Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Inflammatory bowel disease (Crohn disease) 1

OMIM:266600
Mode of inheritance:Multifactorial
Disease classification:Diseases of the digestive system


Polymorphisms

Gene symbolNOD2
Reference transcriptNM_022162.1
DNA Changec.2722G>C
A.A. Changep.Gly908Arg
Exon/Intronexon 8
Variation Typesubstitution
Cases101 patients with CD (59 women/ 42 men)
Controls107 healthy controls ( 55 men and 52 women)
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Gly189 (93.57%)208 (97.2%)
Arg13 (6.43%) 06 (2.80%) 2.37 (0.823-7.793)0.099
Gly/Gly90 (89.2%)101 (94.4%)
Gly/Arg9 (8.91%)6 (50.60%)
Arg/Arg2 (1.98%)0
CommentsNo association of NOD2/p.Gly908Arg variant with Crohns disease.
ReferenceHama I, Ratbi I, Reggoug S, Elkerch F, Kharrasse G, Errabih I, Ouazzani H, Sefiani A. Non-association of Crohns disease with NOD2 gene variants in Moroccan patients.
Gene. 2012 May 10;499(1):121-3.

Gene symbolNOD2
Reference transcriptNM_022162.1
DNA Changec.2722G>C
A.A. Changep.Gly908Arg
Exon/Intronexon 8
Variation Typesubstitution
Cases69 with Crohn’s disease
Controls114 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G97.1%99.1%1
C2.9%0.9%3.37 (0.61-18.67)0.16
GG94.2%98.2%1
GC5.8%1.8%3.45 (0.61-19.34)0.16
ReferenceSerbati N, Badre W, Diakite B, Nadifi S.NOD2/CARD15 gene influences disease behaviour but not IBD susceptibility in a Moroccan population.
Turk J Gastroenterol. 2014 Dec;25 Suppl 1:122-8.

Gene symbolNOD2
Reference transcriptNM_022162.1
DNA Changec.3017_3018insC
A.A. Changep.Leu1007ProfsX2
Exon/Intronexon 11
Variation Typeinsertion
Reference SNPrs5743293
Cases101 patients with CD ( (59 women/ 42 men))
Controls107 healthy controls ( 55 men and 52 women)
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
WT200 (99.01%)214 (100%)
MT02 (0.99%)0INF (0.199-INF)
WT/WT99(98.02%)107(100%)
WT/MT2(1.98%)0
MT/MT00
CommentsNo association of NOD2/p.Leu1007fsinsC variant with Crohns disease
ReferenceHama I, Ratbi I, Reggoug S, Elkerch F, Kharrasse G, Errabih I, Ouazzani H, Sefiani A. Non-association of Crohns disease with NOD2 gene variants in Moroccan patients.
Gene. 2012 May 10;499(1):121-3.

Gene symbolNOD2
Reference transcriptNM_022162.1
DNA Changec.3017_3018insC
A.A. Changep.Leu1007ProfsX2
Exon/Intronexon 11
Variation Typeinsertion
Reference SNPrs5743293
Cases69 with Crohn’s disease
Controls114 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
WT98.6%99.6%1
MT1.4%0.4%0.34 (0.30-37.16)0.33
WT/WT97.1%99.1%1
WT/MT2.9%0.9%3.37 (0.30-37.91)0.32
ReferenceSerbati N, Badre W, Diakite B, Nadifi S.NOD2/CARD15 gene influences disease behaviour but not IBD susceptibility in a Moroccan population.
Turk J Gastroenterol. 2014 Dec;25 Suppl 1:122-8.

Gene symbolNOD2
Reference transcriptNM_022162.1
DNA Changec.2104C>T
A.A. Changep.Arg702Trp
Exon/Intronexon 4
Variation Typesubstitution
Cases101 patients with CD ( (59 women/ 42 men))
Controls107 healthy controls ( 55 men and 52 women)
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
Arg201 (99.51%)213 (99.54%)
Trp01 (0.49%)01 (0.46%)1.059 (0.013-83.516)
Arg/Arg100 (99%)106 (99.07%)
Arg/Trp1 (1%)1 (0.93%)
Trp/Trp00
CommentsNo association of NOD2/p.Arg702Trp variants with Crohns disease
ReferenceHama I, Ratbi I, Reggoug S, Elkerch F, Kharrasse G, Errabih I, Ouazzani H, Sefiani A. Non-association of Crohns disease with NOD2 gene variants in Moroccan patients.
Gene. 2012 May 10;499(1):121-3.

