Mycobacterium tuberculosis, susceptibility to
OMIM:607948Mode of inheritance:Multifactorial
Disease classification:Certain infectious and parasitic diseases
Polymorphisms
| Gene symbol | PTPN22 |
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| Reference transcript | NM_015967.5 |
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| DNA Change | c.1858C>T |
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| A.A. Change | p.Arg565Gly |
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| Variation Type | substitution |
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| Reference SNP | rs2476601 |
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| Cases | 123 pulmonary TB patients |
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| Controls | 155 healthy controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 245 (99.59%) | 300 (96.78%) | 1 | | | T | 1 (0.41%) | 10 (3.22%) | 0.14 (0.01-0.93) | 0.01 | | CC | 122 (99.19%) | 145 (93.55%) | 1 | | | CT | 1 (0.81%) | 10 (6.45%) | 0.12 (0.01-0.92) | 0.01 | | TT | 0 | 0 | | |
|
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| Comments | The polymorphism C1858T may affect susceptibility to TB. |
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| Reference | Lamsyah H, Rueda B, Baassi L, Elaouad R, Bottini N, Sadki K, Martin J.
Association of PTPN22 gene functional variants with development of pulmonary tuberculosis in Moroccan population.
Tissue Antigens. 2009 Sep;74(3):228-32. |
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| Gene symbol | PTPN22 |
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| Reference transcript | NM_015967.5 |
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| DNA Change | c.788G>A |
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| A.A. Change | R263Q |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs33996649 |
|---|
| Cases | 123 pulmonary TB patients |
|---|
| Controls | 155 healthy controls |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 237 (96.35%) | 308 (99.35%) | 1 | | | A | 9 (3.65%) | 2 (0.65%) | 5.85 (1.17-39.55) | 0.01 | | GG | 114 (92.69) % | 153 (98.71%) | | | | GA | 9 (7.31%) | 2 (1.29%) | 6.04 (1.19-41.30) | 0.01 | | AA | 0 | 0 | | |
|
|---|
| Comments | The polymorphism G788A may affect susceptibility to TB. |
|---|
| Reference | Lamsyah H, Rueda B, Baassi L, Elaouad R, Bottini N, Sadki K, Martin J.
Association of PTPN22 gene functional variants with development of pulmonary tuberculosis in Moroccan population.
Tissue Antigens. 2009 Sep;74(3):228-32. |
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| Gene symbol | MIF |
|---|
| Reference transcript | NM_002415.1 |
|---|
| DNA Change | c.-270G>C |
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| A.A. Change | |
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| Exon/Intron | 5' of the ATG codon |
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| Variation Type | substitution |
|---|
| Reference SNP | rs755622 |
|---|
| Cases | 123 patients with PTB |
|---|
| Controls | 154 healthy controls |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 159 (64.63%) | 227 (73.7%) | 0.65 (0.450.95) | 0.02 | | C | 87 (35.37%) | 81 (26.3%) | 1.53 (1.052.24) | 0.02 | | GG | 21 (17.07%) | 9(5.84%) | | 0.003 | | GC | 45 (36.59%) | 36 (40.90%) | | 0.46 | | CC | 57 (46.34%) | 82 (53.25%) | 3.32 (1.378.19) | 0.25 |
|
|---|
| Comments | Statistically significant increase was found of the MIF ?173CC and MIF ?173C allele frequencies in PTB patients compared with healthy controls, |
|---|
| Reference | Sadki K, Lamsyah H, Rueda B, Akil E, Sadak A, Martin J, El Aouad R.
Analysis of MIF, FCGR2A and FCGR3A gene polymorphisms with susceptibility to pulmonary tuberculosis in Moroccan population.
