NOD2
Gene name: nucleotide-binding oligomerization domain containing 2
OMIM ID: 605956 Chromosome location: 16q12.1
Polymorphisms
| Disease/Phenotype | Inflammatory bowel disease (Crohn disease) 1 |
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| Reference transcript | NM_022162.1 |
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| DNA Change | c.2722G>C |
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| A.A. Change | p.Gly908Arg |
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| Exon/Intron | exon 8 |
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| Variation Type | substitution |
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| Cases | 101 patients with CD (59 women/ 42 men) |
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| Controls | 107 healthy controls ( 55 men and 52 women) |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| Gly | 189 (93.57%) | 208 (97.2%) | | | | Arg | 13 (6.43%) | 06 (2.80%) | 2.37 (0.823-7.793) | 0.099 | | Gly/Gly | 90 (89.2%) | 101 (94.4%) | | | | Gly/Arg | 9 (8.91%) | 6 (50.60%) | | | | Arg/Arg | 2 (1.98%) | 0 | | |
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| Comments | No association of NOD2/p.Gly908Arg variant with Crohns disease. |
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| Reference | Hama 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. |
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| Disease/Phenotype | Inflammatory bowel disease (Crohn disease) 1 |
|---|
| Reference transcript | NM_022162.1 |
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| DNA Change | c.2722G>C |
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| A.A. Change | p.Gly908Arg |
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| Exon/Intron | exon 8 |
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| Variation Type | substitution |
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| Cases | 69 with Crohn’s disease |
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| Controls | 114 healthy controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| G | 97.1% | 99.1% | 1 | | | C | 2.9% | 0.9% | 3.37 (0.61-18.67) | 0.16 | | GG | 94.2% | 98.2% | 1 | | | GC | 5.8% | 1.8% | 3.45 (0.61-19.34) | 0.16 |
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| Reference | Serbati 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. |
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| Disease/Phenotype | Inflammatory bowel disease (Crohn disease) 1 |
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| Reference transcript | NM_022162.1 |
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| DNA Change | c.3017_3018insC |
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| A.A. Change | p.Leu1007ProfsX2 |
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| Exon/Intron | exon 11 |
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| Variation Type | insertion |
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| Reference SNP | rs5743293 |
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| Cases | 101 patients with CD ( (59 women/ 42 men)) |
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| Controls | 107 healthy controls ( 55 men and 52 women) |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| WT | 200 (99.01%) | 214 (100%) | | | | MT | 02 (0.99%) | 0 | INF (0.199-INF) | | | WT/WT | 99(98.02%) | 107(100%) | | | | WT/MT | 2(1.98%) | 0 | | | | MT/MT | 0 | 0 | | |
|
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| Comments | No association of NOD2/p.Leu1007fsinsC variant with Crohns disease |
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| Reference | Hama 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. |
|---|
| Disease/Phenotype | Inflammatory bowel disease (Crohn disease) 1 |
|---|
| Reference transcript | NM_022162.1 |
|---|
| DNA Change | c.3017_3018insC |
|---|
| A.A. Change | p.Leu1007ProfsX2 |
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| Exon/Intron | exon 11 |
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| Variation Type | insertion |
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| Reference SNP | rs5743293 |
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| Cases | 69 with Crohn’s disease |
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| Controls | 114 healthy controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| WT | 98.6% | 99.6% | 1 | | | MT | 1.4% | 0.4% | 0.34 (0.30-37.16) | 0.33 | | WT/WT | 97.1% | 99.1% | 1 | | | WT/MT | 2.9% | 0.9% | 3.37 (0.30-37.91) | 0.32 |
|
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| Reference | Serbati 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. |
|---|
| Disease/Phenotype | Inflammatory bowel disease (Crohn disease) 1 |
|---|
| Reference transcript | NM_022162.1 |
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| DNA Change | c.2104C>T |
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| A.A. Change | p.Arg702Trp |
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| Exon/Intron | exon 4 |
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| Variation Type | substitution |
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| Cases | 101 patients with CD ( (59 women/ 42 men)) |
