Association of MMP but not TIMP-1 gene polymorphisms with recurrent aphthous stomatitis

J. A. Karasneh, M. E. Bani-Hani, A. M. Alkhateeb, A. F. Hassan, M. H. Thornhill

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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 χ2 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.

Original languageEnglish
Pages (from-to)693-699
Number of pages7
JournalOral Diseases
Issue number7
Publication statusPublished - 1 Oct 2014
Externally publishedYes



  • Matrix metalloproteinase
  • Polymorphism
  • Recurrent aphthous stomatitis
  • Tissue inhibitors of metalloproteinases

ASJC Scopus subject areas

  • Dentistry(all)
  • Otorhinolaryngology

Cite this

Karasneh, J. A., Bani-Hani, M. E., Alkhateeb, A. M., Hassan, A. F., & Thornhill, M. H. (2014). Association of MMP but not TIMP-1 gene polymorphisms with recurrent aphthous stomatitis. Oral Diseases, 20(7), 693-699.