J Genet Genomics. 2010 Apr;37(4):257-64. |
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| Gene symbol | FCGR2A |
|---|
| Reference transcript | NM_001136219.1 |
|---|
| DNA Change | c.500A>G |
|---|
| A.A. Change | p.His167Arg |
|---|
| Exon/Intron | exon 4 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1801274 |
|---|
| Cases | 120 pulmonary TB patients |
|---|
| Controls | 150 healthy controls |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| H | 134 (55.83%) | 169 (56.3%) | | 0.9 | | R | 106 (44.17%) | 131 (43.67%) | | 0.9 | | HH | 37 (30.83%) | 49 (32.67%) | | 0.74 | | HR | 60 (50.00%) | 71 (74.33%) | | 0.66 | | RR | 23 (19.17%) | 30 (20.00%) | | 0.86 |
|
|---|
| Comments | No association was observed between FCGR2A-131H/R polymorphisms and Pulmonary Tuberculosis, |
|---|
| Reference | Sadki K, Lamsyah H, Rueda B, Akil E, Sadak A, Martin J, El Aouad R.
Analysis of MIF, FCGR2A and FCGR3A gene polymorphisms with susceptibility to pulmonary tuberculosis in Moroccan population.
J Genet Genomics. 2010 Apr;37(4):257-64. |
|---|
| Gene symbol | FCGR3A |
|---|
| Reference transcript | NM_001127593.1 |
|---|
| DNA Change | c.526T>G |
|---|
| A.A. Change | p.Phe176Val |
|---|
| Exon/Intron | exon 5 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs396991 |
|---|
| Cases | 119 pulmonary TB patients |
|---|
| Controls | 146 healthy controls |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| V | 147 (61.76%) | 185 (63.36%) | | 0.7 | | F | 91 (38.24%) | 107 (36.64%) | | 0.7 | | VV | 48 (40.33%) | 63 (43.15%) | | 0.64 | | VF | 51 (42.86%) | 59 (40.41%) | | 0.68 | | FF | 20 (16.81%) | 21 (16.44%) | | 0.93 |
|
|---|
| Comments | No association was observed between FCGR3A-158V/F polymorphisms and Pulmonary Tuberculosis. |
|---|
| Reference | Sadki K, Lamsyah H, Rueda B, Akil E, Sadak A, Martin J, El Aouad R.
Analysis of MIF, FCGR2A and FCGR3A gene polymorphisms with susceptibility to pulmonary tuberculosis in Moroccan population.
J Genet Genomics. 2010 Apr;37(4):257-64. |
|---|
| Gene symbol | CCL2 |
|---|
| Reference transcript | NG_012123.1 |
|---|
| DNA Change | g.2493A>G |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 5' of the ATG codon |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1024611 |
|---|
| Cases | 337 pulmonary TB patients |
|---|
| Controls | 155 healthy controls |
|---|
| Ethnic origin | cases and controls were from either Arab or Berber |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | 528 (78%) | 298 (73%) | 1.33 (0.99-1.79) | | | G | 146 (22%) | 110 (27%) | 0.75 (0.56-1.01) | | | AA | 200 (59%) | 109 (54%) | 1.27 (0.88-1.83) | 0.178 | | AG | 128 (38%) | 80 (39%) | 0.95 (0.65-1.83) | 0.775 | | GG | 09 (03%) | 15 (07%) | 0.35 (0.13-0.86) | 0.016 |
|
|---|
| Comments | The genoytype GG of the MCP-1 polymorphism was significantly more prevalent in healthy controls than in TB patients. The association between the MCP-1 polymorphism and protection against PTB was found. |
|---|
| Reference | Arji N, Busson M, Iraqi G, Bourkadi JE, Benjouad A, Boukouaci W, Lahlou O, Ben Amor J, Krishnamoorthy R, Charron D, El Aouad R, Tamouza R.
The MCP-1 (CCL2) -2518 GG genotype is associated with protection against pulmonary tuberculosis in Moroccan patients.
J Infect Dev Ctries. 2012 Jan 12;6(1):73-8. |
|---|
| Gene symbol | IL12B |
|---|
| Reference transcript | NM_002187.2 |
|---|
| DNA Change | c.*159A>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 3' of the stop codon |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs3212227 |
|---|
| Cases | 337 pulmonary TB patients |
|---|
| Controls | 204 healthy controls |
|---|
| Ethnic origin | cases and controls were from either Arab or Berber |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | 67% | 70% | | | | C | 33% | 30% | | | | AA | 45% | 51% | | | | AC | 44% | 38% | | | | CC | 11% | 11% | | |
|
|---|
| Comments | No association was observed. |
|---|
| Reference | Arji N, Busson M, Iraqi G, Bourkadi JE, Benjouad A, Boukouaci W, Lahlou O, Ben Amor J, Krishnamoorthy R, Charron D, El Aouad R, Tamouza R.
