MDM2
Gene name: Mdm2, p53 E3 ubiquitin protein ligase homolog (mouse)
OMIM ID: 164785 Chromosome location: 12q15
Polymorphisms
| Disease/Phenotype | hepatocellular carcinoma, susceptibility to |
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| Reference transcript | NM_002392.4 |
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| DNA Change | c.14+309T>G |
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| A.A. Change | |
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| Exon/Intron | Intron1 |
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| Variation Type | substitution |
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| Reference SNP | rs2279744 |
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| Cases | 96 cases with HCC |
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| Controls | 222 controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| T | 0.65 | 0.74 | 1 | | | G | 0.35 | 0.26 | 1.56 (1.09-2.26) | 0.014 | | TT | 39 (40.62%) | 120 (54.04%) | 1 | | | TG | 46 (47.92%) | 89 (40.09%) | 1.59 (0.96-2.64) | 0.071 | | GG | 11 (11.46%) | 13 (5.85%) | 2.60 (1.08-6.28) | 0.029 | | TG+GG | 57 (59.37%) | 102 (45.94%) | 1.72 (1.06-2.79) | 0.027 |
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| Reference | Ezzikouri S, El Feydi AE, Afifi R, El Kihal L, Benazzouz M, Hassar M, Marchio A, Pineau P, Benjelloun S.MDM2 SNP309T>G polymorphism and risk of hepatocellular carcinoma: a case-control analysis in a Moroccan population.
Cancer Detect Prev. 2009;32(5-6):380-5. |
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| Disease/Phenotype | Mycobacterium tuberculosis, susceptibility to |
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| Reference transcript | NM_001145339.2 |
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| DNA Change | c.14+285G>C |
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| A.A. Change | |
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| Exon/Intron | intron 1 |
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| Variation Type | substitution |
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| Reference SNP | rs117039649 |
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| Cases | 119 HCC patients |
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| Controls | 103 controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| GG | 96.6% | 98% | 1 | | | GC | 3.4% | 2% | 1.757 (0.315-9.793) | 0.688 | | CC | 0% | 0% | - | - |
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| Reference | Rebbani K, Ezzikouri S, Marchio A, Kandil M, Pineau P, Benjelloun S.
MDM2 285G>C and 344T>A gene variants and their association with hepatocellular carcinoma: a Moroccan case-control study.
Infect Agent Cancer. 2014 Apr 7;9(1):11. |
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| Disease/Phenotype | Mycobacterium tuberculosis, susceptibility to |
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| Reference transcript | NM_001145339.2 |
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| DNA Change | c.14+344T>A |
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| A.A. Change | |
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| Exon/Intron | intron 1 |
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| Variation Type | substitution |
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| Reference SNP | rs1196333 |
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| Cases | 119 HCC patients |
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| Controls | 103 controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| TA | 7.6% | 7.8% | 1.118 (0.020-62.734) | 1 |
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| Reference | Rebbani K, Ezzikouri S, Marchio A, Kandil M, Pineau P, Benjelloun S.
MDM2 285G>C and 344T>A gene variants and their association with hepatocellular carcinoma: a Moroccan case-control study.
Infect Agent Cancer. 2014 Apr 7;9(1):11. |
|---|
| Disease/Phenotype | Mycobacterium tuberculosis, susceptibility to |
|---|
| Reference transcript | NM_001145339.2 |
|---|
| DNA Change | c.14+309T>G |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 1 |
|---|
| Variation Type | substitution |
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| Reference SNP | rs2279744 |
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| Cases | 119 HCC patients |
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| Controls | 103 controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| T | 69.7% | 77.7% | 1 | | | G | 30.3 | 22.3% | 1.48 (0.96-2.27) | 0.073 |
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| Reference | Rebbani K, Ezzikouri S, Marchio A, Kandil M, Pineau P, Benjelloun S.
MDM2 285G>C and 344T>A gene variants and their association with hepatocellular carcinoma: a Moroccan case-control study.
Infect Agent Cancer. 2014 Apr 7;9(1):11. |
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