Journal of Diabetes and Metabolic Disorders 2011. 10( ):20-.

PECAM-1 (CD31) gene polymorphisms in type 1 diabetes and its microangiopathic complications
Tavakkoly Bazzaz J, Amoli MM, Pravica V, Larijani B, Hutchinson IV

Abstract


Background: Platelet-endothelial cell adhesion molecule 1 (PECAM-1) is a widely distributed adhesion molecule and is considered as a candidate molecule in vascular pathologies including diabetic microvascular complications. Endothelial cells have a crucial role in the pathogenesis of diabetic complications. PECAM-1 is expressed on both residential endothelial and circulatory blood cells.
Methods: In the present study, at first the PECAM-1 gene promoter region was explored for detection of novel polymorphism using PCR-SSCP technique. Genotyping of polymorphisms was carried out using ARMS-PCR technique on type 1 diabetic patients (N=251) and normal controls (N=86). Subgroup analysis was performed on type 1 diabetic patients with various microvascular complications. In order to investigate the effect of novel polymorphism on PECAM-1 cell surface expression, functional or phenotypic value of novel polymorphism in quantitative level was assessed using flow cytometry of PBMC's carrying different genotype.
Results: We found a novel polymorphism in PECAM-1 gene promoter (-265*C/T) (Genebank acc. No. AJ313330). Flow cytometry analysis showed that this polymorphism had no effect on PECAM-1 cell surface expression. However, flow cytometry analysis for another polymorphism at codon +125*G/C has shown that it was correlated with the level of PECAM-1 cell surface expression in PBMCs. No significant association between these two polymorphisms and type1 diabetes or diabetes microvascular complications were found.
Conclusion: The polymorphisms in PECAM-1 gene do not appear to be genetic risk factors for type 1 diabetes or diabetes microvascular complications. However this needs to be further confirmed.


Keywords


Polymorphism, Type 1 diabetes, Microvascular complications, PECAM-1 gene,

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