DOI: 10.4103/ijd.ijd_2_25 ISSN: 0019-5154

Vitamin D Receptor Gene Single Nucleotide Polymorphisms in Patients with Neurofibromatosis Type 1: An Observational Case-Control Study

Neslihan Akdogan, Tuba Candar, Erdem Karabulut, Sibel Ersoy-Evans
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Abstract

Background:

Vitamin D has significant effects on neurofibroma development in patients with neurofibromatosis type 1 (NF1). Additionally, vitamin D receptor ( VDR ) gene polymorphisms are associated with various cancers.

Aims and Objectives:

This study aimed to determine the correlation between NF1 and the serum vitamin D level, along with the VDR single nucleotide polymorphisms (SNPs) Fok1, Bsm1, Taq1, Apa1 , and Cd × 2 .

Materials and Methods:

This observational study included 64 patients with NF-1 and 64 age- and gender-matched controls. The serum 25(OH) D3 level was measured, and 5 VDR SNPs were analysed.

Results:

The median serum 25(OH) D3 level was lower in the NF1 patients than in the controls ( P < 0.001). Heterozygous and mutant type FokI and TaqI polymorphisms decrease the risk of NF1, whereas mutant and heterozygous ApaI polymorphisms increase the risk of NF1. The primary limitation of this study is its small population. Extrapolation of the present findings to the general Turkish population may not be valid. Causality was not assessed due to case-control design of the study.

Conclusion:

The findings indicate that some alleles of FokI, ApaI , and TaqI nucleotides are strongly associated with NF1. Additionally, there is a possible role for vitamin D and VDR gene SNP pathways in the pathogenesis of NF1.

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