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Genes and IBD

There are many Genes and Gene Mutations implicated in Inflammatory Bowel Disease (IBD). Some Genes are specific to Crohn's Disease (CD), Ulcerative Colitis (UC), or Both. Some mutations correlate to an increased predisposition to IBD while others are tightly linked and may indicate age of onset and/or disease progression. Certain Gene Mutations may increase likelihood of Extraintestinal Manifestations This Wiki attempts to catalog and describe known Genes linked to IBD.

*Note: Genes listed in Bold are implicated in both Crohn's Disease and Ulcerative Colitis

Contents


Genes and Crohn's Disease

*Slight Associations are Noted in Italics
GeneNameFunctionAssociated Conditions
ADO2 - Aminoethanethiol (Cysteamine) DioxygenaseCrohn's Disease; Ewing Sarcoma; Breast Size; Breast Cancer Risk
ATG16L1Autophagy Related 16 Like 1Autophagy; Bacterial ClearanceCrohn's Disease; Ulcerative Colitis[11]
BACH2BTB and CNC Homology 1, Basic Leucine Zipper Transcription Factor 2B - Cell Transcription FactorAntibody Immune Response Defect; Celiac Disease[11]; Chronic Myeloid Leukemia (CML); Diabetes (Type 1)[11]; Leukemia; Non Hodgkin Lymphoma
CARD9[7]Caspase Recruitment Domain Family, Member 9Immune Response RegulationAnkylosing Spondylitis, Recurrent, Familial Candidiasis, Crohn's Disease, Ulcerative Colitis
CCL2Chemokine (C-C Motif) Ligand 2Crohn's Disease
CCL7Chemokine (C-C Motif) Ligand 7Crohn's Disease
CCR6Chemokine (C-C Motif) Receptor 6Crohn's Disease
CDKAL1CDK5 Regulatory Subunit Associated Protein 1-Like 1Crohn's Disease, Diabetes (Type 2), Psoriasis
CKRL3Chemokine Receptor Like 3
CPEB4rs359457
CREMCAMP Responsive Element Modulatorrs12242110
CUL2Cullin 2Tumor Suppressor
DEFA5Defensin Alpha 5
DENND1BDENN/MADD Domain Containing 1BEndocytosis; Repressor of TNFR1 SignalingAsthma; Crohn's Disease (CD)
DNMT3ADNA MethylTransferase 3aRegulation of Innate Immune and Adaptive Immune Responses and OtherCrohn's Disease
ElafinSkin Derived AntileukoproteaseNeutralize Tissue Damaging Enzymes (Proteases) Released by Inflammatory Responding Cells, also have Antimicrobial ActivityCrohn's Disease; Psoriasis
ERAP2Endoplasmic Reticulum Aminopeptidase 2rs2549794
FADS1rs102275
FASLG
FGFR1OPFibroblast Growth Factor Receptor 1 Oncogene Partner
FUT2Alpha - 1, 2 FucosyltransferaseABO Blood Group Antigen SecretionCrohn's Disease; Microbial Disease Susceptibility / Resistance
GALCGalactosylceramidasers8005161
GCKRGlucokinase (Hexokinase 4) RegulatorCrohn's Disease; CRP Levels; Glucose Levels; Triglyceride Levels[11]
GPX1
GPX4rs740495
GSMDLrs2872507
IKZF1rs1456896
IL5Interleukin 5
IL6Interleukin 6Crohn's Disease associated growth failure; Diabetes; Kaposi Sarcoma; Rheumatoid Arthritis (Juvenile); Vascular Malformations / Hemorrhage (Brain)
IL10Interleukin 10Limits Immune ResponseBehcet's Disease; Crohn's Disease; Diabetes (Type 1); Hepatitis C; Systemic Lupus Erythematosus (SLE); Ulcerative Colitis[11]
IL12BInterleukin 12Brs6556412
IL17[6]Interleukin 17ProInflammatory Cytokine. Target for Brodalumab[17][18], Ixekizumab (Eli Lilly)[20], and Secukinumab[19]Asthma; Crohn's Disease; Multiple Sclerosis (MS); Psoriasis; Rheumatoid Arthritis (RA); Systemic Lupus Erythematosus (SLE); Ulcerative Colitis (UC)
IL18RAPrs2058660
IL19Interleukin 19Behcet's Disease; Crohn's Disease; Diabetes (Type 1); Hepatitis C; Systemic Lupus Erythematosus (SLE); Ulcerative Colitis[11]
IL23RInterleukin 23RRisk or Protection: Ankylosing Spondylitis; Crohn's Disease; Psoriasis; Psoriatic Arthritis; Ulcerative Colitis
