Wydanie 1/2011
str. 13

Związek polimorfizmów -1562 C/T genu MMP-9, -82 A/G genu MMP-12 i -511 C/T genu IL-1β z występowaniem jaskry pierwotnej otwartego kąta w populacji polskiej

Association of the-1562 C/T MMP-9, the -82 A/G MMP-12 and the -511 C/T IL-1β Gene Polymorphisms with the Occurrence of Primary Open-angle Glaucoma in a Polish Population

Łukasz Markiewicz1, Mira Gacek2, Jacek P. Szaflik2, Anna Kamińska2, Karolina Przybyłowska1, Anna Kurowska2, 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: Revealing role of matrix metalloproteinases and their regulators as a potential predetermination factors of primary open-angle glaucoma (POAG) can be very useful in development and application of new therapy methods. Searching for genes co-responsible for the development of this type of glaucoma appears to be particularly important given the fact that it is one of the most common causes of blindness in the world. The aim of this study was to evaluate potential relationship between the -1562 C/T MMP-9, the -82 A/G MMP-12 and the -511 C/T IL-1β gene polymorphisms with risk of POAG development.
Material and methods: In the presented study we examined 373 samples of genomic DNA isolated from peripheral blood obtained from 162 patients diagnosed with POAG (mean age 70 ± 14) and 211 people without POAG used as control group (mean age 67 ± 16). Analysis of the -1562 C/T MMP-9, the -82 A/G MMP-12 and the ‑511 C/T IL-1β gene polymorphisms was carried out using restriction fragment length polymorphism of polymerase chain reaction technique, PCR-RFLP.
Results: It was showed that the CT heterozygote of the -1562 MMP-9 polymorphism and the T allele exhibit a significant increase in frequency in patients with POAG compared with the control group (respectively CT: p = 0.016, OR = 1.77, 95% CI = 1.11-2.84 and T: p = 0.023, OR = 1.58, 95% CI = 1.06-2.35) as well as a statistically significant increase of the TT frequency homozygote of the -511 IL-1β polymorphism and the T allele in patients with POAG compared with the control group (respectively: TT: OR = 2.06, 95% CI 1.02-4.32, P = 0.042 and T: OR = 1, 1932, 95% CI = 1.01-1.86, P = 0.044). Furthermore, the analysis of gene-gene interactions of MMP-9 and IL-1β showed a statistically significant increase of the frequency of the CT/CT genotype in the study group compared to the control group (OR = 2.53, 95% CI 1.30-4.91, P = 0.006).
Conclusions: The -1562 C/T MMP-9 and -511 C/T IL-1β gene polymorphisms may be associated with an increased risk of POAG in the Polish population.

Słowa kluczowe: JPOK, metaloproteinazy macierzowe, MMP-9, MMP-12, IL-1β.

Keywords: POAG, matrix metalloproteinases, MMP-9, MMP-12, IL-1β.