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Wydanie 1/2011
str. 23

Funkcjonalny polimorfizm regionu promotorowego genu inhibitora tkankowego metaloproteinaz macierzowych 2 (TIMP-2) u pacjentów z jaskrą pierwotną otwartego kąta w populacji polskiej

A Functional Promoter Polymorphism of Tissue Inhibitor of Metalloproteinase-2 (TIMP-2) Gene in Patients with Primary Open-angle Glaucoma of a Polish Population

Patrycja Banaś¹, Mira Gacek², Karolina Przybyłowska¹, Anna Kamińska², Jacek P. Szaflik², Jerzy Szaflik², Ireneusz Majsterek¹

¹ Zakład Chemii i Biochemii Klinicznej Uniwersytetu Medycznego w Łodzi
Kierownik: dr hab. n. biol., prof. ndzw. Ireneusz Majsterek
² Katedra i Klinika Okulistyki II Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego
Samodzielny Publiczny Kliniczny Szpital Okulistyczny w Warszawie
Kierownik: prof. dr hab. n. med. Jerzy Szaflik

Summary: Purpose: The functional polymorphisms of tissue inhibitor metalloproteinase 2 (TIMP-2) gene (the -418 G/C polymorphism) retire the Sp-1 binding site and down-regulate expression of this gene. We focus on possible role of TIMP-2 polymorphism in primary open-angle glaucoma of a Polish population.
Methods: DNA was extracted from peripheral blood leucocytes were collected from 123 patients with POAG and 150 controls of polish population. TIMP-2 genotypes were analyzed by PCR-RFLP method.
Results: The minor allele C frequency of TIMP-2 gene polymorphism was 4% in control subjects and 2% in POAG patients. We detected no statistical difference when we compared the genotypes distribution and allele frequencies between POAG patients and control subjects. When we calculated OR after adjusting for diabetic we observed a tendency to an decreased risk of developing POAG for G/C genotype (OR adjust to diabetic = 0.22 vs OR no adjust = 0.65).
Conclusion: Results from this study suggest that the -418 G/C promoter polymorphism of TIMP-2 gene is unlikely major risk factors among Polish patients with POAG. However it is possible that this polymorphism may have influence on POAG development in diabetic.

Słowa kluczowe: tkankowy inhibitor metaloproteinaz macierzowych 2, polimorfizm genów, jaskra pierwotna otwartego kąta, ciśnienie wewnątrzgałkowe, sieć beleczkowania.

Keywords: tissue inhibitor of metalloproteinase 2, gene polymorphism, primary open-angle glaucoma, intra ocular pressure, trabecular meshwork.

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