01 July 2011
Association of MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms with risk of primary open angle glaucoma in a Polish population
Ireneusz MajsterekACDEFG, Lukasz MarkiewiczBCD, Karolina PrzybylowskaBCDEF, Mira GacekBCDF, Anna K. KurowskaBC, Anna KaminskaBCF, Jerzy SzaflikADG, Jacek P. SzaflikABDEFGDOI: 10.12659/MSM.881854
Med Sci Monit 2011; 17(7): CR417-421
Abstract
Background: Primary open angle glaucoma (POAG) is considered to be a leading cause of irreversible blindness worldwide. Matrix metalloproteinases (MMPs) and their inhibitors (TIMPs) have been extensively studied as POAG risk factors. Recently, several single-nucleotide polymorphisms (SNPs) for MMPs and TIMPs encoding genes have been reported in POAG patients. The aim of this study was to investigate association of the -1607 1G/2G MMP1 and 372 T/C TIMP1 gene polymorphisms with risk of POAG in a Polish population.
Material/Methods: In the present case-control study we examined a group of 449 unrelated Caucasian subjects consisting of 196 POAG patients (66 males and 130 females; mean age 70±14) and 253 controls (72 males and 181 females; mean age 67±16). The MMP1-1607 1G/2G and TIMP1 372 T/C gene polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated.
Results: We found a statistically significant increase of the 2G/2G genotype (OR 1.73; 95% CI 1.05–2.86; p=0.019) as well as the 2G allele frequency (OR 1.34; 95% CI 1.03–1.75; p=0.017) of MMP1 in POAG patients in comparison to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the TIMP1 polymorphism between patients and controls group. We also did not find any association of TIMP1 with MMP1 gene-gene interaction and risk of POAG occurrence.
Conclusions: In conclusion, we suggest that the -1607 1G/2G polymorphism of MMP1 gene may be considered as an important risk factor associated with primary open angle glaucoma in a Polish population. However, further in vivo study is needed to evaluate biological importance of MMPs polymorphisms as a risk factor of POAG.
Keywords: Matrix Metalloproteinase 1 - genetics, Glaucoma, Open-Angle - genetics, Genome-Wide Association Study, Genetic Predisposition to Disease - genetics, Gene Frequency, DNA Primers - genetics, Aged, 80 and over, Poland, Polymorphism, Single Nucleotide - genetics, Tissue Inhibitor of Metalloproteinase-1 - genetics
Editorial
01 April 2025 : Editorial
Editorial: Rapid Testing for the Avian Influenza A(H5N1) Virus is Urgently Required as Infections in Poultry and Dairy Cows are on the Rise, and so is Transmission to HumansDOI: 10.12659/MSM.949109
Med Sci Monit 2025; 31:e949109
In Press
Clinical Research
Dental Students’ Opinions on Use of Artificial Intelligence: A Survey StudyMed Sci Monit In Press; DOI: 10.12659/MSM.947658
Database Analysis
Defining Effect Size Standards in Temporomandibular Joint and Masticatory Muscle ResearchMed Sci Monit In Press; DOI: 10.12659/MSM.948365
Clinical Research
Evaluating Factors Influencing Periodontal Bone Loss Using Cone Beam Computed Tomography: A Retrospective S...Med Sci Monit In Press; DOI: 10.12659/MSM.947759
Database Analysis
Prognostic Significance and Immune Environment Analysis Using PANoptosis Molecular Clustering in Gastric Ca...Med Sci Monit In Press; DOI: 10.12659/MSM.947710
Most Viewed Current Articles
17 Jan 2024 : Review article 8,225,070
Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron VariantDOI :10.12659/MSM.942799
Med Sci Monit 2024; 30:e942799
16 May 2023 : Clinical Research 703,027
Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...DOI :10.12659/MSM.940387
Med Sci Monit 2023; 29:e940387
01 Mar 2024 : Editorial 30,424
Editorial: First Regulatory Approvals for CRISPR-Cas9 Therapeutic Gene Editing for Sickle Cell Disease and ...DOI :10.12659/MSM.944204
Med Sci Monit 2024; 30:e944204
28 Jan 2024 : Review article 24,191
A Review of IgA Vasculitis (Henoch-Schönlein Purpura) Past, Present, and FutureDOI :10.12659/MSM.943912
Med Sci Monit 2024; 30:e943912