Vitamin D receptor polymorphisms and expression profile in rheumatoid arthritis brazilian patients

Catarina Addobbati Jordão Cavalcanti, Jaqueline de Azevêdo Silva, Will de Barros Pita, Tiago Degani Veit, Odirlei Andre Monticielo, Ricardo Machado Xavier, João Carlos Tavares Brenol, Cleiton Viegas Brenol, Thiago Sotero Fragoso, Alexandre Domingues Barbosa, Ângela Luiza Branco Pinto Duarte, Renê Donizeti Ribeiro Oliveira, Paulo Louzada-Júnior, Eduardo Antônio Donadi, Sergio Crovella, José Artur Bogo Chies, Paula Sandrin-Garcia

Research output: Contribution to journalArticlepeer-review


Rheumatoid arthritis (RA) is an autoimmune disease characterized by chronic inflammation and important joint commitment, being the most common systemic autoimmune disease worldwide. RA displays important genetic background with a variety of genes contributing to the immune balance breakdown. Recent studies have demonstrated that vitamin D, through its receptor (VDR), is able to regulate the immune balance and suppress the autoimmunity process, being a potential target in autoimmune diseases. In the present genetic association study, we assessed 5 Tag single nucleotide polymorphisms (SNPs) (rs11168268, rs2248098, rs1540339, rs4760648 and rs3890733), which cover most of the VDR gene, in three different Brazilian populations (from Northeast, Southeast and South Brazil). We also evaluated the VDR expression profile in whole blood and monocytes from RA patients. For genotyping study, 428 RA patients and 616 healthy controls were genotyped with fluorogenic allele specific probes on an ABI7500 platform. For gene expression study, VDR mRNA levels of 15 RA patients and 26 healthy individuals were assessed by RT-PCR. Our results showed that SNPs rs4760648 and rs3890733 are associated to RA susceptibility (p value = 0.0026, OR 1.31 and p value = 0.0091, OR 1.28 with statistical power = 0.999 and 0.993, respectively). Regarding RA clinical features, the studied SNPs did not show significant associations. The gene expression assays showed that VDR mRNA levels were down regulated in both whole blood (−3.3 fold) and monocytes (−3.2 fold) of RA patients when compared to healthy controls. Our results, the first reported for distinct Brazilian populations, support a role of the VDR gene in the susceptibility to RA.

Original languageEnglish
Pages (from-to)41-51
Number of pages11
JournalMolecular Biology Reports
Issue number1
Publication statusPublished - Jan 1 2016


  • Monocytes
  • mRNA
  • Rheumatoid arthritis
  • SNPs
  • VDR

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology


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