Alpha-Defensin DEFA1A3 Gene Copy Number Elevation in Danish Crohn’s Disease Patients
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...
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Veröffentlicht in: | Digestive diseases and sciences 2011-12, Vol.56 (12), p.3517-3524 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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
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ISSN: | 0163-2116 1573-2568 |
DOI: | 10.1007/s10620-011-1794-8 |