Increased prevalence of MEFV exon 10 variants in Japanese patients with adult‐onset Still's disease. (March 2015)

• Record Type: Journal Article
• Authors: Nonaka, F.; Migita, K.; Jiuchi, Y.; Shimizu, T.; Umeda, M.; Iwamoto, N.; Fujikawa, K.; Izumi, Y.; Mizokami, A.; Nakashima, M.; Ueki, Y.; Yasunami, M.; Kawakami, A.; Eguchi, K.
• Is Part Of: Clinical and experimental immunology. Volume 179:Number 3(2015:Mar.)
• Page Start: 392
• Page End: 397
• Publication Date: 2015-03
• Subjects: Immunopathology -- Periodicals; 616.079
• DOI: 10.1111/cei.12463
• Languages: English
• ISSNs: 0009-9104

Abstract

<abstract abstract-type="main"> <title>Summary</title> <p>Autoinflammatory diseases include a large spectrum of monogenic diseases, e.g. familial Mediterranean fever (FMF), as well as complex genetic trait diseases, e.g. adult‐onset Still's disease (AOSD). In populations where FMF is common, an increased <italic>MEFV</italic> mutation rate is found in patients with rheumatic diseases. The aim of this study was to examine <italic>MEFV</italic> mutations in Japanese patients with AOSD. Genomic DNA was isolated from 49 AOSD patients and 105 healthy controls, and exons 1, 2, 3 and 10 of the <italic>MEFV</italic> gene genotyped by direct sequencing. <italic>MEFV</italic> mutation frequencies in AOSD patients were compared with controls. We found no significant difference in overall allele frequencies of <italic>MEFV</italic> variants between AOSD patients and controls. However, <italic>MEFV</italic> exon 10 variants (M694I and G632S) were significantly higher in AOSD patients than controls (6·1 <italic>versus</italic> 0%). In addition, there was no significant difference between <italic>MEFV</italic> variant carriers and non‐carriers with clinical manifestations, but the monocyclic clinical course of the AOSD disease phenotype was observed less frequently in patients without <italic>MEFV</italic> variants. AOSD patients had significantly higher frequencies of <italic>MEFV</italic> exon 10 mutations, suggesting that low‐frequency variants of <italic>MEFV</italic> gene may be one of the susceptibility factors of AOSD.</p> </abstract>