Mutation screening of the CARD15 gene in sarcoidosis

M. Akahoshi, M. Ishihara, K. Namba, N. Kitaichi, Y. Ando, S. Takenaka, T. Ishida, S. Ohno, N. Mizuki, H. Nakashima, T. Shirakawa

研究成果: Contribution to journalArticle査読

20 被引用数 (Scopus)

抄録

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.

本文言語英語
ページ(範囲)564-567
ページ数4
ジャーナルTissue antigens
71
6
DOI
出版ステータス出版済み - 6 2008

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology
  • Biochemistry
  • Genetics

フィンガープリント 「Mutation screening of the CARD15 gene in sarcoidosis」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル