Abstract
Vitamin D (VitD) is critical for the regulation of inflammatory processes, and VitD deficiency has been linked to several chronic inflammatory disorders. We aimed to investigate the concentrations of serum 25(OH)D3, lipid parameters, and three known VDR polymorphisms (BsmI, FokI, and TaqI) in patients with Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease. The study included 123 FMF patients and 105 controls. Seventy patients had no attack (group 1), 30 had 1-2 attacks (group 2), and 23 had 3 or more attacks (group 3) within last three months. Serum 25(OH)D3 concentrations were determined using liquid chromatography-tandem mass spectrometry. BsmI, FokI, and TaqI polymorphisms were analyzed by a competitive allele specific polymerase chain reaction assay (KASPar). Serum lipid parameters were measured with enzymatic colorimetric methods. 25(OH)D3 concentrations were lower in FMF patients compared to controls (p < 0.001). No difference was observed in 25(OH)D3 concentration between groups 1, 2, and 3. The distributions of FokI and TaqI genotypes were not significantly different between FMF patients and controls. There was a significant difference in the distribution of AA BsmI genotype between male FMF patients and male controls. Increased concentrations of triglycerides (p = 0.012) and decreased concentrations of high-density lipoprotein cholesterol [HDL-C] (p = 0.006) were found in FMF patients compared to controls. Although lower 25(OH)D3 concentrations were observed in FMF patients versus controls, no association was determined between FMF attack frequency and 25(OH)D3 concentrations. We showed that the AA genotype of BsmI polymorphism is associated with FMF in males but not in females. The effects of decreased HDL-C and increased triglyceride concentrations on cardiovascular events in FMF patients should be further investigated.
Highlights
Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease, is characterized by recurrent fever, abdominal attacks, prodromes, and pericarditis [1]
This study provides important clues on the role of Vitamin D (VitD), BsmI, FokI, and TaqI polymorphisms and serum lipids in FMF
Mutations in the Mediterranean fever (MEFV) gene were detected in 96/123 FMF patients
Summary
Familial Mediterranean fever (FMF), an autosomal recessive autoinflammatory disease, is characterized by recurrent fever, abdominal attacks, prodromes, and pericarditis [1]. Mutations in the Mediterranean fever (MEFV) gene, encoding the protein pyrin, are found in many FMF cases, including mutations in the exons 1, 2, 3, 5, 9, and 10. Abnormal activation of the innate immune system is associated with the pathogenesis of autoinflammatory diseases [6,7]. The proposed molecular mechanism in the pathogenesis of FMF is increased inflammasome activation due to decreased expression of pyrin [8]. The regulation of pro-inflammatory transcription factor and cytokine gene expressions in the inflammatory process leads to the inhibition of lymphocyte proliferation and secretion of cytokines [10,11]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
