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<p>This study investigated the association between temporomandibular joint osteoarthritis and specific single-nucleotide polymorphisms. We also explored the potential functional impacts of these polymorphisms using in silico methods. 354 patients with temporomandibular disorders were classified into osteoarthritis and without osteoarthritis according to the presence of degenerative bone changes in the magnetic resonance imaging including osteophytes, erosion, subchondral cysts, and atrophy. Genomic DNA was extracted and genotyping was performed to determine 16 alleles. Multivariate analysis was performed to explore the polymorphisms associated with temporomandibular joint osteoarthritis, followed by in silico analysis to predict the functional relevance of the polymorphisms. Multivariate analysis identified that rs9350591 (between <i>FILIP1</i> and <i>SENP6</i>) and rs8044769 (<i>FTO</i>) are potentially associated with temporomandibular joint osteoarthritis. In silico analyses revealed that rs9350591 affects transcription factor binding, whereas rs8044769 alters the predicted score as a splicing site. These findings suggest that genetic factors, particularly rs9350591 and rs8044769, are associated with temporomandibular joint osteoarthritis among patients with temporomandibular disorders. This underscores the importance of genetic studies for understanding temporomandibular joint osteoarthritis. This study provides the potential genetic clues for temporomandibular joint osteoarthritis and insights into the genetic and molecular mechanisms underlying this disease.</p>

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Association of single nucleotide polymorphisms in FILIP1-SENP6 and FTO with temporomandibular joint osteoarthritis: clinical and in silico study

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月10日

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  • Emi Ono,
  • Ryota Takaoka,
  • Kotaro Kuyama,
  • Masayuki Ono,
  • You Ueda,
  • Shion Morika,
  • Rie Yamamoto,
  • Hirofumi Yatani,
  • Shoichi Ishigaki,
  • Takafumi Kato,
  • Yuka Uchiyama,
  • Hiroaki Shimamoto,
  • Masahiro Nishimura

摘要

This study investigated the association between temporomandibular joint osteoarthritis and specific single-nucleotide polymorphisms. We also explored the potential functional impacts of these polymorphisms using in silico methods. 354 patients with temporomandibular disorders were classified into osteoarthritis and without osteoarthritis according to the presence of degenerative bone changes in the magnetic resonance imaging including osteophytes, erosion, subchondral cysts, and atrophy. Genomic DNA was extracted and genotyping was performed to determine 16 alleles. Multivariate analysis was performed to explore the polymorphisms associated with temporomandibular joint osteoarthritis, followed by in silico analysis to predict the functional relevance of the polymorphisms. Multivariate analysis identified that rs9350591 (between FILIP1 and SENP6) and rs8044769 (FTO) are potentially associated with temporomandibular joint osteoarthritis. In silico analyses revealed that rs9350591 affects transcription factor binding, whereas rs8044769 alters the predicted score as a splicing site. These findings suggest that genetic factors, particularly rs9350591 and rs8044769, are associated with temporomandibular joint osteoarthritis among patients with temporomandibular disorders. This underscores the importance of genetic studies for understanding temporomandibular joint osteoarthritis. This study provides the potential genetic clues for temporomandibular joint osteoarthritis and insights into the genetic and molecular mechanisms underlying this disease.