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| Controls | 107 healthy controls ( 55 men and 52 women) |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| Arg | 201 (99.51%) | 213 (99.54%) | | | | Trp | 01 (0.49%) | 01 (0.46%) | 1.059 (0.013-83.516) | | | Arg/Arg | 100 (99%) | 106 (99.07%) | | | | Arg/Trp | 1 (1%) | 1 (0.93%) | | | | Trp/Trp | 0 | 0 | | |
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| Comments | No association of NOD2/p.Arg702Trp variants with Crohns disease |
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| Reference | Hama 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. |
|---|
| Disease/Phenotype | Inflammatory bowel disease (Crohn disease) 1 |
|---|
| Reference transcript | NM_022162.1 |
|---|
| DNA Change | c.2104C>T |
|---|
| A.A. Change | p.Arg702Trp |
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| Exon/Intron | exon 4 |
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| Variation Type | substitution |
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| Cases | 27 with ulcerative colitis |
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| Controls | 114 healthy controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| C | 97.8% | 95.6% | 1 | | | T | 2.2% | 4.4% | 0.48 (0.13-1.79) | 0.28 | | CC | 95.7% | 92.1% | 1 | | | CT | 4.3% | 7% | 0.60 (0.15-2.33) | 0.46 | | TT | 0% | 0.9% | 0.52 (0.02-13.17 | 0.70 |
|
|---|
| Reference | Serbati 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. |
|---|
| Disease/Phenotype | Inflammatory bowel disease (Crohn disease) 1 |
|---|
| Reference transcript | NM_022162.1 |
|---|
| DNA Change | c.2104C>T |
|---|
| A.A. Change | p.Arg702Trp |
|---|
| Exon/Intron | exon 4 |
|---|
| Variation Type | substitution |
|---|
| Cases | 69 with Crohn’s disease |
|---|
| Controls | 114 healthy controls |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| C | 98.1% | 95.6% | 1 | | | T | 1.9% | 4.4% | 0.4 (0.05-3.28) | 0.40 | | CC | 96.3% | 92.1% | 1 | | | CT | 3.7% | 7% | 0.50 (0.06-4.21) | 0.53 | | TT | 0% | 0.9% | 1.33 (0.05-33.51) | 0.86 |
|
|---|
| Reference | Serbati 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. |
|---|
| Disease/Phenotype | Inflammatory bowel disease (Crohn disease) 1 |
|---|
| Reference transcript | NM_022162.1 |
|---|
| DNA Change | c.2105G>C |
|---|
| A.A. Change | p.Arg702Pro |
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| Exon/Intron | exon4 |
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| Variation Type | substitution |
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| Cases | 101 patients with CD ( (59 women/ 42 men)) |
|---|
| Controls | 107 healthy controls ( 55 men and 52 women) |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| C | 5 (1.9%) | 5 (1.9%) | | |
|
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| Comments | No association was observed |
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| Reference | Hama 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. |
|---|
| Disease/Phenotype | Inflammatory bowel disease (Crohn disease) 1 |
|---|
| Reference transcript | NM_022162.1 |
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| DNA Change | c.2753C>A |
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| A.A. Change | p.Ala918Asp |
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| Exon/Intron | exon8 |
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| Variation Type | substitution |
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| Cases | 101 patients with CD ( (59 women/ 42 men)) |
|---|
| Controls | 107 healthy controls ( 55 men and 52 women) |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 201 (99.5%) | 214 (100%) | | | | A | 1 (0.5%) | 0 | | |
|
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| Comments | No association was observed. |
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| Reference | Hama 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. |
|---|
| Disease/Phenotype | hepatocellular carcinoma, susceptibility to |
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| Reference transcript | NM_022162.1 |
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| DNA Change | c.47C>T |
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| A.A. Change | p.Ala16Val |
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| Exon/Intron | exon1 |
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| Variation Type | substitution |
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| Cases | 96 HCC patients |
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| Controls | 222 healthy controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| Val | 0.453 | 0.592 | | | | Ala | 0.547 | 0.408 | | | | Val/Val | 21(21.8%) | 81 (36.5%) | 1 | | | Val/Ala | 45 (46.8%) | 101 (45.5%) | 1.72 (0.95-3.11) | | | Ala/Ala | 30 (31.2%) | 40 (18%) | 2.89 (1.47-5.68) | |
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| Comments | The genotype Ala/Ala (SOD2- Ala16Val) was significantly higher in HCC patients compared with controls, |
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| Reference | Ezzikouri S, El Feydi AE, Chafik A, Afifi R, El Kihal L, Benazzouz M, Hassar M, Pineau P, Benjelloun S.
Genetic polymorphism in the manganese superoxide dismutase gene is associated with an increased risk for hepatocellular carcinoma in HCV-infected Moroccan patients.
Mutat Res. 2008 Jan 8;649(1-2):1-6. |
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