IL2RArs12722489
IL27Interleukin 27
IRGM[4]Immunity Related GTPase Family MAutophagy, Defense against MycobacteriaCrohn's Disease
ITLN1Intelectin 1 (Galactofuranose Binding)Crohn's Disease; Systemic Lupus Erythematosus (SLE); Rheumatoid Arthritis (RA)[11]
JAK2Janus Kinase 2Transmits and amplifies Intracellular signals by addding a Phosphate group on STAT protein. Often modulates gene expression. Target of Xeljanz[21]Budd-Chiari Syndrome; Crohn's Disease[11][16]; Leukemia; Myelofibrosis (Primary); Polycythemia Vera; Thrombocythemia (Essential)
KIF21B
LNPEP
LRRK2
OCTN1Organic Cation / Carnitine Transporter 1. Also called SLC22A4 and Ergothioneine Transporter[5]Organic Cation TransporterCrohn's Disease; Colorectal Cancer; Rheumatoid Arthritis (RA)
OCTN2
ORMDL3
MAP3K7IP1rs2413583
MCCD1rs1799964
MCP2
MCP3
MLXrs11871801
MST1rs3197999
MTMR3rs713875
MUC1Asthma; Crohn's Disease; Diabetes (Type 2); Parkinson's Disease[11]
MUC19Mucin 19Crohn's Disease
NDFIP1rs11167764
NHE4
NKX2-3NK2 Transcription Factor Related, Locus 3Development in Certain Tissues including Small Intestine, Spleen, certain Immune Cells.Crohn's Disease; Ulcerative Colitis
NOD2 / CARD15Nucleotide-Binding Oligomerization Domain Protein 2AutophagyCrohn's Disease; Blau Syndrome; Sarcoidosis
PEX13
PLCL1Phospholipase C-Like 1rs6738825
PRDM1rs6568421
PRDX5rs694739
PTGER4rs11742570
PTPN2rs1893217
PTPN22[1][2]Protein Tyrosine PhosphataseEnhances activation of T Cell Receptor (TCR) on Immune CellsAutoimmune Thyroiditis (AIT); Crohn's Disease (or Protective); Diabetes (Type 1); Graves' Disease; Hashimoto Thyroiditis; Multiple Sclerosis (MS); Psoriasis[11] Rheumatoid Arthritis (RA); Systemic Lupus Erythematosus (SLE)
PUS10Pseudouridylate Synthase 10
REG4[8][b]Regenerating IV Gene[b]Cancers (esp. Colorectal Tumors)Crohn's Disease, Ulcerative Colitis
RTEL1rs4809330
REL
SBNO2
SCAMP3Asthma; Crohn's Disease; Diabetes (Type 2); Parkinson's Disease[11]
SLC22A4Solute Carrier Family 22 Member 4. Also called OCTN1 and Ergothioneine Transporter[5]Organic Cation TransporterCrohn's Disease; Colorectal Cancer; Rheumatoid Arthritis (RA)
SLC2A4RGrs12521868
SCYA11
SMAD3rs17293632
SP140rs7423615
STAT3Signal Transducer and Activator of Transcription 3Transcription FactorCancer; Crohn's Disease; Hyper-IgE Recurrent Infection Syndrome; Ulcerative Colitis
TAGAPT Cell Activation GTPase Activating ProteinHelps regulate T Cells in the Immune ResponseCeliac Disease; Diabetes (Type 1); Rheumatoid Arthritis
THADACrohn's Disease; Prostate Cancer[11]
TLE1
TMEM174rs7702331
TNFSF8
TNFSF11rs2062305
TNFSF15 (aka. TL1, VEGI)Tumour Necrosis Factor Superfamily, Member 15Promotes Apoptosis, Immune Cell / Inflammation Regulator, Inhibits Tumor Formation, Inhibits Blood Vessel FormationCrohn's Disease
TNFSF18rs7517810
TYK2Tyrosine Kinase 2 (JAK Family)
UBE2D1rs1819658
UTS2
VAMP3[11]Vesicle Associated Membrane Protein 3.Autophagy; Cell Migration; Cell Adhesion; TNF-alpha uptake and secretion by cellsCeliac Disease; Crohn's Disease
XBP1X - Box Binding Protein 1Transcription FactorCrohn's Disease, Ulcerative Colitis
YDJCrs181359
ZFP36L1rs4902642
ZMIZ1Zinc Finger Miz Domain Containing 1 (Retinoic Acid Induced Gene 17 - RAI17)Increases Transcriptional Activity of Androgen Receptor (AR)Breast Cancer; Celiac Disease; Crohn's Disease; Multiple Sclerosis; Vitiligo
ZNF365Zinc Finger Protein 365Possible role in Uric Acid ExcretionBreast Cancer[11][12][13]; Crohn's Disease[11][14]; Uric Acid Nephrolithiasis Susceptibility[15]

