Fibromyalgia syndrome (FMS) is characterized by widespread musculoskeletal pain. It is more common in women than in men, and sex hormones may play a role in this predominance. Therefore, this research investigated whether Estrogen-α (ESR1) gene variants are associated with FMS and clinical findings among Turkish females.

Methods: A total of 219 individuals were enrolled in this study. ESR1 variants (PvuII/XbaI) were genotyped using PCRRFLP methods. The results of the analyses were evaluated for statistical significance.

Results: There was a significant association between the ESR1 PvuII and FMS risk among Turkish women. The ESR1 PvuII CC genotype and C allele were higher in the patients than those in the controls (p=0.021, p=0.007, respectively). A more statistically significant association was observed between the patients and the controls in terms of TT genotype vs. TC+CC genotypes (p=0.022). Also, there was a statistically significant association between the patients and the controls in terms of TT+TC genotype vs. CC genotypes (p =0.028). There was no significant association between patients and the control group concerning the genotype distribution and allele frequencies of ESR1 XbaI (p>0.05). Headache was seen more frequently in the XbaI GA genotype (p=0.025), while XbaI AA genotype was associated with dysmenorrhea in patients with FMS (p=0.041).

Conclusion: Our results indicate that ESR1 PvuII/XbaI variants are possibly effective in the development of FMS and some clinical features.
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