Wael M Saudi1, Mervat M Swelam2, Rasha A H El-Barbary2, Lola Zakaria2, Dalia A Gaber3. 1. Dermatology and Venerology Department, Faculty of Medicine, Misr University for Science and Technology, Cairo, Egypt. 2. Dermatology and Venerology Department, Faculty of Medicine for Girls, Al-Azhar University, Cairo, Egypt. 3. Medical Biochemistry and Molecular Biology Department, Faculty of Medicine, Helwan University, Cairo, Egypt.
Abstract
BACKGROUND: Vitiligo is an autoimmune dermatological disorder, precipitated by genetic and nongenetic factors leading to destruction of epidermal melanocytes. In Egypt, it has a prevalence rate of 1.2%. Vitamin D has stimulatory and protective effects on melanocytes and acts through its nuclear vitamin D receptor (VDR) on target cells. The consequences of polymorphisms in VDR have been previously studied for mapping their link with various disorders of autoimmune etiology. AIM OF THIS WORK: To study Apa-I and Taq-I VDR single-nucleotide polymorphisms (SNPs) and the risk to develop vitiligo. METHODS: Extracted genomic DNA from the venous blood of 60 patients and controls was amplified and analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for analysis of VDR gene polymorphisms. Serum 25-hydroxyvitamin D3 (25-OH-D3) level was measured using ELISA technique. RESULTS: The most common VDR genotypes were AA and TT among both groups with no significant difference. Analysis of the frequency of combinations of genotypes revealed AATT as the most common among patients (36.7%) while in the control group, AATt is the most common (33.3%) but no significant difference was noted on comparison of both groups. The genotype allele tt appeared to be more expressed in patients with marginal significance value (P 0.053). Serum 25-OH-D3 showed a relatively decreased level among patients and controls with no statistically significant difference. CONCLUSION: Although VDR SNPs are not correlated with vitiligo, the elevated frequency of tt genotype among vitiligo patients may suggest the risk to develop the disease.
BACKGROUND: Vitiligo is an autoimmune dermatological disorder, precipitated by genetic and nongenetic factors leading to destruction of epidermal melanocytes. In Egypt, it has a prevalence rate of 1.2%. Vitamin D has stimulatory and protective effects on melanocytes and acts through its nuclear vitamin D receptor (VDR) on target cells. The consequences of polymorphisms in VDR have been previously studied for mapping their link with various disorders of autoimmune etiology. AIM OF THIS WORK: To study Apa-I and Taq-I VDR single-nucleotide polymorphisms (SNPs) and the risk to develop vitiligo. METHODS: Extracted genomic DNA from the venous blood of 60 patients and controls was amplified and analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for analysis of VDR gene polymorphisms. Serum 25-hydroxyvitamin D3 (25-OH-D3) level was measured using ELISA technique. RESULTS: The most common VDR genotypes were AA and TT among both groups with no significant difference. Analysis of the frequency of combinations of genotypes revealed AATT as the most common among patients (36.7%) while in the control group, AATt is the most common (33.3%) but no significant difference was noted on comparison of both groups. The genotype allele tt appeared to be more expressed in patients with marginal significance value (P 0.053). Serum 25-OH-D3 showed a relatively decreased level among patients and controls with no statistically significant difference. CONCLUSION: Although VDR SNPs are not correlated with vitiligo, the elevated frequency of tt genotype among vitiligo patients may suggest the risk to develop the disease.