | 4.0 × 10−8 | 2.0(1.6–2.7) | Miyake et al. 2013 [64] | Grauers et al. 2015 [53] |
| rs3904778 | BNC2 | - | - | 2.5 × 10−13 | 1.2(1.2–1.3) | Ogura et al.2015 [63] | - |
| rs6137473 | PAX1 | - | - | 2.2 × 10−10 | 1.3(1.2–1.4) | Sharma et al. 2015 [68] | - |
RAF Risk allele frequency, OR Odds ratio, CI Confidence interval