Vitamin D binding protein genotype frequency in familial Mediterranean fever patients

Orhan C., Seyhan B., Baykara O., Yildiz M. , Kasapcopur Ö. , Buyru N.

SCANDINAVIAN JOURNAL OF RHEUMATOLOGY, vol.49, no.6, pp.484-488, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 49 Issue: 6
  • Publication Date: 2020
  • Doi Number: 10.1080/03009742.2020.1762922
  • Page Numbers: pp.484-488


Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent short episodes (1-3 days) of inflammation and fever. FMF is associated withMEFVgene mutations but some patients with FMF symptoms do not have a mutation in the coding region of theMEFVgene. Vitamin D binding protein (VDBP) has important functions, including transporting vitamin D and its metabolites to target cells. Circulating levels of vitamin D are decreased in several inflammatory conditions, including FMF. Thus, we hypothesize that VDBP may play a crucial role in FMF pathogenesis, in addition to theMEFVgene. Method:VDBPgenotyping was performed by polymerase chain reaction (PCR)-restriction fragment length polymorphism in 107 FMF patients and 25 healthy individuals without FMF or family history. For this, after amplification of genomic DNA, PCR products were digested with restriction enzymesHaeIIIandStyIand evaluated electrophoretically. Results: We observed a statistically significant difference in the frequency of the 1F-2 genotype. The frequency of allele 2 was significantly higher and allele 1S was significantly lower compared to the [MEFV(-)] group and healthy controls (p = 0.034, 0.001, and 0.012, respectively). We observed a significant association between the presence of allele 2 and amyloidosis (p = 0.026) and arthritis (p = 0.044) in the [MEFV(-)] group. Conclusion: Our results suggest that FMF symptoms in the absence ofMEFVgene mutations may be due to the presence ofVDBPallele 2. Therefore,VDBPgenotype may explain the symptoms in FMF [MEFV(-)] patients.