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A-1012G promoter polymorphism of vitamin D receptor gene is associated with psoriasis risk and lower allele-specific expression.

Abstract
Psoriasis is caused by a combination of genetic, immunologic, and environmental factors. The vitamin D receptor (VDR) is involved in antiproliferative and prodifferentiation pathways in keratinocytes and exerts immunosuppressive effects. We aimed to investigate possible associations between VDR polymorphisms and psoriasis susceptibility and to evaluate functional effects of potential psoriasis-associated polymorphisms. We genotyped 108 patients with psoriasis and 268 healthy controls at 5 VDR polymorphisms (A-1012G, FokI, BsmI, ApaI, and TaqI) by TaqMan allelic-discrimination real-time polymerase chain reaction. We found a significant increased overall risk of psoriasis for the VDR A-1012G promoter polymorphism (odds ratio [OR]=2.43, 95% confidence interval [CI]: 1.15-5.13; p=0.05). A significant higher frequency (p=0.035) of the A allele was found in psoriatic cases compared with controls. In a case-case analysis, a statistically significant association between A-1012G and family history emerged (p=0.033). Furthermore, a significant association of A-1012G risk genotypes with a lower expression of VDR mRNA emerged (p=0.0028). Our data show that VDR promoter A-1012G polymorphism is associated with psoriasis risk and suggest that this polymorphism may modulate psoriasis risk by affecting VDR expression.
AuthorsAntonio Giovanni Richetta, Valentina Silvestri, Simona Giancristoforo, Piera Rizzolo, Sara D'Epiro, Veronica Graziano, Carlo Mattozzi, Anna Sara Navazio, Marco Campoli, Cristina D'Amico, Marco Scarnò, Stefano Calvieri, Laura Ottini
JournalDNA and cell biology (DNA Cell Biol) Vol. 33 Issue 2 Pg. 102-9 (Feb 2014) ISSN: 1557-7430 [Electronic] United States
PMID24320988 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Receptors, Calcitriol
Topics
  • Analysis of Variance
  • Case-Control Studies
  • Gene Expression Regulation (genetics)
  • Genetic Predisposition to Disease (genetics)
  • Genotype
  • Humans
  • Italy
  • Odds Ratio
  • Polymorphism, Single Nucleotide (genetics)
  • Promoter Regions, Genetic (genetics)
  • Psoriasis (genetics)
  • Real-Time Polymerase Chain Reaction
  • Receptors, Calcitriol (genetics, metabolism)

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