Full Papers
The possession of exon 2 or exon 3 variants in the MEFV gene promotes inflammasome activation in Japanese patients with familial Mediterranean fever with a heterozygous exon 10 mutation
Y. Endo1, T. Koga2, K. Hara3, K. Furukawa4, K. Agematsu5, A. Yachie6, J. Masumoto7, K. Migita8, A. Kawakami9
- Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Medical Sciences, Nagasaki, Japan.
- Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Medical Sciences, Nagasaki, Japan. tkoga@nagasaki-u.ac.jp
- Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Medical Sciences, Nagasaki, Japan.
- Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Medical Sciences, Nagasaki, Japan.
- Department of Infection and Host Defense, Graduate School of Medicine, Shinshu University, Matsumoto, Japan.
- Department of Paediatrics, School of Medicine, Kanazawa University, Japan.
- Proteo-Science Centre, Ehime University, Matsuyama, Japan.
- Department of Rheumatology, Fukushima Medical University School of Medicine, Fukushima, Japan.
- Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Medical Sciences, Nagasaki, Japan.
CER13182
2020 Vol.38, N°5 ,Suppl.127
PI 0049, PF 0052
Full Papers
Free to view
(click on article PDF icon to read the article)
PMID: 33331265 [PubMed]
Received: 06/02/2020
Accepted : 08/06/2020
In Press: 10/12/2020
Published: 10/12/2020
Abstract
OBJECTIVES:
The modification and pathogenesis of MEFV exon 2 or 3 variants in familial Mediterranean fever (FMF) remains unclear. We compared the clinical and laboratory characteristics between the coexistence and noncoexistence of MEFV exon 2 or 3 variants in patients with FMF that had a heterozygous MEFV exon 10 mutation.
METHODS:
We excluded patients with FMF that had two MEFV exon 10 mutations in one or more alleles and/or MEFV mutations in exons other than in exons 2, 3, or 10. Finally, we reviewed 131 Japanese patients with FMF that had a heterozygous MEFV exon 10 mutation, and they were divided into the groups with and without MEFV exon 2 or 3 variants of 97 and 34, respectively.
RESULTS:
All patients with MEFV exon 2 variants had either E148Q and/or L110P variants, none of patients had exon 3 variants. In the univariate analysis, the group with variants had significantly earlier onset, a higher percentage of thoracic pain with febrile attacks, a higher frequency of attack, and a higher IL-18 level at remission compared to the group without variants (all, p<0.05). Importantly, multivariate analyses showed that the coexistence of MEFV exon 2 variants was independently and significantly associated with earlier onset of FMF and thoracic pain (both, p<0.05).
CONCLUSIONS:
Our results suggested that coexistence of MEFV exon 2 variants have additional effects on manifestations of FMF with MEFV exon 10 mutations. Our findings highlighted the modifications and pathogenesis of such MEFV variants in FMF.
