BERÁNEK, Michal, Kateřina KAŇKOVÁ, Petr KOLÁŘ and Vladimír ZNOJIL. Polymorphisms in the von Willebrand factor gene are not associated with proliferative retinopathy in NIDDM. Ophthalmic Research. Switzerland: S. Karger AG, Basel, 2002, vol. 34, No 5, p. 327-330. ISSN 0030-3747.
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Basic information
Original name Polymorphisms in the von Willebrand factor gene are not associated with proliferative retinopathy in NIDDM
Authors BERÁNEK, Michal (203 Czech Republic, guarantor), Kateřina KAŇKOVÁ (203 Czech Republic), Petr KOLÁŘ (203 Czech Republic) and Vladimír ZNOJIL (203 Czech Republic).
Edition Ophthalmic Research, Switzerland, S. Karger AG, Basel, 2002, 0030-3747.
Other information
Original language English
Type of outcome Article in a journal
Field of Study Genetics and molecular biology
Country of publisher Switzerland
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 0.933
RIV identification code RIV/00216224:14110/02:00006123
Organization unit Faculty of Medicine
UT WoS 000178863600012
Keywords in English Proliferative retinopathy; von Willebrand factor; NIDDM; genetic polymorphism
Tags genetic polymorphism, NIDDM, Proliferative retinopathy, von Willebrand factor
Changed by Changed by: prof. MUDr. Kateřina Kaňková, Ph.D., učo 2524. Changed: 24/6/2009 15:28.
Abstract
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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MSM 141100002, plan (intention)Name: Molekulární patofyziologie multigenních chorob
Investor: Ministry of Education, Youth and Sports of the CR, Molecular pathophysiology of multigene diseases
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