PW03-014 - TLR4 and MEFV variants are Behçet's risk factors
نویسندگان
چکیده
Introduction Genome-wide association studies (GWAS) are a powerful means for identifying genes with disease-associated common variants, but they are not well-suited to detect genes with disease-associated rare or low-frequency variants. It has long been debated whether the innate immune system is involved in the pathogenesis of Behçet’s disease (BD) but genetic evidence to support this hypothesis is sparse.
منابع مشابه
PW03-029 – Risk factors for AA-type amyloidosis in Germany
Methods Seventy-three patients with FMF and 39 patients with active systemic inflammation due to autoimmune or idiopathic inflammation were evaluated in our reference center for amyloidosis. Mutations in MEFV and the SAA-1 exon 3 variants were analyzed for their contribution to AA risk. Amyloidosis was detected in all cases by congo red staining of kidney or bowel biopsy specimens and AA was cl...
متن کاملMediterranean fever (MEFV) variant P369S/R408Q in a patient with entero-Behçet's disease who successfully responded to treatment with colchicine.
A 57-year-old Japanese woman who had been diagnosed as having entero-Behçet's disease nine years earlier was admitted with a persistent high-grade fever. An Mediterranean fever (MEFV) gene analysis revealed the compound heterozygous P369S-R408Q variant. She was treated with colchicine, and her symptoms immediately improved. Prednisolone (PSL) was added to treat the punched-out ulcers in the ter...
متن کاملTargeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.
Genome-wide association studies (GWAS) are a powerful means of identifying genes with disease-associated common variants, but they are not well-suited to detecting genes with disease-associated rare and low-frequency variants. In the current study of Behçet disease (BD), nonsynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL23R, CCR1, STAT4, KLR...
متن کاملMEFV, TNFRSF1A and CARD15 mutation analysis in Behçet's disease.
OBJECTIVES Given the pathological similarities between Behçet's disease (BD), Familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS) and Crohn's disease (CD) we evaluated the frequency of mutations and polymorphisms in MEFV, TNFRSF1A and CARD15 in Israeli BD patients of either Jewish or Arab descent. METHODS Fifty-four BD patients (11 Jews and 43 Arabs), evaluat...
متن کاملA novel single variant in the MEFV gene causing Mediterranean fever and Behçet’s disease: a case report
BACKGROUND Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulc...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2013