Table 2

Rare damaging variants gene-based burden tests for AIS-related genes

RankGeneCount of rare damaging variantsFrequency of rare damaging variants in AIS subjects (%)Frequency of rare damaging variants in controls subjects (%)OR (95% CI)
(AIS vs controls)
P value
(AIS vs controls)
AIS
(n=223)
Controls* (n=375)
1 FLNB 251111.212.934.178 (2.014 to 8.670)6.30E-05
2 TTC26 1657.171.335.720 (2.066 to 15.838)3.07E-04
43 PTK7 1144.931.074.813 (1.514 to 15.302)5.37E-03
4 CNTNAP2 823.590.536.940 (1.460 to 32.976)7.12E-03
5 FBN1 823.590.535.720 (2.066 to 15.838)7.12E-03
6 TTLL3 833.590.804.614 (1.211 to 17.577)2.33E-02
7 FBN2 843.591.073.451 (1.027 to 11.596)6.51E-02
8 IFT122 642.691.072.565 (0.716 to 9.189)1.86E-01
  • P value is calculated using Fisher’s exact test.

  • *In-house controls (n=153) and 1000 Genomes Project controls (n=222) were combined in gene-based burden tests.

  • AIS, adolescent idiopathic scoliosis.