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Table 1 Some of the known gene mutations associated with IBD

From: Integrating omics for a better understanding of Inflammatory Bowel Disease: a step towards personalized medicine

Biological functionKnown genetic predisposition to:
CDUCCommon to CD/UC
Maintain epithelial integrityMUC19, ITLN1GNA12, HNF4A, CDH1, ERRFI1 
Paneth cellsNOD2, LTLN1, ATG16L1 XBP1
Innate mucosal defenseNOD2, ITLN1SLC11A1, FCGR2A/BCARD9, REL
IL-23/Th17STAT3IL-21IL-23R, JAK2, TYK2, ICOSLG, TNFSF15
RestitutionSTAT3ERRFI1, HNF4A, PLA2G2A/EREL, PTGER4, NKX2-3
Immune toleranceIL-27, SBNO2, NOD2IL1R1/IL1R2IL-10, CREM
T-cell regulationNDFIP1, TAGAP, IL-2RIL-2, TNFRSF9, PIM3, IL-7R, TNFSF8, IFNGTNFSF8, IL-12B, IL-23, PRDM1, ICOSLG
B-cell regulationIL-5, IKZF1, BACH2IL-7R, IRF5 
Solute transportSLC9A4, SLC22A5, SLC22A4AQP12A/B, SLC9A3, SLC26A3 
Immune cell recruitmentIL8RA/IL8RBCCL11, CCL2, CCL7, CCL8, CCR6MST1
Antigen presentationERAP2, LNPEP, DENND1B  
AutophagyNOD2, ATG16L1, IRGMPARK7, DAPCUL2
Oxidative/ER stressCAPEB4, PRDX5, BACH2, ADO, GPX1/3, SLC22A4, LRRK2, NOD2SERINC3, HSPA6, DLD, PARK7ORMDL3, XBP1, CARD9, UTS2, PEX13
Intracellular logisticsVAMP3, FGFR1OP, FASLG, THADATTLL8, CAP72, TPPP, ARPC2, LPS1, AAMP, DAPKIF21B, PUS10, MST1
MetabolismGCKR SLC2A4RG
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Journal of Translational Medicine

ISSN: 1479-5876

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