• Eguchi, Katsumi
• Sato, Shuzo
• Umeda, Masataka
• Ueki, Yukitaka
• Nonaka, Fumiaki
• Shimizu, Toshimasa
• Koga, Tomohiro
• Suzuki, Eiji
• Nakamura, Tadashi
• Kobayashi, Hiroko
• Furukawa, Hiroshi
• Yashiro, Makiko
• Watanabe, Hiroshi
• Migita, Kiyoshi
• Kawakami, Atsushi

Abstract

<jats:sec><jats:title>Abstract</jats:title><jats:p>Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder in which inflammasome activation plays a pathophysiological role. In view of the inflammatory nature of AOSD, we investigated whether serum amyloid A (SAA) gene polymorphisms affect the susceptibility of patients with AOSD.</jats:p><jats:p>Eighty-seven Japanese patients with AOSD and 200 healthy Japanese subjects were recruited in this study. The genotypes of the -13C/T SNP in the 5′-flanking region of the <jats:italic toggle="yes">SAA1</jats:italic> gene (rs12218) and two SNPs within exon 3 of SAA1 (2995C/T and 3010C/T polymorphisms) were determined using polymerase chain reaction fragment length polymorphism (PCR-RFLP) assay in all subjects. In AOSD patients, exons 1, 2, 3, and 10 of the <jats:italic toggle="yes">MEFV</jats:italic> gene were also genotyped by direct sequencing.</jats:p><jats:p>The frequency of the S<jats:italic toggle="yes">AA1.3</jats:italic> allele was increased in AOSD patients compared with that in healthy subjects (43.1% versus 37.5%), but the difference was not significant. The −13T allele was more frequently observed in AOSD patients than in healthy subjects (50.6% versus 41.0%, <jats:italic toggle="yes">P</jats:italic> = .0336). AOSD patients with the −13T allele had been treated with immunosuppressants more frequently than those without this allele. <jats:italic toggle="yes">MEFV</jats:italic> mutations were detected in 49 patients with AOSD (49/87, 57.3%). AOSD patients with <jats:italic toggle="yes">MEFV</jats:italic> variants frequently exhibit macrophage activation syndrome, but the difference was not significant (34.7% versus 18.4%, <jats:italic toggle="yes">P</jats:italic> = .081). Also, there was no significant difference in SAA1 -13C/T allele frequency between AOSD patients with and without <jats:italic toggle="yes">MEFV</jats:italic> mutations.</jats:p><jats:p>Our data shows a significant association between T allele of rs12218 and AOSD in Japanese population.</jats:p></jats:sec>

Topics

• impedance spectroscopy
• activation
• size-exclusion chromatography
• susceptibility