13 research outputs found
Lack of association between the CARD10 rs6000782 polymorphism and type 1 autoimmune hepatitis in a Japanese population
Background: Previous genome-wide association studies have evaluated the impact of common genetic variants and identified several non-HLA risk loci associated with autoimmune liver diseases. More recent genome-wide association studies and replication analyses reported an association between variants of the CARD10 polymorphism rs6000782 and risk of type 1 autoimmune hepatitis (AIH). In this case-control study, we genotyped 326 Japanese AIH patients and 214 control subjects. Results: Genomic DNA from 540 individuals of Japanese origin, including 326 patients with type-1 AIH and 214 healthy controls, was analyzed for two single nucleotide polymorphisms (SNPs) in the CARD10 gene. We selected CARD10 rs6000782 SNPs and genotyped these using PCR-RFLP method and direct sequencing. The Chi square test revealed that the rs6000782 variant alle (c) was not associated with the susceptibility for AIH in a Japanese population [p = 0.376, odds ratio (OR) 1.271, 95 % confidence interval (CI) 0.747-2.161] in an allele model. Our data also showed that CARD10 rs6000782 variants were not associated with AIH or with the clinical parameters of AIH. Conclusions: In this study we examined an association between rs6000782 SNPs in the CARD10 gene and type-1 AIH. Results showed no significant association of rs62000782 with type-1 AIH in a Japanese population. This study demonstrated no association between CARD10 rs6000782 variants and AIH in a Japanese population
Circulating microRNA Profiles in Patients with Type-1 Autoimmune Hepatitis
<div><p>Recent studies have demonstrated that micro (mi)RNA molecules can be detected in the circulation and can serve as potential biomarkers of various diseases. This study used microarray analysis to identify aberrantly expressed circulating miRNAs in patients with type 1 autoimmune hepatitis (AIH) compared with healthy controls. Patients with well-documented and untreated AIH were selected from the National Hospital Organization (NHO)-AIH-liver-network database. They underwent blood sampling and liver biopsy with inflammation grading and fibrosis staging before receiving treatment. To further confirm the microarray data, circulating expression levels of miR-21 and miR-122 were quantified by real-time quantitative polymerase chain reaction in 46 AIH patients, 40 patients with chronic hepatitis C (CHC), and 13 healthy controls. Consistent with the microarray data, serum levels of miR-21 were significantly elevated in AIH patients compared with CHC patients and healthy controls. miR-21 and miR-122 serum levels correlated with alanine aminotransferase levels. Circulating levels of miR-21 and miR-122 were significantly reduced in AIH patients with liver cirrhosis, and were inversely correlated with increased stages of fibrosis. By contrast, levels of circulating miR-21 showed a significant correlation with the histological grades of inflammation in AIH. We postulate that aberrantly expressed serum miRNAs are potential biomarkers of AIH and could be implicated in AIH pathogenesis. Alternations of miR-21 and miR-122 serum levels could reflect their putative roles in the mediation of inflammatory processes in AIH.</p></div
Differentially expression miRNAs between control and AIH.
<p>Differentially expression miRNAs between control and AIH.</p
STAT4 rs7574865 polymorphism in patients with type-1 AIH without other autoimmune diseases.
<p>Abbreviation: AIH; autoimmune hepatitis, OR; odds ratio, CI; confidence interval, STAT4; signal transducer and activator or transcription.</p>a<p>Genotype frequencies were determined by χ2 test using 2×3 contingency tables between patients with AIH and healthy controls. Allele frequencies were determined by χ2 test using 2×2 contingency tables between patients with AIH and healthy controls.</p
Distribution of HLA-DR alleles distribution in patients with type-1 AIH.
<p>HLA-DRB1 allele was assessed by cis-square test. The probability values were corrected (<i>Pc</i>) for multiple testing (Bonferroni correction).</p
STAT4 rs7582694 polymorphism in patients with type-1 AIH and controls.
<p>Abbreviation: AIH; autoimmune hepatitis, OR; odds ratio, CI; confidence interval, STAT4; signal transducer and activator or transcription.</p>a<p>Genotype frequencies were determined by χ2 test using 2×3 contingency tables between patients with AIH and healthy controls. Allele frequencies were determined by χ2 test using 2×2 contingency tables between patients with AIH and healthy controls.</p
Baseline Characteristics of 46 Japanese AIH Type 1 Patients.
<p>AST, aspartate aminotransferase; ALT, alanine aminotransferase; ALP, alkaline phosphate; IgG, immunoglobulin G; ANA, anti-nuclear antibody; ASMA, anti-smooth muscle antibody; IQR, interquartile range; IAIHG, International Autoimmune Hepatitis Group.</p