Genes and Celiac Disease

*Slight Associations are Noted in Italics
GeneNameFunctionAssociated Conditions
BACH2BTB and CNC Homology 1, Basic Leucine Zipper Transcription Factor 2B - Cell Transcription FactorAntibody Immune Response Defect; Celiac Disease[11]; Chronic Myeloid Leukemia (CML); Diabetes (Type 1)[11]; Leukemia; Non Hodgkin Lymphoma
ICOSLG[11]Celiac Disease; Crohn's Disease; Ulcerative Colitis
SH2B3[2]Celiac Disease (or Protective); Diabetes (Type I); Heart Attack; High Blood Pressure; Multiple Sclerosis (MS)(or Protective); Rheumatoid Arthritis (RA)
VAMP3Vesicle Associated Membrane Protein 3.Autophagy; Cell Migration; Cell Adhesion; TNF-alpha uptake and secretion by cellsCeliac Disease; Crohn's Disease

Genes and Ulcerative Colitis

GeneNameFunctionAssociated Conditions
ATG16L1Autophagy Related 16 Like 1Autophagy; Bacterial ClearanceCrohn's Disease; Ulcerative Colitis[11]
CARD9[7]Caspase Recruitment Domain Family, Member 9Immune Response RegulationAnkylosing Spondylitis, Recurrent, Familial Candidiasis, Crohn's Disease, Ulcerative Colitis
ICOSLGCeliac Disease; Crohn's Disease; Ulcerative Colitis
IL10Interleukin 10Limits Immune ResponseBehcet's Disease; Crohn's Disease; Diabetes (Type 1); Hepatitis C; Systemic Lupus Erythematosus (SLE); Ulcerative Colitis[11]
IL17[6]Interleukin 17ProInflammatory CytokineAsthma; Crohn's Disease; Multiple Sclerosis (MS); Psoriasis; Rheumatoid Arthritis (RA); Systemic Lupus Erythematosus (SLE); Ulcerative Colitis (UC)
IL23RInterleukin 23RRisk or Protection: Ankylosing Spondylitis; Crohn's Disease; Psoriasis; Psoriatic Arthritis; Ulcerative Colitis
NKX2-3NK2 Transcription Factor Related, Locus 3Development in Certain Tissues including Small Intestine, Spleen, certain Immune Cells.Crohn's Disease; Ulcerative Colitis[11]

References

[pos]1a[/pos][1]. DeJager PL, Sawcer S, Waliszewska A, Farwell L, Wild G, Cohen A, Langelier D, Bitton A, Compston A, Hafler DA, Rioux JD. Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn's disease and multiple sclerosis. Eur J Hum Genet. 2006; 14: 317-321. http://www.nature.com/ejhg/journal/v...f/5201548a.pdf

[pos]2a[/pos][2]. Eriksson N, Tung JY, Kiefer AK, Hinds DA, Francke U, Mountain JL, Do CB. Novel Associations for Hypothyroidism Include Known Autoimmune Risk Loci. PLoS ONE. 2012; 7(4): e34442. doi:10.1371/journal.pone.0034442. http://www.plosone.org/article/fetch...esentation=PDF

[pos]4a[/pos][4]. Singh SB, Davis AS, Taylor GA, Deretic V. Human IRGM Induces Autophagy to Eliminate Intracellular Mycobacteria. Science Express. 2006; 313(5792): 1438-1441. http://www.sciencemag.org/content/31.../1438.full.pdf

[pos]5a[/pos][5]. Taubert D, Grimberg G, Jung N, Rubbert A, Schomig E. Functional role of the 503F variant of the organic cation transporter OCTN1 in Crohn’s disease. Gut. 2005; 54: 1505-1506. http://gut.bmj.com/content/54/10/1505.full.pdf+html

[pos]6a[/pos][6]. Fujino S, Andoh A, Bamba S, Ogawa A, Hata K, Araki Y, Bamba T, Fujiyama Y. Increased expression of interleukin 17 in inflammatory bowel disease. Gut. 2003; 52: 65-70.http://gut.bmj.com/content/52/1/65.full.pdf+html

