Abstract
Background
MYG1 (Melanocyte proliferating gene 1 or C12orf10) -119C/G promoter and Arg4Gln structural
polymorphisms have a functional impact on its regulation. The promoter polymorphism
was shown to be associated with vitiligo in Caucasian population.
Objective
The present study explores MYG1 polymorphisms and correlates them with MYG1 mRNA expression, disease onset and progression in vitiligo patients.
Methods
Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique
was used for genotyping of MYG1 -119C/G promoter (rs1465073) and 11-12AA/GC structural polymorphisms (rs1534284-rs1534283;
Arg4Gln) in 846 vitiligo patients and 726 age-matched unaffected controls. MYG1 mRNA levels were assessed in whole blood of 166 patients and 175 controls by Real-time
PCR.
Results
The MYG1 -119C/G promoter polymorphism was found to be in significant association with vitiligo
being ‘G’ allele prevalent in patients. However, 11-12AA/GC structural polymorphism
was prevalently monogenic in patients and controls with only MYG1 GC (4Arg) allele being present. Significant increase in MYG1 mRNA expression was observed in vitiligo patients compared to controls. The MYG1 mRNA expression was increased in patients with active and generalized vitiligo as
compared to stable and localized vitiligo. MYG1 mRNA expression was increased in patients with susceptible -119 GG genotype compared
to controls. Also, patients with susceptible -119 GG genotype had early age of onset
of vitiligo. Moreover, patients with age groups 1–20 years and 21–40 years showed
increased expression of MYG1 mRNA compared to those of controls. Female patients showed significant increase in
MYG1 mRNA and early age of onset of vitiligo compared to male patients.
Conclusion
The present study suggests that MYG1 -119C/G promoter polymorphism may be a genetic risk factor for susceptibility and
progression of vitiligo. The up-regulation of MYG1 transcript in patients with susceptible -119GG genotype advocates the crucial role
of MYG1 in autoimmune pathogenesis of vitiligo.
Keywords
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Article info
Publication history
Published online: May 23, 2013
Accepted:
April 19,
2013
Received in revised form:
March 14,
2013
Received:
September 10,
2012
Identification
Copyright
© 2013 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.
