Evaluation of ApaI and FokI polymorphism of VDR gene and functional characterization in patients with fibromyalgia

Abstract

Introduction: Fibromyalgia (FM) is a syndrome of unknown origin characterized by several symptoms, and although its pathogenesis has not been completely elucidated, it seems to be related to inflammatory path-ways and neurochemical changes in the brain. Objective: To evaluate the association between BsmI, ApaI and FokI polymorphisms of the vitamin D receptor (VDR) gene, their polymorphisms, and clinical variables in women with and without FM. Methods: This is a case-control study composed of a group of 53 women with FM and another with 40 women without the disease. The McGill Pain Questionnaire, Fibromyalgia Impact Questionnaire, Pain Visual Analogue Scale and the sit-up test were applied. Real-time PCR was performed to analyze the ApaI and FokI polymorphism. Results: There was a statistical association between race, comorbidity and FM, where 78.4% of the individuals were white and had FM (p < 0.002) and 96.1% had some comorbidity (p < 0.001). Seventy-six point five percent (76.5%) of patients with FM underperformed in the sit-up test (p < 0.001). There was also an association between the genotypic and allele frequencies of the VDR and FM gene Apal and FokI polymorphisms (p < 0.001). In the VDR gene ApaI polymorphism, the CC genotype exhibited a higher frequency in women with FM, the C allele for the Apal polymorphism was 3.33 times more likely, and the FokI polymorphism was 10.9 times more likely to develop FM (p < 0,0001). Conclusion: Women with C allele for ApaI polymorphism are 3.33 times more likely to have FM (95%CI = 1.58-7.02; p = 0.0024), and in FokI polymorphism, the prevalence of T allele is 10.9 times greater (95% CI = 4.76-25.38; p < 0.0001). No significant associations were found in relation to BsmI polymorphism and frequency alleles (p = 0.062 and p = 0.078, respectively).

Relationship Between Vitamin D Receptor Gene BsmI Polymorphism and Fibromyalgia Syndrome

“…Our results are in agreement with other studies. Santos et al observed that no significant differences in the distribution of the genotypes and alleles frequency of the VDR gene BsmI polymorphism among FMS patients and controls in Brazilian women (p=0.06 and p=0.07) [ 27 ]. In addition, we did not find any critical interaction between the VDR gene BsmI polymorphism and clinical symptoms among FMS patients (p>0.05) in this study.…”

A Comprehensive Review of the Genetic and Epigenetic Contributions to the Development of Fibromyalgia

“…Vitamin D expression and regulation differs in patients with FM. The Apal and Fokl polymorphisms of the Vitamin D receptor (VDR) gene are associated with the development of FM [ 102 ]. Specifically, women with the C allele for Apal polymorphism are 3.33 times more likely to have FM, and women with the T allele for Fokl polymorphism are 10.9 times more likely to have FM.…”