ABCB1
Gene name: ATP-binding cassette, sub-family B (MDR/TAP), member 1
OMIM ID: 171050 Chromosome location: 7q21.12
Polymorphisms
| Disease/Phenotype | Leukemia, chronic myeloid |
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| Reference transcript | NM_000927.4 |
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| DNA Change | c.1236T>C |
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| A.A. Change | p.Gly412Gly |
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| Exon/Intron | exon 13 |
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| Variation Type | substitution |
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| Reference SNP | rs1128503 |
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| Cases | 89 CML patients |
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| Controls | 99 unrelated 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 | 62.36% | 68.2% | 1 | | | T | 37.64% | 31.8% | 1.3 (0.8-1.9) | 0.28 | | CC | 44.9% | 43.4% | 1 | | | CT | 34.8% | 49.5% | 0.7 (0.4-1.3) | 0.225 | | TT | 20.3% | 7.1% | 2.7 (1-7.32) | 0.041 | | CT+TT | 55.1% | 56.6% | 0.9 (0.5-1.7) | 0.835 |
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| Reference | Yaya K, Hind D, Meryem Q, Asma Q, Said B, Sellama N.Single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) and risk of chronic myeloid leukemia.
Tumour Biol. 2014 Nov;35(11):10969-75. |
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| Disease/Phenotype | Leukemia, chronic myeloid |
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| Reference transcript | NM_000927.4 |
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| DNA Change | c.2677T>G (2677G>T/A) |
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| A.A. Change | p.Ser893Ala |
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| Exon/Intron | exon 22 |
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| Variation Type | substitution |
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| Reference SNP | rs2032582 |
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| Cases | 89 CML patients |
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| Controls | 99 unrelated 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 | 76.4% | 72.22% | 1 | | | T | 23.6% | 27.78% | 0.8 (0.5-1.3) | 0.406 | | GG | 59.6% | 48.5% | 1 | | | GT | 33.7% | 47.5% | 0.6 (0.32-1.1) | 0.074 | | TT | 6.7% | 4% | 1.36 (0.36-5.1) | 0.65 | | GT+TT | 40.4% | 51.5% | 0.64 (0.36-1.14) | 0.13 |
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| Reference | Yaya K, Hind D, Meryem Q, Asma Q, Said B, Sellama N.Single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) and risk of chronic myeloid leukemia.
Tumour Biol. 2014 Nov;35(11):10969-75. |
|---|
| Disease/Phenotype | Leukemia, chronic myeloid |
|---|
| Reference transcript | NM_000927.4 |
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| DNA Change | c.3435T>C |
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| A.A. Change | p.Ile1145Ile |
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| Exon/Intron | exon 27 |
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| Variation Type | substitution |
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| Reference SNP | rs1045642 |
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| Cases | 89 CML patients |
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| Controls | 99 unrelated 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 | 68% | 65.15% | 1 | | | T | 32% | 34.15% | 0.88 (0.57-1.35) | 0.591 | | CC | 50.6% | 39.4% | 1 | | | CT | 34.8% | 51.5% | 0.5 (0.3-1) | 0.042 | | TT | 14.6% | 9.1% | 1.25 (0.48-3.2) | 0.644 | | CT | 49.4% | 61.6% | 0.64 (0.36-1.13) | 0.125 |
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| Reference | Yaya K, Hind D, Meryem Q, Asma Q, Said B, Sellama N.Single nucleotide polymorphisms of multidrug resistance gene 1 (MDR1) and risk of chronic myeloid leukemia.
Tumour Biol. 2014 Nov;35(11):10969-75. |
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| Disease/Phenotype | Breast cancer, susceptibility to |
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| Reference transcript | NM_000927.4 |
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| DNA Change | c.3435T>C |
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| A.A. Change | p.(=) |
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| Exon/Intron | exon 27 |
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| Variation Type | substitution |
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| Reference SNP | rs1045642 |
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| Cases | 60 breast cancer patients |
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| Controls | 68 healthy women |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| C | 80 (66.7%) | 89 (65.4%) | 1 | | | T | 40 (33.3%) | 47 (34.6%) | 0.95 (0.56-1.59) | 0.84 | | CC | 30 (50.0%) | 28 (41.2%) | 1 | | | CT | 20 (33.3%) | 33 (48.5%) | 0.57 (0.27-1.21) | 0.14 | | TT | 10 (16.7%) | 7 (10.3%) | 1.33 (0.44-3.98) | 0.61 |
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| Reference | Tazzite A, Kassogue Y, Diakité B, Jouhadi H, Dehbi H, Benider A, Nadifi S.
Association between ABCB1 C3435T polymorphism and breast cancer risk: a Moroccan case-control study and meta-analysis.
BMC Genet. 2016 Sep 1;17(1):126. doi: 10.1186/s12863-016-0434-x. |
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| Disease/Phenotype | Inflammatory bowel disease 13 |
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| Reference transcript | NM_000927.4 |
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| DNA Change | c.1236T>C |
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| A.A. Change | p.Gly412Gly |
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| Exon/Intron | exon 13 |
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| Variation Type | substitution |
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| Reference SNP | rs1128503 |
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| Cases | 110 patients diagnosed with IBD |
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| Controls | 100 blood donors were used as controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| C | 145 | 135 | 1 | | | T | 75 | 65 | 1.07 (0.71-1.61) | |
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| Reference | Senhaji N, Kassogue Y, Fahimi M, Serbati N, Badre W, Nadifi S.
Genetic Polymorphisms of Multidrug Resistance Gene-1 (MDR1/ABCB1) and Glutathione S-Transferase Gene and the Risk of Inflammatory Bowel Disease among Moroccan Patients.
Mediators Inflamm. 2015;2015:248060. doi: 10.1155/2015/248060. Epub 2015 Oct 28. |
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| Disease/Phenotype | Inflammatory bowel disease 13 |
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| Reference transcript | NM_000927.4 |
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| DNA Change | c.3435T>C |
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| A.A. Change | p.(=) |
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| Exon/Intron | exon 27 |
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| Variation Type | substitution |
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| Reference SNP | rs1045642 |
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| Cases | 110 patients diagnosed with IBD |
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| Controls | 100 blood donors were used as controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| C | 145 | 67 | 1 | | | T | 75 | 53 | 0.65 (0.41-1.03) | |
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| Reference | Senhaji N, Kassogue Y, Fahimi M, Serbati N, Badre W, Nadifi S.
Genetic Polymorphisms of Multidrug Resistance Gene-1 (MDR1/ABCB1) and Glutathione S-Transferase Gene and the Risk of Inflammatory Bowel Disease among Moroccan Patients.
Mediators Inflamm. 2015;2015:248060. doi: 10.1155/2015/248060. Epub 2015 Oct 28. |
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