Article ; Online: Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case-control association study among Iranian children.
Reumatologia clinica
2023 Volume 19, Issue 6, Page(s) 306–311
Abstract: Introduction and objectives: This study is designed to evaluate the potential influences of Mediterranean fever gene (MEFV) gene polymorphism on systemic lupus erythematosus (SLE) in a cohort of juvenile patients. A case-control study was performed on ... ...
Abstract | Introduction and objectives: This study is designed to evaluate the potential influences of Mediterranean fever gene (MEFV) gene polymorphism on systemic lupus erythematosus (SLE) in a cohort of juvenile patients. A case-control study was performed on Iranian patients with a mixed ethnicity population. Patients and methods: Genotypes of 50 juvenile cases, and 85 healthy controls were investigated for identifying M694V and R202Q polymorphism. Genotyping was done utilizing amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to detect M694V and R202Q mutations, respectively. Main findings: Our study indicates significant differences in the alleles and genotypes frequencies of MEFV polymorphism between SLE patients and healthy controls (P<0.05). Also, an association was found between renal involvement (50% vs. 8.3%, P=0.000, OR=0.91, 95% CI=0.30-0.278) in juvenile SLE patients and M694V polymorphism incident; But there was no association with other clinical manifestations. Principal conclusion: We found a significant association between R202Q and M694V polymorphism of the MEFV gene and susceptibility to SLE in the studied population; However, further studies on detailed characterization of these polymorphisms' impacts on the key elements responsible for SLE pathogenesis is of great importance. |
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MeSH term(s) | Humans ; Child ; Iran ; Case-Control Studies ; Polymorphism, Genetic ; Lupus Erythematosus, Systemic/genetics ; Lupus Erythematosus, Systemic/pathology ; Genotype ; Pyrin/genetics |
Chemical Substances | MEFV protein, human ; Pyrin |
Language | English |
Publishing date | 2023-04-12 |
Publishing country | Spain |
Document type | Journal Article |
ISSN | 2173-5743 |
ISSN (online) | 2173-5743 |
DOI | 10.1016/j.reumae.2022.07.003 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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