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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 function

Known genetic predisposition to:

CD

UC

Common to CD/UC

Maintain epithelial integrity

MUC19, ITLN1

GNA12, HNF4A, CDH1, ERRFI1

 

Paneth cells

NOD2, LTLN1, ATG16L1

 

XBP1

Innate mucosal defense

NOD2, ITLN1

SLC11A1, FCGR2A/B

CARD9, REL

IL-23/Th17

STAT3

IL-21

IL-23R, JAK2, TYK2, ICOSLG, TNFSF15

Restitution

STAT3

ERRFI1, HNF4A, PLA2G2A/E

REL, PTGER4, NKX2-3

Immune tolerance

IL-27, SBNO2, NOD2

IL1R1/IL1R2

IL-10, CREM

T-cell regulation

NDFIP1, TAGAP, IL-2R

IL-2, TNFRSF9, PIM3, IL-7R, TNFSF8, IFNG

TNFSF8, IL-12B, IL-23, PRDM1, ICOSLG

B-cell regulation

IL-5, IKZF1, BACH2

IL-7R, IRF5

 

Solute transport

SLC9A4, SLC22A5, SLC22A4

AQP12A/B, SLC9A3, SLC26A3

 

Immune cell recruitment

IL8RA/IL8RB

CCL11, CCL2, CCL7, CCL8, CCR6

MST1

Antigen presentation

ERAP2, LNPEP, DENND1B

  

Autophagy

NOD2, ATG16L1, IRGM

PARK7, DAP

CUL2

Oxidative/ER stress

CAPEB4, PRDX5, BACH2, ADO, GPX1/3, SLC22A4, LRRK2, NOD2

SERINC3, HSPA6, DLD, PARK7

ORMDL3, XBP1, CARD9, UTS2, PEX13

Intracellular logistics

VAMP3, FGFR1OP, FASLG, THADA

TTLL8, CAP72, TPPP, ARPC2, LPS1, AAMP, DAP

KIF21B, PUS10, MST1

Metabolism

GCKR

 

SLC2A4RG