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Contribution to heritability of ankylosing spondylitis of confirmed susceptibility genes

Contribution to heritability of ankylosing spondylitis of confirmed susceptibility genes
Gene name or chromosomal region Most highly associated SNP Odds ratio Overall contribution to AS heritability (percent)
HLA-B27 rs4349859 90.4 23.3
IL23R rs11209026 1.90 0.31
LTBR-TNFRSF1A rs11616188 1.38 0.075
2p15 rs10865331 1.36 0.54
ERAP1 rs30187 1.35 0.34
KIF21B rs2297909 1.25 0.25
21q22 rs378108 1.25 0.035
TBKBP1 rs8070463 1.24 0.054
ANTXR2 rs4389526 1.21 0.054
PTGER4 rs10440635 1.20 0.052
RUNX3 rs11249215 1.19 0.12
IL12B rs6556416 1.18 0.11
CARD9 rs10781500 1.18 0.034
IL1R2 rs2310173 1.18 0.12
Total: 25.39
NOTE: The estimated heritability contribution of IL23R was increased to 0.35 in a 2013 publication[1].
SNP: single nucleotide polymorphism.
Reference:
  1. International Genetics of Ankylosing Spondylitis Consortium (IGAS), Cortes A, Hadler J, et al. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nat Genet 2013; 45:730.
Reprinted by permission from: Macmillan Publishers Ltd: Nature Reviews Rheumatology. Reveille JD. Genetics of spondyloarthritis - beyond the MHC. Nat Rev Rheumatol 2012; 8:296. Copyright © 2012.
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