Jaqueline De Azevêdo Silva, Suelen Cristina de Lima, Thiago Sotero Fragoso, Catarina Addobbati Jordão Cavalcanti, Alexandre Domingues Barbosa, Maria Eduarda de Albuquerque Borborema, Thays Maria Costa de Lucena, Angela Luzia Branco Pinto Duarte, Sergio Crovella, Paula Sandrin-Garcia
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引用次数: 1
Abstract
Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disorder that displays an important genetic background. Vitamin D3 (VD3) through its receptor (VDR) plays an important immunomodulatory role in autoimmune misbalance, being capable of modulating immune responses. Genetic alterations in VDR gene may contribute to an altered risk in SLE development and clinical manifestations. We investigated VDR SNPs (single nucleotide polymorphisms) frequencies in 128 SLE patients and 138 healthy controls (HC) and mRNA differential expression in 29 patients and 17 HC regarding SLE susceptibility as well as clinical features. We observed that rs11168268 G allele (OR = 1.55, p = .01) and G/G genotype (OR = 2.69, p = .008) were associated with increased SLE susceptibility. The rs2248098 G allele and A/G and G/G genotypes were associated to lower SLE susceptibility (OR = 0.66, p = .01; OR = 0.46, p = .01; OR = 0.44, p = .02, respectively). Regarding clinical features, we observed lower risk for: rs11168268 A/G genotype and nephritis (OR = 0.31, p = .01); rs4760648 T/T genotype and photosensitivity (OR = 0.24, p = .02); rs1540339 T/T genotype and antibody anti-dsDNA (OR = 0.19, p = .015); rs3890733 T/T genotype and serositis (OR = 0.10, p = .01). We identified a significant downregulation in VDR expression levels when compared patients and controls overall (p = 1.04e–7), in Cdx-2 A/G and G/G (p = .008 and p = .014, respectively) and in patients with nephritis (p = .016)
Our results suggested that VDR SNPs influence upon SLE susceptibility and in particular clinical features, acting on mRNA expression in SLE patients overall and the ones with nephritis.
期刊介绍:
The International Journal of Immunogenetics (formerly European Journal of Immunogenetics) publishes original contributions on the genetic control of components of the immune system and their interactions in both humans and experimental animals. The term ''genetic'' is taken in its broadest sense to include studies at the evolutionary, molecular, chromosomal functional and population levels in both health and disease. Examples are:
-studies of blood groups and other surface antigens-
cell interactions and immune response-
receptors, antibodies, complement components and cytokines-
polymorphism-
evolution of the organisation, control and function of immune system components-
anthropology and disease associations-
the genetics of immune-related disease: allergy, autoimmunity, immunodeficiency and other immune pathologies-
All papers are seen by at least two independent referees and only papers of the highest quality are accepted.