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Immunogenetics

, Volume 58, Issue 2–3, pp 99–106 | Cite as

Eight novel CARD15 variants detected by DNA sequence analysis of the CARD15 gene in 111 patients with inflammatory bowel disease

  • Fabian Schnitzler
  • Stephan Brand
  • Tanja Staudinger
  • Simone Pfennig
  • Katrin Hofbauer
  • Julia Seiderer
  • Cornelia Tillack
  • Burkhard Göke
  • Thomas Ochsenkühn
  • Peter LohseEmail author
Original Paper

Abstract

We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn’s disease (CD), 19 patients with ulcerative colitis (UC), and three patients with indeterminate colitis (IC), who were heterozygous carriers of one of the common CARD15 mutations [c.2104C>T (p.R702W), c.2722G>C (p.G908R), or c.3019_3020insC (p.Leu1007fsX1008)], the c.2462+10A>C variant, or of a new amino acid substitution in the 3′-end of exon 4. CARD15 exons 4, 5, 6, 8, and 11 were amplified by PCR and completely sequenced, thereby theoretically covering 73.9% of the described CARD15 variants and 96.6% of the mutated alleles. Using this approach, eight novel amino acid substitutions [c.1171C>T (p.R391C), c.1387C>G (p.P463A), c.2138G>A (p.R713H), c.2278C>T (p.R760C), c.2368C>T (p.R790W), c.2371C>T (p.R791W), c.2475C>G (p.N825K), and c.2546C>T (p.A849V)] were detected in six CD and two IC patients, and one UC patient. A severe disease phenotype was observed especially in patients who are compound-heterozygous for a common and a novel CARD15 mutation.

Keywords

CARD15 Crohn’s disease Mutation Genotype Phenotype 

Notes

Acknowledgements

This work contains parts of the unpublished doctoral thesis of F. Schnitzler. We would like to thank Pia Lohse, Heike Rüebsamen, and Gabriele Simon for their help in performing the DNA sequence analyses. We are also grateful to the patients for their participation in the study.

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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Fabian Schnitzler
    • 1
    • 2
  • Stephan Brand
    • 2
  • Tanja Staudinger
    • 2
  • Simone Pfennig
    • 2
  • Katrin Hofbauer
    • 2
  • Julia Seiderer
    • 2
  • Cornelia Tillack
    • 2
  • Burkhard Göke
    • 2
  • Thomas Ochsenkühn
    • 2
  • Peter Lohse
    • 1
    Email author
  1. 1.Department of Clinical Chemistry-GrosshadernLudwig-Maximilians-University MunichMunichGermany
  2. 2.Department of Internal Medicine II-GrosshadernUniversity of MunichMunichGermany

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