Estrogen receptor-alpha polymorphisms and predisposition to TMJ disorder

Area of Science:

• Genetics
• Endocrinology
• Oral and Maxillofacial Surgery

Background:

• Temporomandibular joint disorders (TMJD) disproportionately affect women.
• Estrogen's role in TMJD pathogenesis is suspected but not fully understood.
• Genetic predisposition may influence TMJD susceptibility.

Purpose of the Study:

• To investigate the association between estrogen receptor-alpha (ESR1) gene polymorphisms (XbaI/PvuII single nucleotide polymorphisms - SNPs) and TMJD in women.
• To determine if specific ESR1 haplotypes correlate with TMJD risk and pain levels.

Main Methods:

• DNA analysis of ESR1 XbaI/PvuII SNPs in 200 women with TMJD and 100 controls.
• Utilized polymerase chain reaction and restriction fragment length polymorphism analysis.
• Employed the EM algorithm to analyze haplotypic structures and assess risk.

Main Results:

• The [GC] haplotype at the XbaI locus was significantly more prevalent in women with TMJD compared to controls (P = .0012).
• This [GC] haplotype showed increased prevalence in both painful TMJD (OR=3.203) and no-pain TMJD (OR=2.51) groups versus controls.
• The [GC] haplotype in ESR1 may be a genetic marker for increased TMJD susceptibility in women.

Conclusions:

• Estrogen receptor-alpha gene polymorphisms, specifically the [GC] haplotype, are associated with an increased risk of developing TMJD in women.
• This genetic finding contributes to understanding interindividual differences in TMJD predisposition.
• May inform future personalized treatment strategies for TMJD in female patients.