@article{oai:nagasaki-u.repo.nii.ac.jp:00008869,
 author = {Migita, Kiyoshi and Agematsu, Kazunaga and Masumoto, Junya and Ida, Hiroaki and Honda, Seiyo and Jiuchi, Yuka and Izumi, Yasumori and Maeda, Yumi and Uehara, Ritei and Nakamura, Yoshikazu and Koga, Tomohiro and Kawakami, Atsushi and Nakashima, Munetoshi and Fujieda, Yuichiro and Nonaka, Fumiaki and Eguchi, Katsumi and Furukawa, Hiroshi and Nakamura, Tadashi and Nakamura, Minoru and Yasunami, Michio},
 issue = {2},
 journal = {PLoS ONE},
 month = {Feb},
 note = {Background/Aims: Familial Mediterranean Fever (FMF) has traditionally been considered to be an autosomal-recessive disease, however, it has been observed that substantial numbers of patients with FMF possess only 1 demonstrable MEFV mutation. The clinical profile of familial Mediterranean fever (FMF) may be influenced by MEFV allelic heterogeneity and other genetic and/or environmental factors. Methodology/Principal Findings: In view of the inflammatory nature of FMF, we investigated whether serum amyloid A (SAA) and interleukin-1 beta (IL-1β) gene polymorphisms may affect the susceptibility of Japanese patients with FMF. The genotypes of the -13C/T SNP in the 5′-flanking region of the SAA1 gene and the two SNPs within exon 3 of SAA1 (2995C/T and 3010C/T polymorphisms) were determined in 83 Japanese patients with FMF and 200 healthy controls. The same samples were genotyped for IL-1β-511 (C/T) and IL-1 receptor antagonist (IL-1Ra) variable number of tandem repeat (VNTR) polymorphisms. There were no significant differences between FMF patients and healthy subjects in the genotypic distribution of IL-1β -511 (C/T), IL-1Ra VNTR and SAA2 polymorphisms. The frequencies of SAA1.1 allele were significantly lower (21.7% versus 34.0%), and inversely the frequencies of SAA1.3 allele were higher (48.8% versus 37.5%) in FMF patients compared with healthy subjects. The frequency of -13T alleles, associated with the SAA1.3 allele in the Japanese population, was significantly higher (56.0% versus 41.0%, p = 0.001) in FMF patients compared with healthy subjects. Conclusions/Significance: Our data indicate that SAA1 gene polymorphisms, consisting of -13T/C SNP in the 5′-flanking region and SNPs within exon 3 (2995C/T and 3010C/T polymorphisms) of SAA1 gene, are associated with susceptibility to FMF in the Japanese population., PLoS ONE, 8(2), e55227; 2013},
 title = {The Contribution of SAA1 Polymorphisms to Familial Mediterranean Fever Susceptibility in the Japanese Population},
 volume = {8},
 year = {2013}
}