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Mol Genet Genomic Med ; 7(12): e1014, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31642196

RESUMO

BACKGROUND: CD40 is a transmembrane protein mainly expressed on the antigen-presenting cells surface. CD40 plays a crucial role in immunoglobulin class switching and antibodies production. Genetic polymorphisms in the CD40 gene have been associated with increased risk of systemic lupus erythematosus (SLE) in several populations. This study aimed to evaluate the association of CD40 polymorphisms (-1 C > T, rs1883832 and 6,048 G > T, rs4810485) with SLE susceptibility, as well as with mRNA expression and soluble CD40 (sCD40) levels. METHODS: The study included 293 patients with SLE and 294 control subjects (CS). Genotyping was performed by PCR-RFLP method. CD40 mRNA expression was determined by quantitative real-time PCR, and ELISA quantified sCD40 levels. RESULTS: The CD40 polymorphisms -1 C > T and 6,048 G > T were associated with SLE susceptibility. There was no difference between CD40 mRNA expression and CD40 polymorphisms. The sCD40 levels were lower in SLE patients with TT haplotype, whereas higher sCD40 levels were associated with damage and impaired renal function according to SLICC and KDIGO. The sCD40 levels were negatively correlated with eGFR. CONCLUSION: The CD40 gene polymorphisms increase the risk of SLE in the western Mexican population. The sCD40 levels are associated with -1 C > T polymorphism and chronic kidney disease.


Assuntos
Antígenos CD40/genética , Lúpus Eritematoso Sistêmico/genética , Polimorfismo Genético , Insuficiência Renal Crônica/genética , Adulto , Antígenos CD40/metabolismo , Regulação para Baixo , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Lúpus Eritematoso Sistêmico/metabolismo , Masculino , México , Pessoa de Meia-Idade , Insuficiência Renal Crônica/metabolismo
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