Abdominal obesity-metabolic syndrome 1
OMIM:605552Mode of inheritance:Multifactorial
Disease classification:Endocrine, nutritional and metabolic disease
Polymorphisms
| Gene symbol | APOA5 |
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| Reference transcript | NM_052968.4 |
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| DNA Change | -1131T>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 |
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| Reference SNP | rs662799 |
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| Cases | 176 |
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| Controls | 105 |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| TT | 28.4% | 61.9% | 1 | | | TC | 66.9% | 32.4% | 10.13 (4.65-22.06) | <0.0001 | | CC | 4.7% | 5.7% | 1.49 (0.37-6.00) | 0.575 | | TC+CC | 71.6% | 38.1% | 7.82 (3.79-16.14) | <0.0001 |
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| Reference | Ajjemami M, Ouatou S, Charoute H, Fakiri M, Rhaissi H, Benrahma H, Rouba H, Barakat A.Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome.
J Diabetes Metab Disord. 2015 Apr 16;14:29. |
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| Gene symbol | APOA5 |
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| Reference transcript | NM_001166598.1 |
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| DNA Change | c.56C>G |
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| A.A. Change | p.Ser19Trp |
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| Exon/Intron | exon 3 |
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| Variation Type | substitution |
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| Reference SNP | rs3135506 |
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| Cases | 176 |
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| Controls | 105 |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| CC | 53.1% | 68% | 1 | | | CG | 6.6% | 27.2% | 2.13 (1.05-4.31) | 0.035 | | GG | 10.3% | 4.8% | 1.72 (0.48-6.21) | 0.407 | | CG+GG | 46.9% | 32% | 2.07 (1.07-4.03) | 0.032 |
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| Reference | Ajjemami M, Ouatou S, Charoute H, Fakiri M, Rhaissi H, Benrahma H, Rouba H, Barakat A.Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome.
J Diabetes Metab Disord. 2015 Apr 16;14:29. |
|---|
| Gene symbol | APOA5 |
|---|
| Reference transcript | NM_001166598.1 |
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| DNA Change | c.553G>T |
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| A.A. Change | p.Gly185Cys |
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| Exon/Intron | exon 5 |
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| Variation Type | substitution |
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| Reference SNP | rs2075291 |
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| Cases | 176 |
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| Controls | 105 |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| GG | 85.2% | 81.9% | 1 | | | GT | 13.1% | 14.3% | 0.97 (0.38-2.48) | 0.943 | | TT | 1.7% | 3.8% | 0.27 (0.05-1.59) | 0.148 | | GT+TT | 14.8% | 18.1% | 0.73 (0.32-1.71) | 0.472 |
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|---|
| Reference | Ajjemami M, Ouatou S, Charoute H, Fakiri M, Rhaissi H, Benrahma H, Rouba H, Barakat A.Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome.
J Diabetes Metab Disord. 2015 Apr 16;14:29. |
|---|
| Gene symbol | APOA5 |
|---|
| Reference transcript | NM_052968.4 |
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| DNA Change | 1259T>C (c.*158C>T) |
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| A.A. Change | |
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| Exon/Intron | 3' of the ATG codon |
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| Variation Type | substitution |
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| Reference SNP | rs2266788 |
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| Cases | 176 |
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| Controls | 105 |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| TT | 65.7% | 51% | 1 | | | TC | 16% | 27.9% | 0.56 (0.25-1.27) | 0.166 | | CC | 18.3% | 21.1% | 0.69 (0.32-1.52) | 0.365 | | TC+CC | 34.3% | 49% | 0.63 (0.33-1.17) | 0.143 |
|
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| Reference | Ajjemami M, Ouatou S, Charoute H, Fakiri M, Rhaissi H, Benrahma H, Rouba H, Barakat A.Haplotype analysis of the Apolipoprotein A5 gene in Moroccan patients with the metabolic syndrome.
J Diabetes Metab Disord. 2015 Apr 16;14:29. |
|---|