Title:Genetic Association of VDR gene Apa1 and Taq1 Variants with Scleroderma in an Iranian Northeast Population
Volume: 19
Issue: 1
Author(s): Seyedeh Zahra Mirfeizi, Majid Nabizadeh-Marvast, Mohammad-Hassan Jokar, Houshang Rafatpanah, Kamila Hashemzadeh and Hassan Mehrad-Majd*
Affiliation:
- Cancer Molecular Pathology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
Keywords:
Scleroderma, systemic sclerosis, vitamin D receptor, VDR, polymorphism, homeostasis.
Abstract: Background: Despite vigorous research efforts, the etiology of scleroderma (systemic
sclerosis (SSc)) remains still unclear and both genetic and environmental factors clearly contribute
to the pathogenesis of scleroderma. Reports of aberrant vitamin D status in scleroderma patients
suggest a need for considering the genotype and allele frequencies of VDR gene polymorphisms.
This case-control study aimed to investigate the possible association of two common polymorphisms
of the VDR gene (ApaI, and TaqI) with susceptibility to scleroderma in an Iranian population.
Methods: Using polymerase chain reaction and restriction fragment length polymorphism (PCRRFLP),
ApaI and TaqI polymorphisms in the VDR region were genotyped in 51 patients with scleroderma
and 50 healthy controls. Logistic regression analysis was performed to calculate the genotypes
odds ratios (ORs) as a measure of association with the presence of scleroderma. Haplotype
and linkage disequilibrium analyses were also performed on the detected genotypes.
Results: No significant differences were found for the allelic and genotype distributions of ApaI
and TaqI polymorphisms between patients with scleroderma and healthy controls (p>0.05). In haplotype
analysis, three haplotypes TA, CA, and TC, with a frequency greater than 1% were identified.
However, none of them was associated with the risk of scleroderma.
Conclusion: Our preliminary study showed no evidence of an association between ApaI and TaqI
polymorphisms and scleroderma. As the association between VDR polymorphisms and autoimmune
diseases varies across the different ethnic populations, further large cohort studies are necessary to
confirm the results.
