Polymorphisms in the von Willebrand factor gene are not
associated with proliferative retinopathy in NIDDM

J 2002

Polymorphisms in the von Willebrand factor gene are not associated with proliferative retinopathy in NIDDM

BERÁNEK, Michal, Kateřina KAŇKOVÁ, Petr KOLÁŘ and Vladimír ZNOJIL

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

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

Genetics and molecular biology

Country of publisher

Switzerland

Confidentiality degree

není předmětem státního či obchodního tajemství

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

Abstract

V originále

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.

Links

MSM 141100002, plan (intention)

Name: Molekulární patofyziologie multigenních chorob

Investor: Ministry of Education, Youth and Sports of the CR, Molecular pathophysiology of multigene diseases

Citovat

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.

@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.

Detailed Information on Publication Record