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Table 2 The most important single nucleotide variants (SNV) found to be associated with idiopathic scoliosis in GWAS

From: Genetics and pathogenesis of idiopathic scoliosis

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]

-

  1. RAF Risk allele frequency, OR Odds ratio, CI Confidence interval