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The ‐1562C/T MMP‐9 and the ‐511C/T IL‐1β gene polymorphisms in primary open‐angle glaucoma patients
Author(s) -
MAJSTEREK I,
MARKIEWICZ L,
PRZYBYLOWSKA K,
GACEK M,
WASZCZYK M,
UDZIELA M,
SZAFLIK JP,
SZAFLIK J
Publication year - 2011
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2011.264.x
Subject(s) - genotype , allele , glaucoma , medicine , gastroenterology , genotype frequency , allele frequency , matrix metalloproteinase , open angle glaucoma , restriction fragment length polymorphism , polymorphism (computer science) , gene , ophthalmology , endocrinology , biology , genetics
Purpose Matrix metalloproteases (MMPs) play a role in the remodeling of extracellular matrix components (ECM) and the development of primary open‐angle glaucoma (POAG). Interleukin 1 (IL‐1β) is considered as MMP’s transcription upregulating factor. The aim of this study was to evaluate an association of the ‐1562C/T MMP‐9 and the ‐511C/T IL‐1β gene polymorphisms with a risk of POAG in a Polish population. Methods DNA samples obtained from 196 POAG patients (mean age 70 ± 14) and 256 control subjects (mean age 67 ± 16) were analyzed by restriction fragment length polymorphism of polymerase chain reaction (PCR‐RFLP). Results The comparison of genotypes distributions showed that the ‐1562C/T genotype (OR 1.69, 95% CI 1.10 ‐ 2.58; P = 0.015) and the T allele (OR 1.57, 95% CI 1.10 ‐ 2.26; P = 0.014) of MMP‐9 exhibit a significant increase of the frequency in POAG patients as compared to healthy controls. A statistically significant increase of the frequency was also found for the ‐511T/T genotype (OR 2.35, 95% CI 1.23‐4.51; P = 0.009) and the T allele (OR 1.40, 95% CI 1.06‐1.85; P = 0.017) of IL‐1β in POAG patients. The analysis of gene‐gene interactions of MMP‐9 and IL‐1β showed a statistically significant increase of the frequency of the C/T‐C/T (OR 2.27, 95% CI 1.25‐4.10; P = 0.006) and the C/C‐T/T (OR 2.23, 95% CI 1.05‐4.71; P = 0.033) genotypes in POAG patients group. Conclusion In conclusion, we suggest that MMP‐9 and IL‐1β gene polymorphisms may be associated with an increased risk of POAG in a Polish population. This work was supported by grants N N402 375838 and N N402 248936 from Polish Ministry of Science and Higher Education.