%0 Journal Article
%T Juvenile-onset systemic lupus erythematosus and MEFV polymorphism: A case-control association study among Iranian children.
%A Mohebichamkhorami F
%A Shiari R
%A Afzali S
%A Farivar S
%J Reumatol Clin (Engl Ed)
%V 19
%N 6
%D 2023 Jun-Jul
%M 37286266
暂无%R 10.1016/j.reumae.2022.07.003
%X <B>OBJECTIVE: </B>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.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.