ENPP1
Gene name: ectonucleotide pyrophosphatase / phosphodiesterase 1
OMIM ID: 173335 Chromosome location: 6q23.2
Polymorphisms
| Disease/Phenotype | Diabetes mellitus, type 2 (T2DM), susceptibility to |
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| Reference transcript | NM_006208.2 |
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| DNA Change | c.517A>C |
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| A.A. Change | p.Lys173Gln |
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| Exon/Intron | exon 6 |
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| Variation Type | substitution |
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| Reference SNP | rs1044498 |
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| Cases | 1193 T2D cases |
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| Controls | 1055 normoglycaemic controls |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| C | 38.0% | 37.1% | Dominant: 1.08 (0.90-1.31) | 0.41 |
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| Comments | polymorphism not associated with type 2 diabetes in the Moroccan sample population |
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| Reference | Cauchi S, Ezzidi I, El Achhab Y, Mtiraoui N, Chaieb L, Salah D, Nejjari C, Labrune Y, Yengo L, Beury D, Vaxillaire M, Mahjoub T, Chikri M, Froguel P.European genetic variants associated with type 2 diabetes in North African Arabs.
Diabetes Metab. 2012 Mar 29. |
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| Disease/Phenotype | Diabetes mellitus, type 2 (T2DM), susceptibility to |
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| Reference transcript | NM_006208.2 |
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| DNA Change | c.517A>C |
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| A.A. Change | p.Lys173Gln |
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| Exon/Intron | exon 6 |
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| Variation Type | substitution |
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| Reference SNP | rs1044498 |
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| Cases | 503 sujects with T2D |
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| Controls | 412 normoglycaemic |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| K | 628 (62.4%) | 519 (63%) | | | | Q | 519 (63%) | 305 (37%) | Recessive: 0.87 (0.60-1.27) | 0.47 | | KK | 194 (38.6%) | 168 (40.8%) | | | | KQ | 240 (47.7%) | 183 (44.4%) | | | | QQ | 69 (13.7%) | 61 (14.8%) | | |
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| Reference | El Achhab Y, Meyre D, Bouatia-Naji N, Berraho M, Deweirder M, Vatin V, Delplanque J, Serhier Z, Lyoussi B, Nejjari C, Froguel P, Chikri M.Association of the ENPP1 K121Q polymorphism with type 2 diabetes and obesity in the Moroccan population.
Diabetes Metab. 2009 Feb;35(1):37-42. |
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| Disease/Phenotype | Obesity, susceptibility to |
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| Reference transcript | NM_006208.2 |
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| DNA Change | c.517A>C |
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| A.A. Change | p.Lys173Gln |
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| Exon/Intron | exon 6 |
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| Variation Type | substitution |
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| Reference SNP | rs1044498 |
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| Cases | 259 Obese |
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| Controls | 656 Non-Obese |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| K | 302 (58.3%) | 845 (64.4%) | | | | Q | 216 (41.7%) | 467 (35.6%) | Recessive: 1.91 (1.27-2.85) | 0.002 | | KK | 93 (35.9%) | 269 (41%) | | | | KQ | 116 (44.8%) | 307 (46.8%) | | | | QQ | 50 (19.3%) | 80 (12.2%) | | |
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| Reference | El Achhab Y, Meyre D, Bouatia-Naji N, Berraho M, Deweirder M, Vatin V, Delplanque J, Serhier Z, Lyoussi B, Nejjari C, Froguel P, Chikri M.Association of the ENPP1 K121Q polymorphism with type 2 diabetes and obesity in the Moroccan population.
Diabetes Metab. 2009 Feb;35(1):37-42. |
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