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AuthorDe Azevêdo Silva, Jaqueline
Authorde Lima, Suelen Cristina
AuthorFragoso, Thiago Sotero
AuthorCavalcanti, Catarina Addobbati Jordão
AuthorBarbosa, Alexandre Domingues
AuthorBorborema, Maria Eduarda de Albuquerque
Authorde Lucena, Thays Maria Costa
AuthorDuarte, Angela Luzia Branco Pinto
AuthorCrovella, Sergio
AuthorSandrin-Garcia, Paula
Available date2022-05-31T06:43:28Z
Publication Date2022-01-01
Publication NameInternational Journal of Immunogenetics
Identifierhttp://dx.doi.org/10.1111/iji.12576
CitationDe Azevêdo Silva, J., De Lima, S. C., Fragoso, T. S., Cavalcanti, C. A. J., Barbosa, A. D., Borborema, M. E. D. A., De Lucena, T. M. C., Duarte, A. L. B. P., Crovella, S., & Sandrin-Garcia, P. (2022). Differential distribution of vitamin D receptor (VDR) gene variants and its expression in systemic lupus erythematosus. International Journal of Immunogenetics, 49, 181– 192. https://doi.org/10.1111/iji.12576
ISSN17443121
URIhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85129881280&origin=inward
URIhttp://hdl.handle.net/10576/31705
AbstractSystemic 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.
SponsorThis work was supported by the Brazilian funding agencies: Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (Capes), Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) and Fundação de Amparo à Ciência e Tecnologia do Estado de Pernambuco (FACEPE) under Grant APQ-0952-2.02/15.
Languageen
PublisherWiley
Subjectgenetic variants
nephritis
SLE
VDR
TitleDifferential distribution of vitamin D receptor (VDR) gene variants and its expression in systemic lupus erythematosus
TypeArticle
Pagination181-192
Issue Number3
Volume Number49
ESSN1744-313X
dc.accessType Full Text


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