Gene symbolNOD2
Reference transcriptNM_022162.1
DNA Changec.2104C>T
A.A. Changep.Arg702Trp
Exon/Intronexon 4
Variation Typesubstitution
Cases27 with ulcerative colitis
Controls114 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C97.8%95.6%1
T2.2%4.4%0.48 (0.13-1.79)0.28
CC95.7%92.1%1
CT4.3%7%0.60 (0.15-2.33)0.46
TT0%0.9%0.52 (0.02-13.170.70
ReferenceSerbati N, Badre W, Diakite B, Nadifi S.NOD2/CARD15 gene influences disease behaviour but not IBD susceptibility in a Moroccan population.
Turk J Gastroenterol. 2014 Dec;25 Suppl 1:122-8.

Gene symbolNOD2
Reference transcriptNM_022162.1
DNA Changec.2104C>T
A.A. Changep.Arg702Trp
Exon/Intronexon 4
Variation Typesubstitution
Cases69 with Crohn’s disease
Controls114 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C98.1%95.6%1
T1.9%4.4%0.4 (0.05-3.28)0.40
CC96.3%92.1%1
CT3.7%7%0.50 (0.06-4.21)0.53
TT0%0.9%1.33 (0.05-33.51)0.86
ReferenceSerbati N, Badre W, Diakite B, Nadifi S.NOD2/CARD15 gene influences disease behaviour but not IBD susceptibility in a Moroccan population.
Turk J Gastroenterol. 2014 Dec;25 Suppl 1:122-8.

Gene symbolNOD2
Reference transcriptNM_022162.1
DNA Changec.2105G>C
A.A. Changep.Arg702Pro
Exon/Intronexon4
Variation Typesubstitution
Cases101 patients with CD ( (59 women/ 42 men))
Controls107 healthy controls ( 55 men and 52 women)
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C5 (1.9%) 5 (1.9%)
CommentsNo association was observed
ReferenceHama I, Ratbi I, Reggoug S, Elkerch F, Kharrasse G, Errabih I, Ouazzani H, Sefiani A. Non-association of Crohns disease with NOD2 gene variants in Moroccan patients.
Gene. 2012 May 10;499(1):121-3.

Gene symbolNOD2
Reference transcriptNM_022162.1
DNA Changec.2753C>A
A.A. Changep.Ala918Asp
Exon/Intronexon8
Variation Typesubstitution
Cases101 patients with CD ( (59 women/ 42 men))
Controls107 healthy controls ( 55 men and 52 women)
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C201 (99.5%)214 (100%)
A1 (0.5%)0
CommentsNo association was observed.
ReferenceHama I, Ratbi I, Reggoug S, Elkerch F, Kharrasse G, Errabih I, Ouazzani H, Sefiani A. Non-association of Crohns disease with NOD2 gene variants in Moroccan patients.
Gene. 2012 May 10;499(1):121-3.

Gene symbolTLR4
Reference transcriptNM_138554.4
DNA Changec.896A>G
A.A. Changep.Asp299Gly
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs4986790
Cases83 with Crohn’s disease
Controls112
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G5.4%4.5%1.23 (0.49-3.09)0.66
AG10.8%7.1%1.57 (0.58-4.25)0.38
ReferenceSenhaji N, Diakité B, Serbati N, Zaid Y, Badre W, Nadifi S.Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms: New data and a meta-analysis.
BMC Gastroenterol. 2014 Dec 10;14:206.

