ESR1 rs2234693 might be associated with TMD risk in the Turkish population, but not rs9340799

Aims: The gender and age distribution of temporomandibular disorder (TMD) suggest a possible role for the female hormonal axis in the pathogenesis. The goal of this study was to evaluate if estrogen receptor (ESR1) gene variants contribute to TMD susceptibility in the Turkish population. Methods: A total of 270 people, 130 of whom were TMD patients and 140 healthy controls, were included in the study. The ESR1 PvuII (rs2234693) and Xbal (rs9340799) variants were genotyped using the polymerase chain reaction based restriction fragment length polymorphism (PCR-RFLP). The results were evaluated statistically. Results: There were 110 women (81.48%) and 25 men (18.52%) in the patient group. We found there was a significant association between rs2234693 T/C, C/C genotypes and TMD (p=0.007). Also, the C allele was more prevalent in patients compared to controls (p=0.002). A statistically significant association was observed when the patients were compared with the controls according to TT versus TC+CC (p=0.002). There was no statistical significance between the patient and control groups in terms of rs9340799 genotype and allele distribution. Then we evaluated the relationship between genotype distributions and clinical characteristics. Both males and females had the highest rs2234693 T/C genotype (p=0.049). The majority of people with bruxism, bruxomania, and bruxism plus bruxoma carried the rs2234693 T/C genotype (p=0.025). Conclusion: Our results showed that ESR1 rs2234693 might be associated with TMD risk in the Turkish population, but not rs9340799.