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Published on: April 1, 2019
Association of MMP but not TIMP-1 gene polymorphisms with recurrent aphthous stomatitis
J A Karasneh1, M E Bani-Hani, A M Alkhateeb
1Department of Oral Medicine and Oral Surgery, Jordan University of Science and Technology (JUST), Irbid, Jordan.
Objectives:
Recurrent aphthous stomatitis (RAS) is a common oral inflammatory disease induced by genetic and environmental factors. Gelatinases (MMP-2 and MMP-9) and their natural inhibitor TIMP-1 are active players in the inflammatory process. We aimed to determine whether inheritance of specific MMP-2, MMP-9, or TIMP-1 gene polymorphisms is associated with RAS susceptibility.
Subjects And Methods:
Ninety-six RAS patients and 153 healthy controls were studied. Five polymorphisms were genotyped: rs17576, rs3918242, and rs11697325 in MMP-9, MMP-2 rs2285053, and TIMP-1 rs6609533. Association was assessed by logistic regression analysis after adjustment for confounding factors. Linkage disequilibrium (LD) was assessed using the Haploview program.
Results:
MMP-9 rs11697325 was significantly associated with RAS, with an increase in the AA genotype in patients, determined using χ(2) analysis (OR = 2.3, P = 0.006) and adjusted regression analysis (OR = 3.1, P = 0.009). MMP-9 rs11697325 and rs17576 showed strong LD (D' = 0.95), with an increase in the AA haplotype (P = 0.023) and a decrease in the GA haplotype (P = 0.015) in patients.
Conclusions:
This is the first study to investigate the association of MMPs or TIMP-1 with RAS. We found a significant association between MMP-9 rs11697325 polymorphisms and RAS. Confirmatory studies in other populations and functional investigations are needed to determine the role of these genes in RAS.
Insights
Genetic variations in MMP-9 are linked to recurrent aphthous stomatitis (RAS) susceptibility. Specifically, the MMP-9 rs11697325 polymorphism showed a significant association with RAS in the studied population.
Area of Science:
- Genetics and Oral Medicine
- Inflammatory Disease Research
Background:
- Recurrent aphthous stomatitis (RAS) is a prevalent oral inflammatory condition influenced by genetic and environmental factors.
- Gelatinases (MMP-2, MMP-9) and their inhibitor (TIMP-1) play roles in inflammation.
Purpose of the Study:
- To investigate the association between specific gene polymorphisms in MMP-2, MMP-9, and TIMP-1 and the susceptibility to RAS.
- To identify potential genetic markers for RAS risk.
Main Methods:
- Genotyping of five polymorphisms: rs17576, rs3918242, rs11697325 (MMP-9), rs2285053 (MMP-2), and rs6609533 (TIMP-1).
- Study included 96 RAS patients and 153 healthy controls.
- Association analysis using logistic regression and linkage disequilibrium (LD) assessment.
Main Results:
- A significant association was found between MMP-9 rs11697325 and RAS (OR=3.1, P=0.009).
- The AA genotype of MMP-9 rs11697325 was more frequent in RAS patients.
- Strong LD between MMP-9 rs11697325 and rs17576 was observed, with altered haplotype frequencies in patients.
Conclusions:
- This study provides the first evidence linking MMP-9 gene polymorphisms to RAS susceptibility.
- The MMP-9 rs11697325 polymorphism is significantly associated with RAS.
- Further research, including functional studies and replication in diverse populations, is warranted.
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