Gene symbolTLR4
Reference transcriptNM_138554.4
DNA Changec.896A>G
A.A. Changep.Asp299Gly
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs4986790
Cases34 with ulcerative colitis
Controls112
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
G8.8%4.5%2.07 (0.72-5.92)0.17
AG17.6%7.1%2.76 (0.88-8.61)0.08
ReferenceSenhaji N, Diakité B, Serbati N, Zaid Y, Badre W, Nadifi S.Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms: New data and a meta-analysis.
BMC Gastroenterol. 2014 Dec 10;14:206.

Gene symbolTLR4
Reference transcriptNM_138554.4
DNA Changec.1196C>T
A.A. Changep.Thr399Ile
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs4986791
Cases83 with Crohn’s disease
Controls112
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T4.2%1.3%3.24 (0.83-12.74)0.09
CT8.4%2.7%3.35 (0.84-13.35)0.09
ReferenceSenhaji N, Diakité B, Serbati N, Zaid Y, Badre W, Nadifi S.Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms: New data and a meta-analysis.
BMC Gastroenterol. 2014 Dec 10;14:206.

Gene symbolTLR4
Reference transcriptNM_138554.4
DNA Changec.1196C>T
A.A. Changep.Thr399Ile
Exon/Intronexon 3
Variation Typesubstitution
Reference SNPrs4986791
Cases34 with ulcerative colitis
Controls112
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
T4.4%1.3%3.4 (0.67-17.25)0.14
CT2.9%2.7%1.14 (0.11-11.29)0.91
TT2.9%-10.11 (0.40-254.1)0.16
ReferenceSenhaji N, Diakité B, Serbati N, Zaid Y, Badre W, Nadifi S.Toll-like receptor 4 Asp299Gly and Thr399Ile polymorphisms: New data and a meta-analysis.
BMC Gastroenterol. 2014 Dec 10;14:206.

Gene symbolMTHFR
Reference transcriptNM_005957.4
DNA Changec.665C>T (C677T)
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases68 with Crohn’s disease
Controls182 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C69.9%72.8%1
T30.1%27.2%1.16 (0.75-1.78)0.51
CC48.5%51.6%1
CT42.6%42.83%1.07 (0.60-1.92)0.81
TT8.8%6.0%1.55 (0.53-4.53)0.42
ReferenceSenhaji N, Serbati N, Diakité B, Arazzakou S, Hamzi K, Badre W, Nadifi S.Methylenetetrahydrofolate reductase C677T variant in Moroccan patients with inflammatory bowel disease.
Gene. 2013 May 25;521(1):45-9.

Gene symbolMTHFR
Reference transcriptNM_005957.4
DNA Changec.665C>T (C677T)
A.A. Changep.Ala222Val
Exon/Intronexon 4
Variation Typesubstitution
Reference SNPrs1801133
Cases28 with ulcerative colitis
Controls182 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C78.6%72.8%1
T21.4%27.2%0.73 (0.37-1.44)0.36
CC60.7%51.6%1
CT35.7%42.83%0.72 (0.31-1.66)0.44
TT3.6%6.0%0.50 (0.06-4.15)0.52
ReferenceSenhaji N, Serbati N, Diakité B, Arazzakou S, Hamzi K, Badre W, Nadifi S.Methylenetetrahydrofolate reductase C677T variant in Moroccan patients with inflammatory bowel disease.
Gene. 2013 May 25;521(1):45-9.

Gene symbolMIF
Reference transcriptNM_002415.1
DNA Changec.-270G>C
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs755622
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
C103160
G2954561.00 (0.75-1.33)0.97
CC9 (4.52%)22 (7.14%)
CG85 (42.71%)116 (37.66%)1.10 (0.77-1.57) (Dominant)0.59
GG105 (52.76%)170 (55.19%)0.61 (0.27-1.36) (Recessive)0.23
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.

Gene symbolTNF
Reference transcriptNM_000594.3
DNA Changec.-488G>A
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs1800629
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
A81103
G3175131.27 (0.92-1.76)0.14
AA15 (7.54%)6 (1.95%)
AG51 (25.63%)91 (29.55%)1.07 (0.73-1.57) (Dominant)0.69
GG133 (66.83%)211 (68.51%)4.10 (1.56-10.76) (Recessive)0.004
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.

