Study of the association between VDR gene polymorphisms and vitiligo appearance in Caucasian patients

Postgraduate Thesis uoadl:2878208 353 Read counter

Unit:
Κατεύθυνση Κοσμητολογία - Δερματοφαρμακολογία
Library of the School of Science
Deposit date:
2019-07-09
Year:
2019
Author:
Ieronymaki Dimitra
Supervisors info:
Νικόλαος Δρακούλης, Αναπληρωτής Καθηγητής Φαρμακολογίας & Κλινικής Φαρμακολογίας, Τομέας Φαρμακευτικής Τεχνολογίας, Τμήμα Φαρμακευτικής, Σχολή Επιστημών Υγείας, ΕΚΠΑ
Original Title:
Μελέτη συσχέτισης πολυμορφισμών του γονιδίου VDR με την εμφάνιση λεύκης σε καυκάσιους ασθενείς
Languages:
Greek
Translated title:
Study of the association between VDR gene polymorphisms and vitiligo appearance in Caucasian patients
Summary:
Vitiligo is a chronic systemic disorder characterized by the appearance of achromatic or hypochromic patches on the skin and mucous membranes. It is the most common discoloration disorder with incidence rates from 0.06% to 2.3% worldwide. One of the main consequences of the disease is its impact on the quality of life of the patients. Vitiligo results from loss of melanocytes, although the pathogenesis of the disease is not entirely clear. The disease has been associated with lack of the serum vitamin D. Vitamin D is a hormone that shows immunomodulatory and melanocytic actions. It works through binding to vitamin D receptor (VDR), which belongs to the nuclear receptor family. Genetic polymorphisms of the VDR gene may alter the expression of the gene, hence the amount of protein produced, or the structure of the protein and, as a result, its activity.
This study aims to investigate the association between rs2228570 (FokI), rs1544410 (BsmI) and rs731236 (TaqI) polymorphisms of the VDR gene and the appearance of vitiligo in a sample of Southeastern European Caucasian patients. The study included 87 Southeastern European Caucasian vitiligo patients from the vitiligo department of "Andreas Syngros" Hospital and 509 Southeastern European Caucasian controls. Genomic DNA was extracted from peripheral blood white blood cells, using a DNA isolation kit. The polymorphisms were analyzed using real-time PCR and melting curve analysis.
For the rs2228570 (FokI) polymorphism, 13 patients (14.94%) and 51 controls (10.02%) carried the T/T genotype, 39 patients (44.83%) and 222 controls (43.61%) carried the T/c genotype, and 35 patients (40.23%) and 236 controls (46.37%) carried the C/C genotype. The wild type T allele occurred in 37.36% of the patients and in 31.83% of the control group and the mutant C allele in 62.64% of the patients and in 68.17% of the control group. For the rs1544410 (BsmI) polymorphism, 28 patients (32.18%) and 186 controls (36.54%) carried the G/G genotype, 43 patients (49.43%) and 243 controls (47.74%) carried the G/A genotype, and 28 patients (32.18%) and 80 controls (15.72%) carried the A/A genotype. The wild type G allele occurred in 56.89% of the patients and in 60.41% of the control group and the mutant A allele in 43.10% of the patients and 39.59% of the control group. For the rs731236 (TaqI) polymorphism, 34 patients (39.08%) and 197 controls (38.70%) carried the T/T genotype, 41 patients (47.13%) and 239 controls (46.95%) carried the T/C genotype, and 12 patients (13.79%) and 73 controls (14.34%) carried the C/C genotype. The wild type T allele occurred in 62.64% of the patients and in 62.18% of the control group and the mutant C allele in 37.36% of the patients and in 37.82% of the control group.
There was no correlation between vitiligo and any of the VDR polymorphisms in this study. However, there was a correlation between the G allele of rs1544410 (BsmI) polymorphism and the early-onset vitiligo, as well as between the G/G genotype of rs1544410 (BsmI) polymorphism genotype and early-onset vitiligo. The G allele and the G/G genotype of rs1544410 (BsmI) polymorphism, and the T/T genotype of the rs731236 (TaqI) polymorphism were found to be associated with lower chance of late-onset vitiligo.
Main subject category:
Science
Other subject categories:
Health Sciences
Keywords:
vitiligo, vitamin D, vitamin D receptor, VDR gene, polymorphisms, rs2228570, rs1544410, rs731236
Index:
Yes
Number of index pages:
17
Contains images:
Yes
Number of references:
195
Number of pages:
117
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