[pos]7a[/pos][7]. Pointon JJ Harvey D, Karaderi T et al. Elucidating the Chromosome 9 Association with AS; CARD9 is a Candidate Gene. Genes and Immunity. 2010; 11(6): 490-496. http://www.ncbi.nlm.nih.gov/pmc/arti...kmss-28653.pdf

[pos]8a[/pos][8]. Violette S, Festor E, Pandrea-Vasile I, et al. Reg IV, a new member of the regenerating gene family, is overexpressed in colorectal carcinomas. Int. J. Cancer. 2003; 103(2): 185-193. http://onlinelibrary.wiley.com/doi/1.../ijc.10788/pdf

[pos]9a[/pos][9] Curtis L. Researchers discover 71 new human genes associated with bowel diseases. NIH News. Updated November 2012; Accessed November 2012. http://www.nih.gov/news/health/nov2012/niddk-01.htm

[pos]10a[/pos][10]. Parkes M. 33 new Crohn's disease susceptibility genes and loci identified by the International IBD Genetics Consortium. Accessed November 2012. http://www.ibdgenetics.org/assets/ddw-cd-parkes.pdf

[pos]11a[/pos][11]. Franke A, McGovern DPB, Barrett JC, Wang K, Radford-Smith GL, et al. Genome-wide meta-analysis increases to 71 the number
of confirmed Crohn’s disease susceptibility loci. Nature Genetics. 2010; 42(12):1118-1126. Accessed November 2012. http://www2.massgeneral.org/bbs/gen2..._Paper%204.pdf

[pos]12a[/pos][12]. Antoniou AC, Kuchenbaecker KB, Soucy P, et al. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. Breast Cancer Research. 2012; 14(R33): 1-18. Accessed November 2012. http://breast-cancer-research.com/co...df/bcr3121.pdf

[pos]13a[/pos][13]. Couch FJ, Gaudet MM, Antoniou AC, et al. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev. 2012; 21(4): 645-657. http://www.ncbi.nlm.nih.gov/pmc/arti...ihms347818.pdf

[pos]14a[/pos][14]. Haritunias T, Jones MR, McGovern DPB, et al. Variants in ZNF365 isoform D are associated with Crohn’s Disease. Gut. 2011; 60(8): 1060-1067. http://www.ncbi.nlm.nih.gov/pmc/arti...ihms332984.pdf

[pos]15a[/pos][15]. Gianfrancesco F, Esposito T, Ombra MN, et al. Identification of a Novel Gene and a Common Variant Associated with Uric Acid Nephrolithiasis in a Sardinian Genetic Isolate. AJHG. 2003; 72(6): 1479-1491. http://www.sciencedirect.com/science...02929707604479

[pos]16a[/pos][16]. Prager M, Buttner J, Haas V, Baumgart DC, Sturn A, Zeitz M, Buning C. The JAK2 variant rs10758669 in Crohn’s disease: altering the intestinal barrier as one mechanism of action. Int J Colorectal Dis. Clin and Mol Gastroenterol and Surg. 2012; 27(5): 565-573. http://www.springerlink.com/content/...1/fulltext.pdf

[pos]17a[/pos][17]. http://www.amgen.com

[pos]18a[/pos][18]. http://www.astrazeneca-us.com/home

[pos]19a[/pos][19]. http://www.novartis.com

[pos]20a[/pos][20]. http://www.lilly.com

[pos]21a[/pos][21]. http://www.pfizer.com

Popular Threads Discussing Genes and IBD



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07-09-2012, 12:57 AM   #1
David
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Holy crap.
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It's good to be back
07-09-2012, 12:12 PM   #2
Judith
 
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Agreed. The list is not exhaustive....... but just looking at it is exhausting.
11-11-2012, 06:28 PM   #3
cyborg1939
 
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Thanks.....very usefull info. Appreciated.............
11-12-2012, 12:15 AM   #4
Judith
 
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Thank you. I appreciate it!
11-12-2012, 02:19 AM   #5
Clash
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Oh my! This is wow... Thanks Judith, this is fantastic!
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11-14-2012, 05:01 PM   #6
Judith
 
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thanks!
11-14-2012, 11:33 PM   #7
cyborg1939
 
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Another aspect of the Premetheus testing that we need to learn more of goes like this:

What are the possible FALSE POSITIVES for the Genetic portion of the testing, and even the P-Anca portion ( and etc results) for patients who have various other conditions, e.g. psoriasis, atopy, and sundry autoimmune diseases??
11-15-2012, 12:06 AM   #8
Judith
 
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good point. Thanks!
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