The MCP-1 (CCL2) -2518 GG genotype is associated with protection against pulmonary tuberculosis in Moroccan patients.
J Infect Dev Ctries. 2012 Jan 12;6(1):73-8. |
|---|
| Gene symbol | IL12RB1 |
|---|
| Reference transcript | NM_005535.1 |
|---|
| DNA Change | c.-111A>T |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 5' of the ATG codon |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs393548 |
|---|
| Cases | 101 Moroccan families, including 157 offspring (age, >15 years) |
|---|
| Controls | |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| T | 0.12 | | | |
|
|---|
| Comments | The promoter polymorphism -111A>T was found to be associated with PTB: P=0.19 and OR(AT/TT vs AA)=2.03(1.03?4.03). |
|---|
| Reference | Remus N, El Baghdadi J, Fieschi C, Feinberg J, Quintin T, Chentoufi M, Schurr E, Benslimane A, Casanova JL, Abel L.Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
J Infect Dis. 2004 Aug 1;190(3):580-7. |
|---|
| Gene symbol | IL12RB1 |
|---|
| Reference transcript | NM_005535.1 |
|---|
| DNA Change | c.-2C>T |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 5' of the ATG codon |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs436857 |
|---|
| Cases | 101 Moroccan families, including 157 offspring (age, >15 years) |
|---|
| Controls | |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| T | 0.10 | | | |
|
|---|
| Comments | The promoter polymorphism -2C>T was found to be associated with PTB: P=0.13 and OR(CT/TT vs CC)= 2.69(1.19?6.09). |
|---|
| Reference | Remus N, El Baghdadi J, Fieschi C, Feinberg J, Quintin T, Chentoufi M, Schurr E, Benslimane A, Casanova JL, Abel L.Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
J Infect Dis. 2004 Aug 1;190(3):580-7. |
|---|
| Gene symbol | IL12RB1 |
|---|
| Reference transcript | NM_005535.1 |
|---|
| DNA Change | c.387G>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | exon 4 |
|---|
| Variation Type | substitution |
|---|
| Cases | 101 Moroccan families, including 157 offspring (age, >15 years) |
|---|
| Controls | |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.13 | | | |
|
|---|
| Comments | No association was observed between 387G>C polymorphism and Pulmonary Tuberculosis, |
|---|
| Reference | Remus N, El Baghdadi J, Fieschi C, Feinberg J, Quintin T, Chentoufi M, Schurr E, Benslimane A, Casanova JL, Abel L.Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
J Infect Dis. 2004 Aug 1;190(3):580-7. |
|---|
| Gene symbol | IL12RB1 |
|---|
| Reference transcript | NM_005535.1 |
|---|
| DNA Change | 409+21C>A |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 4 |
|---|
| Variation Type | substitution |
|---|
| Cases | 101 Moroccan families, including 157 offspring (age, >15 years) |
|---|
| Controls | |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | 0.06 | | | |
|
|---|
| Comments | No association was observed between 409+21C>A polymorphism and Pulmonary Tuberculosis, |
|---|
| Reference | Remus N, El Baghdadi J, Fieschi C, Feinberg J, Quintin T, Chentoufi M, Schurr E, Benslimane A, Casanova JL, Abel L.Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
J Infect Dis. 2004 Aug 1;190(3):580-7. |
|---|
| Gene symbol | IL12RB1 |
|---|
| Reference transcript | NM_005535.1 |
|---|
| DNA Change | c.467G>A |
|---|
| A.A. Change | p.Arg156His |
|---|
| Exon/Intron | exon 5 |
|---|
| Variation Type | substitution |
|---|
| Cases | 101 Moroccan families, including 157 offspring (age, >15 years) |
|---|
| Controls | |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | 0.10 | | | |
|
|---|
| Comments | No association was observed between 467G>A polymorphism and Pulmonary Tuberculosis, |
|---|
| Reference | Remus N, El Baghdadi J, Fieschi C, Feinberg J, Quintin T, Chentoufi M, Schurr E, Benslimane A, Casanova JL, Abel L.Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
J Infect Dis. 2004 Aug 1;190(3):580-7. |
|---|
| Gene symbol | IL12RB1 |
|---|
| Reference transcript | NM_005535.1 |
|---|
| DNA Change | c.641A>G |
|---|
| A.A. Change | p.Gln214Arg |
|---|
| Exon/Intron | exon 7 |
|---|
| Variation Type | substitution |
|---|
| Cases | 101 Moroccan families, including 157 offspring (age, >15 years) |
|---|
| Controls | |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 0.24 | | | |
|
|---|
| Comments | No association was observed between 641A>G polymorphism and Pulmonary Tuberculosis, |
|---|
| Reference | Remus N, El Baghdadi J, Fieschi C, Feinberg J, Quintin T, Chentoufi M, Schurr E, Benslimane A, Casanova JL, Abel L.Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
J Infect Dis. 2004 Aug 1;190(3):580-7. |
|---|
| Gene symbol | IL12RB1 |
|---|
| Reference transcript | NM_005535.1 |
|---|
| DNA Change | c.1094T>C |
|---|
| A.A. Change | p.Met365Thr |
|---|
| Exon/Intron | exon 10 |
|---|
| Variation Type | substitution |
|---|
| Cases | 101 Moroccan families, including 157 offspring (age, >15 years) |
|---|
| Controls | |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.26 | | | |
|
|---|
| Comments | No association was observed between 1094T>C polymorphism and Pulmonary Tuberculosis, |
|---|
| Reference | Remus N, El Baghdadi J, Fieschi C, Feinberg J, Quintin T, Chentoufi M, Schurr E, Benslimane A, Casanova JL, Abel L.Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
J Infect Dis. 2004 Aug 1;190(3):580-7. |
|---|
| Gene symbol | IL12RB1 |
|---|
| Reference transcript | NM_005535.1 |
|---|
| DNA Change | c.1791+46T>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 15 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs383483 |
|---|
| Cases | 101 Moroccan families, including 157 offspring (age, >15 years) |
|---|
| Controls | |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 0.46 | | | |
|
|---|
| Comments | No association was observed between 1791+46T>C polymorphism and Pulmonary Tuberculosis, |
|---|
| Reference | Remus N, El Baghdadi J, Fieschi C, Feinberg J, Quintin T, Chentoufi M, Schurr E, Benslimane A, Casanova JL, Abel L.Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
J Infect Dis. 2004 Aug 1;190(3):580-7. |
|---|
| Gene symbol | IL12RB1 |
|---|
| Reference transcript | NM_005535.1 |
|---|
| DNA Change | c.1983+24C>T |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 16 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs17882555 |
|---|
| Cases | 101 Moroccan families, including 157 offspring (age, >15 years) |
|---|
| Controls | |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| T | 0.24 | | | |
|
|---|
| Comments | No association was observed between 1983+24C>T polymorphism and Pulmonary Tuberculosis, |
|---|
| Reference | Remus N, El Baghdadi J, Fieschi C, Feinberg J, Quintin T, Chentoufi M, Schurr E, Benslimane A, Casanova JL, Abel L.Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in Morocco.
J Infect Dis. 2004 Aug 1;190(3):580-7. |
|---|
| Gene symbol | STAT4 |
|---|
| Reference transcript | NM_001243835.1 |
|---|
| DNA Change | c.1251+3543A>T |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 14 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1400654 |
|---|
| Cases | 300 |
|---|
| Controls | 624 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | 77% | 78% | | >0.5 |
|
|---|
| Reference | Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.
