Genetic susceptibility to temporomandibular joint involvement in juvenile idiopathic arthritis

P Niibo1, T Nikopensius2, T Jagomägi1

  • 1Institute of Dentistry, University of Tartu, Tartu, Estonia.

PubMed

Insights

This study identified six genetic loci associated with temporomandibular joint (TMJ) involvement in juvenile idiopathic arthritis (JIA) patients. These findings offer insights into genetic susceptibility factors for TMJ-JIA.

Area of Science:

  • Genetics
  • Rheumatology
  • Immunology

Background:

  • Juvenile idiopathic arthritis (JIA) is a common childhood rheumatic disease.
  • Temporomandibular joint (TMJ) involvement is frequent in JIA, potentially leading to growth disturbances and functional deficits.
  • TMJ damage in JIA can cause micrognathia and open bite, impacting aesthetics and function.

Purpose of the Study:

  • To investigate the role of genetic factors in TMJ involvement in JIA.
  • To identify genetic loci associated with TMJ-JIA using a Genome-Wide Association Study (GWAS) approach.
  • To explore genetic susceptibility in TMJ-JIA, a condition previously unstudied in this context.

Main Methods:

  • A case-control study design was employed with 55 JIA patients with TMJ involvement and 208 controls without TMJ involvement.
  • Genotyping was performed using Illumina HumanOmniExpress BeadChip arrays.
  • Data imputation utilized a nationwide reference panel from the Estonian Biobank (2240 individuals).

Main Results:

  • Six genetic loci were significantly associated with the risk of TMJ-JIA in the Estonian cohort.
  • Strongest associations were found at CD6 rs3019551, SLC26A8/MAPK14 rs9470191, NLRP3 rs2056795, and MAP2K4 rs7225328.
  • These loci highlight potential genetic underpinnings of TMJ susceptibility in JIA.

Conclusions:

  • This research provides initial insights into genetic risk loci for TMJ involvement in JIA.
  • The identified loci are implicated in immunological pathways.
  • These genomic regions may confer susceptibility to TMJ involvement in Estonian JIA patients.
Abstract

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