Association Between Vitamin D Receptor Polymorphism and Familial Mediterranean Fever Disease in Turkish Children

Kizildag S., Dedemoglu F., Anik A., Catli G., Kizildag S., ABACI A., ...More

BIOCHEMICAL GENETICS, vol.54, no.2, pp.169-176, 2016 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 54 Issue: 2
  • Publication Date: 2016
  • Doi Number: 10.1007/s10528-015-9710-0
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.169-176
  • Keywords: Familial Mediterranean fever, Vitamin D receptor, VDR polymorphisms, GENE, FOKI, BSMI, SUSCEPTIBILITY, GENOTYPE
  • Istanbul University Affiliated: No


Familial Mediterranean fever (FMF) is an autosomal recessive, inherited autoinflammatory disease characterized by recurrent, self-limited attacks of fever, and inflammation of serosal surfaces. The aim of our study was to determine a possible relationship between Vitamin D receptor (VDR) gene polymorphisms and the risk of children with FMF. We investigated VDR FokI (rs10735810), TaqI (rs731236), BsmI (rs1544410), and ApaI (rs7975232) polymorphisms in 50 children with FMF and 150 age-matched healthy control subjects. This study was performed by polymerase chain reaction-based restriction fragment length polymorphism. There was no significant difference between patients and controls for VDR FokI, TaqI, BsmI, and ApaI genotypes and alleles (p > 0.05). Results need to be supported by further investigations that define haplotype patterns for VDR gene polymorphisms in a larger group and different ethnic groups of FMF patients.