J Infect Dis. 2014 Aug 15;210(4):611-8. |
|---|
| Gene symbol | STAT4 |
|---|
| Reference transcript | NM_001243835.1 |
|---|
| DNA Change | c.274-32512T>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 3 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs6752770 |
|---|
| Cases | 300 |
|---|
| Controls | 624 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | 64% | 66% | | >0.5 |
|
|---|
| Reference | Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.
J Infect Dis. 2014 Aug 15;210(4):611-8. |
|---|
| Gene symbol | STAT4 |
|---|
| Reference transcript | NM_001243835.1 |
|---|
| DNA Change | c.273+1150A>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 3 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1031509 |
|---|
| Cases | 300 |
|---|
| Controls | 624 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 57% | 55% | | 0.25 |
|
|---|
| Reference | Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.
J Infect Dis. 2014 Aug 15;210(4):611-8. |
|---|
| Gene symbol | STAT4 |
|---|
| Reference transcript | NM_001243835.1 |
|---|
| DNA Change | c.-2+988T>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 1 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs7572482 |
|---|
| Cases | 300 |
|---|
| Controls | 624 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 52% | 47% | | 0.036 |
|
|---|
| Reference | Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.
J Infect Dis. 2014 Aug 15;210(4):611-8. |
|---|
| Gene symbol | STAT4 |
|---|
| Reference transcript | NM_001243835.1 |
|---|
| DNA Change | c.-1713A>G |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 5' of the ATG codon |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs897200 |
|---|
| Cases | 300 |
|---|
| Controls | 624 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 51% | 46% | | 0.03 |
|
|---|
| Reference | Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.
J Infect Dis. 2014 Aug 15;210(4):611-8. |
|---|
| Gene symbol | TLR2 |
|---|
| Reference transcript | NM_003264.3 |
|---|
| DNA Change | c.597T>C |
|---|
| A.A. Change | p.Asn199Asn |
|---|
| Exon/Intron | exon 3 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs3804099 |
|---|
| Cases | 343 |
|---|
| Controls | 202 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| T | 55% | 55% | 0.96 (0.75-1.24) | | | C | 46% | 45% | 1.04 (0.80-1.34) | 0.770 | | TT | 29% | 25% | 1.25 (0.83-1.89) | 0.266 | | TC | 49% | 60% | 0.65 (0.45-0.94) | 0.016 | | CC | 22% | 15% | 1.52 (0.93-2.47) | 0.075 |
|
|---|
| Reference | Arji N, Busson M, Iraqi G, Bourkadi JE, Benjouad A, Bouayad A, Mariaselvam C, Salah S, Fortier C, Amokrane K, Marzais F, Boukouaci W, Krishnamoorthy R, Charron D, El Aouad R, Tamouza R.Genetic diversity of TLR2, TLR4, and VDR loci and pulmonary tuberculosis in Moroccan patients.
J Infect Dev Ctries. 2014 Apr 15;8(4):430-40. |
|---|
| Gene symbol | TLR4 |
|---|
| Reference transcript | NM_003266.3 |
|---|
| DNA Change | c.*1205G>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 3' of the stop codon |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs11536889 |
|---|
| Cases | 342 |
|---|
| Controls | 199 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 87% | 92% | 0.61 (0.39-0.95) | | | C | 13% | 8% | 1.63 (1.06-2.57) | 0.021 | | GG | 78% | 84% | 0.68 (0.42-1.10) | 0.100 | | GC | 18% | 15% | 1.20 (0.73-1.98) | 0.448 | | CC | 4% | 0.5% | 7.82 (1.06-161.44) | 0.040 |
|
|---|
| Reference | Arji N, Busson M, Iraqi G, Bourkadi JE, Benjouad A, Bouayad A, Mariaselvam C, Salah S, Fortier C, Amokrane K, Marzais F, Boukouaci W, Krishnamoorthy R, Charron D, El Aouad R, Tamouza R.Genetic diversity of TLR2, TLR4, and VDR loci and pulmonary tuberculosis in Moroccan patients.
