Alpha-defensin DEFA1A3 gene copy number elevation in Danish Crohn's disease patients

Cathrine Jespersgaard, Peder Fode, Marianne Dybdahl, Ida Vind, Ole Haagen Nielsen, Claudio Csillag, Pia Munkholm, Ben Vainer, Lene Riis, Margarita Elkjaer, Natalia Pedersen, Elisabeth Knudsen, Paal Skytt Andersen*

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review


Background and Purpose of Study Extensive copy number variation is observed for the DEFA1A3 gene encoding alpha-defensins 1-3. The objective of this study was to determine the involvement of alpha-defensins in colonic tissue from Crohn's disease (CD) patients and the possible genetic association of DEFA1A3 with CD. Methods Two-hundred and forty ethnic Danish CD patients were included in the study. Reverse transcriptase PCR assays determined DEFA1A3 expression in colonic tissue from a subset of patients. Immunohistochemical analysis identified alpha-defensin peptides in colonic tissue. Copy number of DEFA1A3 and individual alleles, DEFA1 and DEFA3, were compared with those for controls, by use of combined real-time quantitative PCR and pyrosequencing, and correlated with disease location. Results Inflammatory-dependent mRNA expression of DEFA1A3 (P<0.001), and the presence of alpha-defensin peptides, were observed in colonic tissue samples. Higher DEFA1A3 gene copy number (CD: mean copy number, 7.2 vs. controls 6.7; P<0.001) and individual DEFA1 alleles (CD mean copy number 5.6 vs. controls 5.1; P<0.01) were associated with CD, with strong association with colonic location (P<0.001). Conclusions Alpha-defensins are involved in the inflammation of CD, with local mRNA and peptide expression. In combination with the findings that a high DEFA1A3 copy number is significantly linked to CD, these results suggest that a high DEFA1A3 copy number might be important in hindering the normal inflammatory response in CD, particularly colonic CD.

Original languageEnglish
JournalDigestive Diseases and Sciences
Issue number12
Pages (from-to)3517-3524
Number of pages8
Publication statusPublished - Dec 2011
Externally publishedYes


  • Colonic tissue
  • Copy number variation
  • Crohn's disease
  • Defensin
  • Genetic association
  • Real-time PCR


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