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@article{404084, author = {Beránek, Michal and Kaňková, Kateřina and Kolář, Petr and Znojil, Vladimír}, article_location = {Switzerland}, article_number = {5}, keywords = {Proliferative retinopathy; von Willebrand factor; NIDDM; genetic polymorphism}, language = {eng}, issn = {0030-3747}, journal = {Ophthalmic Research}, title = {Polymorphisms in the von Willebrand factor gene are not associated with proliferative retinopathy in NIDDM}, volume = {34}, year = {2002} }
TY - JOUR ID - 404084 AU - Beránek, Michal - Kaňková, Kateřina - Kolář, Petr - Znojil, Vladimír PY - 2002 TI - Polymorphisms in the von Willebrand factor gene are not associated with proliferative retinopathy in NIDDM JF - Ophthalmic Research VL - 34 IS - 5 SP - 327 EP - 327 PB - S. Karger AG, Basel SN - 00303747 KW - Proliferative retinopathy KW - von Willebrand factor KW - NIDDM KW - genetic polymorphism N2 - 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. ER -
BERÁNEK, Michal, Kateřina KAŇKOVÁ, Petr KOLÁŘ and Vladimír ZNOJIL. Polymorphisms in the von Willebrand factor gene are not associated with proliferative retinopathy in NIDDM. \textit{Ophthalmic Research}. Switzerland: S. Karger AG, Basel, 2002, vol.~34, No~5, p.~327-330. ISSN~0030-3747.
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