J Infect Dev Ctries. 2014 Apr 15;8(4):430-40. |
|---|
| Gene symbol | MDM2 |
|---|
| Reference transcript | NM_001145339.2 |
|---|
| DNA Change | c.14+285G>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 1 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs117039649 |
|---|
| Cases | 119 HCC patients |
|---|
| Controls | 103 controls |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| GG | 96.6% | 98% | 1 | | | GC | 3.4% | 2% | 1.757 (0.315-9.793) | 0.688 | | CC | 0% | 0% | - | - |
|
|---|
| 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. |
|---|
| Gene symbol | MDM2 |
|---|
| Reference transcript | NM_001145339.2 |
|---|
| DNA Change | c.14+344T>A |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 1 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1196333 |
|---|
| Cases | 119 HCC patients |
|---|
| Controls | 103 controls |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| TA | 7.6% | 7.8% | 1.118 (0.020-62.734) | 1 |
|
|---|
| 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. |
|---|
| Gene symbol | MDM2 |
|---|
| Reference transcript | NM_001145339.2 |
|---|
| DNA Change | c.14+309T>G |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 1 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs2279744 |
|---|
| Cases | 119 HCC patients |
|---|
| Controls | 103 controls |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| T | 69.7% | 77.7% | 1 | | | G | 30.3 | 22.3% | 1.48 (0.96-2.27) | 0.073 |
|
|---|
| 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. |
|---|
| Gene symbol | CYP7A1 |
|---|
| Reference transcript | NM_000780.3 |
|---|
| DNA Change | c.-267C>A (-278 A>C) |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 5' of the ATG codon |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs3808607 |
|---|
| Cases | 136 |
|---|
| Controls | 138 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | 65% | 54% | 1 | | | C | 35% | 46% | 1.58 (1.04-2.41) | 0.025 | | AA | 43% | 28% | 1.94 (1.03-3.65) | 0.026 | | AC | 44% | 52% | | >0.05 | | CC | 13% | 20% | | >0.05 |
|
|---|
| Reference | Qrafli M, Amar Y, Bourkadi J, Ben Amor J, Iraki G, Bakri Y, Amzazi S, Lahlou O, Seghrouchni F, El Aouad R, Sadki K.
The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population.
Pan Afr Med J. 2014 May 1;18:1. |
|---|
| Gene symbol | CYP7A1 |
|---|
| Reference transcript | NC_000008.10 |
|---|
| DNA Change | g.59403576C>T (c.*458G>A) |
|---|
| A.A. Change | |
|---|
| Exon/Intron | 3' of the stop codon |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs8192879 |
|---|
| Cases | 136 |
|---|
| Controls | 138 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 72.79% | 75.72% | | >0.05 | | T | 27.21% | 24.28% | | >0.05 | | CC | 50.73% | 59.42% | | >0.05 | | CT | 44.11% | 32.6% | | >0.05 | | TT | 5.14% | 7.97% | | >0.05 |
|
|---|
| Reference | Qrafli M, Amar Y, Bourkadi J, Ben Amor J, Iraki G, Bakri Y, Amzazi S, Lahlou O, Seghrouchni F, El Aouad R, Sadki K.
The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population.
Pan Afr Med J. 2014 May 1;18:1. |
|---|
| Gene symbol | CYP7A1 |
|---|
| Reference transcript | NC_000008.10 |
|---|
| DNA Change | g.59407065C>T |
|---|
| A.A. Change | p.Asp347Asn |
|---|
| Exon/Intron | exon 4 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs8192875 |
|---|
| Cases | 136 |
|---|
| Controls | 138 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 100% | 100% | | >0.05 | | T | 0% | 0% | | >0.05 | | CC | 100% | 100% | | >0.05 | | CT | 0% | 0% | | >0.05 | | TT | 0% | 0% | | >0.05 |
|
|---|
| Reference | Qrafli M, Amar Y, Bourkadi J, Ben Amor J, Iraki G, Bakri Y, Amzazi S, Lahlou O, Seghrouchni F, El Aouad R, Sadki K.
The CYP7A1 gene rs3808607 variant is associated with susceptibility of tuberculosis in Moroccan population.
Pan Afr Med J. 2014 May 1;18:1. |
|---|