Impact of vitamin D receptor gene polymorphisms on vitiligo susceptibility and clinical features in a Southeastern European Caucasian population

Katsarou,Martha‑Spyridoula; Sidiropoulou,Polytimi; Ieronymaki,Dimitra; Mastraftsi,Styliani; Sifaki,Maria; Xenos,Kyriakos; Nosyrev,Alexander; Kovatsi,Leda; Spandidos,Demetrios A.; Lagiou,Maria; Dagklis,Christos; Gregoriou,Stamatis; Tagka,Anna; Rigopoulos,Dimitris; Drakoulis,Nikolaos; Nicolaidou,Electra

doi:10.3892/ijmm.2020.4732

Impact of vitamin D receptor gene polymorphisms on vitiligo susceptibility and clinical features in a Southeastern European Caucasian population

Authors:
- Martha‑Spyridoula Katsarou
- Polytimi Sidiropoulou
- Dimitra Ieronymaki
- Styliani Mastraftsi
- Maria Sifaki
- Kyriakos Xenos
- Alexander Nosyrev
- Leda Kovatsi
- Demetrios A. Spandidos
- Maria Lagiou
- Christos Dagklis
- Stamatis Gregoriou
- Anna Tagka
- Dimitris Rigopoulos
- Nikolaos Drakoulis
- Electra Nicolaidou
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Affiliations: Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, 15784 Athens, Greece, 1st Department of Dermatology‑Venereology, Faculty of Medicine, National and Kapodistrian University of Athens, ‘A. Sygros’ Hospital for Skin and Venereal Diseases, 16121 Athens, Greece, Department of Dermatology‑Venereology, ‘A. Sygros’ Hospital for Skin and Venereal Diseases, 16121 Athens, Greece, Institute for Translational Medicine and Biotechnology, I.M. Sechenov First Moscow State Medical University (Sechenov University), 119146 Moscow, Russia, Laboratory of Forensic Medicine and Toxicology, School of Medicine, Aristotle University of Thessaloniki, 54640 Thessaloniki, Greece, Laboratory of Clinical Virology, Medical School, University of Crete, 71003 Heraklion, Greece, Department of Statistics and Insurance Science, University of Piraeus, 18534 Piraeus, Greece
Published online on: September 18, 2020 https://doi.org/10.3892/ijmm.2020.4732
Pages: 1899-1907
Copyright: © Katsarou et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

An association of vitamin D receptor (VDR) polymorphisms and vitiligo has been suggested. However, previous studies have reported contradictory results while including limited data among Caucasians. The aim of this single‑center study was to evaluate the effect of three common VDR gene polymorphisms (FokI, TaqI and BsmI) on susceptibility and clinical aspects of vitiligo in a Southeastern European Caucasian population. A total of 110 unrelated vitiligo cases and 509 general population controls were enrolled from October 2018 to November 2019. Genomic DNA was extracted from whole blood after de‑identification and anonymization of the samples and genotyped for the selected VDR polymorphisms by the qPCR (melting curve analysis). Subgroup analysis by clinical features among subsets of patients indicated that, compared to subjects with the FokI TT genotype or T allele, carriers of the FokI CC genotype or C allele exhibited significantly decreased risk of developing vitiligo before the age of 30 [TT vs. CC: odds ratio (OR)=0.286, 95% confidence interval (CI): 0.083‑0.984, P=0.041; T vs. C: OR=0.545, 95% CI: 0.313‑0.948, P=0.031]. Intra‑patient analysis also revealed that, compared to T allele, the presence of TaqI C allele was adversely associated with the incidence of concurrent leukotrichia (T vs. C: OR=1.874, 95% CI: 1.018‑3.451, P=0.042). Comparisons between the case and control groups showed no evidence to support an association between susceptibility to vitiligo and the VDR BsmI, TaqI, and FokI polymorphisms in this cohort. Thus, the studied VDR polymorphisms might indirectly impact the clinical course and treatment decision‑making despite their lack of association with vitiligo per se. Further research with larger sample sizes, especially across Caucasian individuals, should be performed to confirm these findings.

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