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

Research output: Contribution to journalArticle

19 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)564-567
Number of pages4
JournalTissue antigens
Volume71
Issue number6
DOIs
Publication statusPublished - Jun 1 2008

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Sarcoidosis
Screening
Genes
Mutation
Pediatrics
Exons
Uveitis
DNA Sequence Analysis
DNA
Crohn Disease
Blau syndrome

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology
  • Biochemistry
  • Genetics

Cite this

Akahoshi, M., Ishihara, M., Namba, K., Kitaichi, N., Ando, Y., Takenaka, S., ... Shirakawa, T. (2008). Mutation screening of the CARD15 gene in sarcoidosis. Tissue antigens, 71(6), 564-567. https://doi.org/10.1111/j.1399-0039.2008.01043.x

Mutation screening of the CARD15 gene in sarcoidosis. / Akahoshi, M.; Ishihara, M.; Namba, K.; Kitaichi, N.; Ando, Y.; Takenaka, S.; Ishida, T.; Ohno, S.; Mizuki, N.; Nakashima, H.; Shirakawa, T.

In: Tissue antigens, Vol. 71, No. 6, 01.06.2008, p. 564-567.

Research output: Contribution to journalArticle

Akahoshi, M, Ishihara, M, Namba, K, Kitaichi, N, Ando, Y, Takenaka, S, Ishida, T, Ohno, S, Mizuki, N, Nakashima, H & Shirakawa, T 2008, 'Mutation screening of the CARD15 gene in sarcoidosis', Tissue antigens, vol. 71, no. 6, pp. 564-567. https://doi.org/10.1111/j.1399-0039.2008.01043.x
Akahoshi M, Ishihara M, Namba K, Kitaichi N, Ando Y, Takenaka S et al. Mutation screening of the CARD15 gene in sarcoidosis. Tissue antigens. 2008 Jun 1;71(6):564-567. https://doi.org/10.1111/j.1399-0039.2008.01043.x
Akahoshi, M. ; Ishihara, M. ; Namba, K. ; Kitaichi, N. ; Ando, Y. ; Takenaka, S. ; Ishida, T. ; Ohno, S. ; Mizuki, N. ; Nakashima, H. ; Shirakawa, T. / Mutation screening of the CARD15 gene in sarcoidosis. In: Tissue antigens. 2008 ; Vol. 71, No. 6. pp. 564-567.
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