SNPs of the PSMA6 Gene - Investigation of Possible Association with Myocardial Infarction and Type 2 Diabetes Mellitus

摘要

In our preceding studies we have identified microsatellite polymorphisms inside the PSMA6 gene and in its 5' upstream region. Following the observed associations of microsatelhre polymorphisms with non-insulm 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 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 mybcardial infarction. No significant association of the polymorphisms with plasma lipid levels or BM1 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 hapiotype C~(-110)/G~(-8), compares to C~(-110)/G~(-8) was associated with a higher risk of N1DDM.