Aims: Temporomandibular joint internal derangement (TMJ-ID) is the impairment of the metabolic processes in the extracellular matrix of the articular disc causing progressive tissue breakdown. Objective: The aim of this study was to investigate the association of XbaI and PvuII polymorphisms with TMJ-ID and to evaluate susceptibility to the disorder. Methods: Unrelated TMJ-ID patients (age= 31.7±7.9) (n=48; 38 female, 10 male) and healthy controls (age=28.22 ± 5.9) (n=70; 33 female, 37 male) were included in the study. DNA extraction was done by standard proteinase K/phenol-chloroform method. Polymorphisms of the Estrogen receptor 1 gene (ESR1) was investigated by a polymerase chain reaction based restriction fragment length polymorphism assay. Results: TMJ-ID patients, and the subgroups; TMJ-ID anterior disc displacement with reduction (ADDwR) and TMJ-ID anterior disc displacement without reduction (ADDwoR) cases carrying the Pp and pp genotype had a 1.28/1.27, 1.43/1.90 and 1.18/0.81-fold odds ratio (p>0.05), respectively. ESR1 polymorphisms revealed five different genotypes in both the patient and the control groups; PXpx (45.6%/47.05%), PXPX (21.7%/27.9%), pxpx (13.04%/13.2%), PXpX (15.2%/8.83%) and PXPx (4.3%/2.94%). The pxpx genotype had a 2.30 fold odds ratio in women. Conclusion: The results from this study did not confirm susceptibility of VDR polymorphisms to TMJ-ID, however, these variations should be further evaluated in a larger cohort study. Keywords: Temporomandibular joint internal derangement, temporomandibular joint osteoarthritis, anterior disc displacement with reduction, anterior disc displacement without reduction, ERα, ESR1

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