Background: 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 the clinical findings among Turkish females and whether Estrogen-α (ESR1) gene variants are associated with FMS.

Methods: A total of 219 individuals were enrolled in this study. ESR1 variants (PvuII/XbaI) were genotyped using PCR-RFLP 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.

背景：纤维肌痛综合征 (FMS) 的特征是广泛的肌肉骨骼疼痛。女性比男性更常见，性激素可能在这种优势中发挥作用。因此，本研究调查了土耳其女性的临床发现以及雌激素-α (ESR1) 基因变异是否与 FMS 相关。

方法：本研究共招募了 219 名个体。ESR1 变体 (PvuII/XbaI) 使用 PCR-RFLP 方法进行基因分型。评估分析结果的统计显着性。

结果：土耳其女性的 ESR1 PvuII 和 FMS 风险之间存在显着关联。患者的 ESR1 PvuII CC 基因型和 C 等位基因高于对照组（分别为 p=0.021、p=0.007）。在 TT 基因型与 TC+CC 基因型（p=0.022）方面，在患者和对照之间观察到了更具统计学意义的关联。此外，就 TT+TC 基因型与 CC 基因型而言，患者和对照之间存在统计学上显着的关联（p = 0.028）。在ESR1 XbaI基因型分布和等位基因频率方面，患者与对照组之间无显着相关性（p>0.05）。头痛在 XbaI GA 基因型中更常见（p = 0.025），而 XbaI AA 基因型与 FMS 患者的痛经相关（p = 0.041）。

结论：我们的结果表明 ESR1 PvuII/XbaI 变体可能对 FMS 的发展和一些临床特征有效。