SNPs of the PSMA6 gene: Investigation of possible association with myocardial infarction and type 2 diabetes mellitus |
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Authors: | T Sjakste I Poudziunas E Ninio C Perret V Pirags V Nicaud M Lazdins A Evans C Morrison F Cambien N Sjakste |
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Institution: | 1. Institute of Biology, University of Latvia, Salaspils, LV2169, Latvia 2. Faculty of Medicine, University of Latvia, Riga, LV1001, Latvia 3. INSERM U525 and Université PM Curie/Faculté de Médicine Pitié-Salpétrière, 91 bd. de l’H?pital, Paris cedex 13, 75634, France 4. Faculty of Biology, University of Latvia, Riga, LV1586, Latvia 5. Queen’s University Belfast, Northern Ireland, UK 6. Glasgow Royal Infirmary, Scotland, UK
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Abstract: | In our preceding studies, we have identified microsatellite polymorphisms inside the PSMA6 gene and in its 5′ upstream region. Following the observed associations of microsatellite polymorphisms with non-insulin
dependent diabetes mellitus and Graves’ disease, we extended the evaluation of PSMA6 genetic variations to cardiovascular disorders and non-insulin dependent diabetes mellitus. New polymorphisms in the promoter
region and exon 6 of the gene were identified by direct sequencing of the promoter region and all seven exons of the gene
in 30 individuals of the European descent. Two SNPs at positions −110 and −8 from the translation start, in the promoter region
and 5′ UTR, respectively, were analyzed. Neither polymorphism was associated with the risk of myocardial infarction. No significant
association of the polymorphisms with plasma lipid levels or BMI was observed. A borderline association of both polymorphisms
with diastolic blood pressure was observed in the control group. Genotype −8CG was significantly more frequent in type 2 diabetes
patients, and haplotype C−110/G−8, compared to C−110/G−8 was associated with a higher risk of NIDDM.
The text was submitted by the authors in English. |
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