Three novel polymorphisms in the promoter region of the TIMP 3 gene are not associated with proliferative diabetic retinopathy in type 2 diabetes mellitus

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Authors

BERÁNEK Michal KAŇKOVÁ Kateřina TSCHÖPLOVÁ Svatava KOLÁŘ Petr VÁCHA Jiří

Year of publication 2003
Type Article in Periodical
Magazine / Source Current Eye Research
MU Faculty or unit

Faculty of Medicine

Citation
Field Endocrinology, diabetology, metabolism, nutrition
Keywords extracellular matrix; genetic polymorphism; T2DM; proliferative retinopathy; TIMP
Description Purpose: Tissue inhibitor of metalloproteinase-3 (TIMP-3) is a member of the TIMP family of proteins, playing a significant role in the control of extracellular matrix remodelling. TIMP-3 might play a role in regulation of retinal neovascularization during progression of diabetic retinopathy. Recently, three novel polymorphisms (-899T/A, -915A/G and ĄV1296T/C) in the promoter region of the TIMP-3 gene were identified. The aim of the study was to investigate a possible association of these polymorphisms with proliferative diabetic retinopathy (PDR) in type 2 diabetes mellitus (T2DM). Methods: Genotypes were detected by polymerase chain reaction and subsequent restriction with specific endonucleases. Allele frequencies were determined in an association study comprising three groups of subjects (n=371). Results: Linkage disequilibrium was found among the three polymorphisms. Allele frequencies did not differ between neither T2DM+PDR and T2DM non-PDR subjects nor between all T2DM versus non-diabetic subjects. Conclusions: Polymorphisms in the promoter region of the TIMP-3 gene were not associated with the PDR in the Caucasian T2DM patients.
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