Gene symbolIL6
Reference transcriptNM_000600.4
DNA Changec.324+147C>G
A.A. Change
Exon/Intronintron 3
Variation Typesubstitution
Reference SNPrs2069840
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG11 (5.64%)19 (6.38%)
GC67 (34.36%)113 (37.92%)1.83 (0.58-1.21) (Dominant)0.34
CC117 (60.00%)166 (55.70%)0.87 (0.40-1.88) (Recessive)0.73
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.

Gene symbolIL6R
Reference transcriptNM_000565.3
DNA Changec.1073A>C
A.A. Changep.Asp358Ala
Exon/Intronexon 9
Variation Typesubstitution
Reference SNPrs2228145
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC20 (10.15%)33 (10.89%)
CA85 (43.15%)125 (41.25%)1.04 (0.73-1.5) (Dominant)0.80
AA92 (46.70%)145 (47.85%)0.92 (0.51-1.66) (Recessive)0.79
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.

Gene symbolIL6ST
Reference transcriptNM_001190981.1
DNA Changec.442G>C
A.A. Changep.Gly148Arg
Exon/Intronexon 5
Variation Typesubstitution
Reference SNPrs2228044
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC9 (4.64%)15 (4.82%)
CG58 (29.90%)109 (35.05%)0.79 (0.54-1.15) (Dominant)0.22
GG127 (65.46%)187 (60.13%)0.96 (0.41-2.23) (Recessive)0.92
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.

Gene symbolIL17A
Reference transcriptNM_002190.2
DNA Changec.-197G>A
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs2275913
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG5 (2.75%)10 (3.46%)
GA48 (26.37%)74 (25.61%)1.00 (0.66-1.50) (Dominant)0.98
AA129 (70.88%)205 (70.93%)0.78 (0.26-2.34) (Recessive)0.66
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.

Gene symbolIL17A
Reference transcriptNM_002190.2
DNA Changec.-877A>G
A.A. Change
Exon/Intron5' of the ATG codon
Variation Typesubstitution
Reference SNPrs4711998
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG32 (17.58%)44 (15.22%)
GA77 (42.31%)132 (45.67%)0.95 (0.65-1.40) (Dominant)0.82
AA73 (40.11%)113 (39.10%)1.18 (0.72-1.95) (Recessive)0.49
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.

Gene symbolIL17A
Reference transcriptNM_002190.2
DNA Changec.*159G>A
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs7747909
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
AA2 (1.10%)6 (2.08%)
AG50 (27.47%)67 (23.18%)1.18 (0.78-1.79) (Dominant)0.42
GG130 (71.43%)216 (74.74%)0.52 (0.1-2.62) (Recessive)0.43
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.

Gene symbolIL17A
Reference transcriptNM_002190.2
DNA Changec.-737C>T
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs8193036
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
CC6 (3.30%)15 (5.19%)
CT63 (34.62%)111 (38.41%)0.78 (0.54-1.15) (Dominant)0.22
TT113 (62.09%)163 (56.40%)0.62 (0.23-1.63) (Recessive)0.33
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.

Gene symbolIL17A
Reference transcriptNM_002190.2
DNA Changec.-444A>G
A.A. Change
Exon/Intron3' of the stop codon
Variation Typesubstitution
Reference SNPrs3819024
Cases199 IBD patients
Controls311 healthy controls
Frequency
Allele/GenotypeFrequency in casesFrequency in controlsOR (95%CI)P-value
GG6 (3.30%)20 (6.92%)
GA60 (32.97%)88 (30.45%)0.95 (0.64-1.40) (Dominant)0.80
AA116 (63.74%)181 (62.63%)0.45 (0.18-1.16) (Recessive)0.10
ReferenceSenhaji N, Serrano A, Badre W, Serbati N, Karkouri M, Zaid Y, Nadifi S, Martin J. Association of inflammatory cytokine gene polymorphisms with inflammatory bowel disease in a Moroccan cohort.
Genes Immun. 2016 Jan-Feb;17(1):60-5. doi: 10.1038/gene.2015.52. Epub 2015 Dec 3.