18 research outputs found
The Contribution of SAA1 Polymorphisms to Familial Mediterranean Fever Susceptibility in the Japanese Population
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-1Ī²) gene polymorphisms may affect the susceptibility of Japanese patients with FMF. The genotypes of the -13C/T SNP in the 5ā²-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-1Ī²-511 (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-1Ī² -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 5ā²-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
Frequencies of <i>SAA1</i> -13C/T, <i>SAA2</i>, <i>IL1Ī²</i> -511 genotypes in Japanese patients with FMF and frequencies of <i>SAA1</i> -13C/T, <i>SAA2</i>, <i>IL1Ī²</i> -511 genotypes in healthy subjects.
a<p>Expected genotype frequencies based on observed allele frequencies and assuming Hardy-Weinberg equilibrium.</p
Frequencies of the genotypes at the <i>IL</i>-<i>1Ī²</i> -511, <i>IL-1Ra</i> and <i>SAA2</i> loci in patients with FMF and healthy subjects.
<p><i>IL-1Ī²</i>; Interleukin-<i>1Ī² .IL-1Ra</i>; Interleukin-1 receptor antagonist .<i>SAA2</i>; Serum amyloid A2. Chi-square test was used to examine differences of genotype and allele frequencies between FMF patients and healthy subjects.</p
Allele frequencies of <i>SAA1</i> gene polymorphisms in typical and incomplete FMF patients.
<p>Allele frequencies of <i>SAA1</i> gene polymorphisms in typical and incomplete FMF patients.</p
Regulation of cyclooxygenase-2 expression in human osteoblastic cells by N-acetylcysteine
Number of <i>MEFV</i> gene mutations and <i>SAA1</i> gene polymorphisms in FMF patients<b>.</b>
<p>Number of <i>MEFV</i> gene mutations and <i>SAA1</i> gene polymorphisms in FMF patients<b>.</b></p
Frequencies of the genotypes and alleles at the <i>SAA1</i> locus of Japanese patients with FMF and healthy subjects.
<p><i>SAA1</i>; Serum amyloid A1. Chi-square test was used to examine differences of genotype and allele frequencies between FMF patients and healthy subjects.</p
Frequencies of the genotypes and alleles at -13C/T <i>SAA1</i> locus of Japanese patients with FMF and healthy subjects.
<p><i>SAA1</i>; Serum amyloid A1. Chi-square test was used to examine differences of genotype and allele frequencies between FMF patients and healthy subjects.</p