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

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S Kizildag1, F Dedemoglu2, A Anik3

  • 1Department of Medical Biology, Faculty of Medicine, Dokuz Eylül University, 35340, Balcova, Izmir, Turkey. sefa.kizildag@deu.edu.tr.

Biochemical Genetics
|January 9, 2016
PubMed

Insights

This study found no significant association between Vitamin D receptor (VDR) gene polymorphisms and Familial Mediterranean fever (FMF) risk in children. Further research in diverse populations is needed to explore VDR gene variations in FMF.

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder causing recurrent fever and inflammation.
  • The role of genetic factors, including Vitamin D receptor (VDR) gene polymorphisms, in FMF susceptibility requires further investigation.

Purpose of the Study:

  • To investigate the potential association between specific VDR gene polymorphisms (FokI, TaqI, BsmI, ApaI) and the risk of FMF in pediatric patients.

Main Methods:

  • Polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) was used.
  • VDR gene polymorphisms (FokI, TaqI, BsmI, ApaI) were analyzed in 50 FMF patients and 150 healthy controls.

Main Results:

  • No statistically significant differences were observed in the genotype or allele frequencies of VDR FokI, TaqI, BsmI, and ApaI polymorphisms between FMF patients and the control group (p > 0.05).

Conclusions:

  • The studied VDR gene polymorphisms do not appear to be associated with FMF risk in this pediatric cohort.
  • Larger studies with diverse ethnic groups and haplotype analyses are recommended to fully elucidate the VDR gene's role in FMF pathogenesis.
Keywords:
Familial Mediterranean feverVDR polymorphismsVitamin D receptor

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