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. Author manuscript; available in PMC: 2017 Jul 9.
Published in final edited form as: Nat Genet. 2017 Jan 9;49(2):186–192. doi: 10.1038/ng.3761

Table 1. Burden of rare, predicted damaging (CADD ≥ 21) coding variation in IBD gene sets.

Gene set Constituents Phenotype P-value
NOD2 NOD2 CD 4.00 x 10-07
Other IBD genes implicated by causal coding or eQTL variants (genes in brackets had zero contributing rare variants) CARD9, FCGR2A, IFIH1, IL23R, MST1, (SMAD3), TYK2, (IL10), IL18RAP, (ITGAL), NXPE1, TNFSF8 UC 0.46153
ATG16L1, CARD9, CD6, FCGR2A, FUT2, IL23R, MST1, (NOD2), PTPN22, (SMAD3), TYK2, ERAP2, (IL10), IL18RAP, (IL2RA), (SP140), TNFSF8 CD 0.00448
CARD9, FCGR2A, IL23R, MST1, (SMAD3), TYK2, (IL10), IL18RAP, TNFSF8 IBD 0.00261
Other IBD GWAS genes Genes implicated by two or more candidate gene approaches in Jostins et al (2012) UC 0.95123
CD 0.94382
IBD 0.93070