title: Mutation screening of the CARD15 gene in sarcoidosis.
abstract: CARD15 was first identified as a susceptibility gene for Crohn's disease. More recently, CARD15 mutations were shown to be associated with the pediatric granulomatous inflammatory diseases, Blau syndrome and early-onset sarcoidosis (EOS). The aim of the present study was to evaluate whether CARD15 variants also play a role in patients with ordinary sarcoidosis other than EOS. We enrolled 135 Japanese sarcoidosis patients with uveitis as well as 95 healthy individuals and performed mutation analysis by direct sequencing of CARD15 exon 4. Direct DNA sequencing in the sarcoidosis patients showed eight CARD15 variants, including five novel mutations (13402C>T, 13543C>T, 13775C>A, 13937G>A, and 14079C>T). Compared with healthy individuals, CARD15 mutations are not common in the Japanese patients with sarcoidosis. Based on the results, we examined the clinical manifestations in patients with sarcoidosis according to their CARD15 mutations. Sarcoidosis patients with these mutations have no specific clinical features with regard to course of the disease or disease severity. Our results indicate that in general, CARD15 mutations may not contribute to the risk of sarcoidosis.
authors.affiliation: The Institute of Physical and Chemical Research , Yokohama, Japan. akahoshi@intmed1.med.kyushu-u.ac.jp
authors.forename: M
authors.initials: M
authors.lastname: Akahoshi
authors.forename: M
authors.initials: M
authors.lastname: Ishihara
authors.forename: K
authors.initials: K
authors.lastname: Namba
authors.forename: N
authors.initials: N
authors.lastname: Kitaichi
authors.forename: Y
authors.initials: Y
authors.lastname: Ando
authors.forename: S
authors.initials: S
authors.lastname: Takenaka
authors.forename: T
authors.initials: T
authors.lastname: Ishida
authors.forename: S
authors.initials: S
authors.lastname: Ohno
authors.forename: N
authors.initials: N
authors.lastname: Mizuki
authors.forename: H
authors.initials: H
authors.lastname: Nakashima
authors.forename: T
authors.initials: T
authors.lastname: Shirakawa
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D044466:Asian People; D002648:Child; D003424:Crohn Disease / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D017354:Point Mutation; D012307:Risk Factors; D012507:Sarcoidosis / Q000235:genetics*
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein