Polymorphisms in the von Willebrand factor gene are not associated with proliferative retinopathy in NIDDM
| Authors | |
|---|---|
| Year of publication | 2002 |
| Type | Article in Periodical |
| Magazine / Source | Ophthalmic Research |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | Proliferative retinopathy; von Willebrand factor; NIDDM; genetic polymorphism |
| Description | Von Willebrand factor, a multimeric glycoprotein synthesised mainly by endothelial cells, is involved in platelet adhesion and aggregation and performs an important role in the process of angiogenesis. Increased levels of von Willebrand factor, reflecting activation or damage of endothelial cells, have been described in association with proliferative diabetic retinopathy (PDR). We investigated the relationships of two polymorphisms (-1793G/C and Thr789Ala) in the von Willebrand factor gene with PDR. Genotypes were detected by polymerase chain reactions with subsequent restrictions with specific endonucleases. Allele frequencies were determined in an association study (n=371) comprising three groups of subjects (diabetics with and without retinopathy and non-diabetics). Allele frequencies of the -1793G/C and Thr789Ala did not differ between the NIDDM+PDR and the NIDDM non-PDR groups (P>0.05). However, a statistically significant difference in allele and genotype frequencies of the -1793G/C was proved between all NIDDM versus non-diabetic subjects (P=0.024 and P=0.0065, respectively) with allele G and genotype GG significantly more frequent in NIDDM group. Calculated odds ratio for the GG genotype was 1.20 (95% CI, 0.77-1.86). Although significantly higher plasma von Willebrand factor-antigen levels in NIDDM patients with PDR have been described in several studies, our findings indicate that no association exists between the two polymorphisms and PDR. However, the -1793G/C polymorphism might affect the risk of NIDDM. |
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