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http://purl.uniprot.org/citations/15004750http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/15004750http://www.w3.org/2000/01/rdf-schema#comment"Sarcoidosis is known to be a systemic granulomatous disorder characterized by a cell-mediated Th1-type inflammatory response. To identify a key genetic factor in the pathogenesis of sarcoidosis, we investigated single nucleotide polymorphisms within 10 candidate genes involved in type 1 immune process ( IFNA17, IFNB, IFNG, IFNGR1, IFNGR2, IL12B, IL12RB1, IL12RB2, ETA-1, and NRAMP1) in an association-based study of 102 Japanese patients with sarcoidosis, 114 with tuberculosis, and 110 control subjects. After correction for multiple testing, an IFNA17 polymorphism (551T-->G) was found to be associated with susceptibility to sarcoidosis (odds ratio 3.27 [95% CI: 1.44-7.46], P=0.004, P(c)=0.04), but not to tuberculosis. We observed no significant associations with the other polymorphisms of the Th1-related genes. We further typed another IFNA polymorphism ( IFNA10 60T-->A) and confirmed two major haplotypes of the IFNA gene, viz., allele 1: IFNA10 [60T]-IFNA17 [551T] and allele 2: IFNA10 [60A]-IFNA17 [551G], in the Japanese population. In healthy subjects, IFNA allele 2, which is over-represented in patients with sarcoidosis, was significantly associated with increased IFN-alpha and IL-12p70 production induced by Sendai virus in vitro. This study suggests that possession of the IFNA allele with higher levels of IFN-alpha significantly increases the risk of sarcoidosis."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.org/dc/terms/identifier"doi:10.1007/s00439-004-1099-5"xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Nakashima K."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Matsuda A."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Ohno S."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Shirakawa T."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Miyake K."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Ishihara M."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Nakashima H."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Casanova J.L."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Enomoto T."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Hopkin J.M."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Hirota T."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Tamari M."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Kanda M."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Akahoshi M."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Uno K."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Mao X.Q."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/author"Remus N."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/date"2004"xsd:gYear
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/name"Hum Genet"xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/pages"503-509"xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/title"Association between IFNA genotype and the risk of sarcoidosis."xsd:string
http://purl.uniprot.org/citations/15004750http://purl.uniprot.org/core/volume"114"xsd:string