CIITA gene polymorphism (rs3087456) in systemic lupus erythematosus and rheumatoid arthritis: A population‐based cohort study
| Autor: | José Artur Bogo Chies, Nadja Maria Jorge Asano, Gisele Vagjel Fernandes, Ricardo Machado Xavier, Denise de Queiroga Nascimento, Ronald Rodrigues de Moura, Eliezer Rushansky, Matheus da Silva Mesquita, Suelen Cristina de Lima, Isaura Isabelle Fonseca Gomes da Silva, Maria Helena Queiroz de Araújo Mariano, Paula Sandrin-Garcia, Lucila Maria Valente, Sergio Crovella |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Genotype Immunology CIITA Gene Human leukocyte antigen Major histocompatibility complex Polymorphism Single Nucleotide Arthritis Rheumatoid Cohort Studies 03 medical and health sciences 0302 clinical medicine Polymorphism (computer science) Genetics CIITA Humans Lupus Erythematosus Systemic Medicine Genetic Predisposition to Disease Allele Molecular Biology Genetics (clinical) biology business.industry Nuclear Proteins General Medicine medicine.disease 030104 developmental biology Case-Control Studies Rheumatoid arthritis Trans-Activators biology.protein business 030215 immunology |
| Zdroj: | International Journal of Immunogenetics. 48:429-434 |
| ISSN: | 1744-313X 1744-3121 |
| Popis: | Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are influenced by genetic variants in immune system HLA genes. The Class II Major Histocompatibility Complex Transactivator (CIITA) is an important co-activator of the HLA transcriptional complex; the single nucleotide variant (SNV) rs3087456 localized in the gene promoter region (-168 A/G) has been reported as able to modify its transcription level. In our study, we assessed CIITA rs3087456 SNV in 1,044 Brazilians from two Brazilian regions (Northeast and South) to verify the association with susceptibility and clinical manifestations of (SLE) and (RA) using TaqMan SNP Genotyping Assays System. We observed a protection for a recessive model (GG x AA+AG) for RA susceptibility and increased risk for erosion development in AG genotype patients. No significant association was observed for SLE susceptibility; however, we observed significant increased risk for Class IV and V nephritis development in G allele and GG genotype patients. In conclusion, we showed the contribution of CIITA rs3087456 to SLE or RA clinical features and RA susceptibility in the studied populations. |
| Databáze: | OpenAIRE |
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