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Poly (ADP‐ribose) polymerase‐1 haplotypes are associated with coeliac disease
Author(s) -
Rueda B.,
Koeleman B. P. C.,
LópezNevot M. A.,
Ortega E.,
Maldonado J.,
López M.,
Polanco I.,
Martín J.
Publication year - 2005
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2005.00521.x
Subject(s) - haplotype , coeliac disease , allele , biology , poly adp ribose polymerase , polymerase chain reaction , promoter , immunology , microbiology and biotechnology , genetics , gene , polymerase , disease , medicine , gene expression
Summary In coeliac disease (CD) there is an inflammatory status of the intestinal mucosa because of a high expression of proinflammatory mediators. The nuclear protein poly (ADP‐ribose) polymerase‐1 (PARP‐1) has been implicated in the initial inflammatory response by modulating transcription of inflammation‐related genes. The aim of this work was to investigate the role of PARP‐1 gene promoter region haplotypes in relation to coeliac disease susceptibility. We analysed a coeliac population consisting of a case‐control panel with 120 CD patients and 311 healthy blood donors. A CA microsatellite, as haplotype‐defining variant of the whole PARP‐1 promoter, was typed using a polymerase chain reaction (PCR) method combined with fluorescence technology. We considered two promoter haplotypes: A defined by short CA alleles (83–87 bp) and B defined by long CA alleles (89–101 bp). Haplotype A was significantly increased within the coeliac patients group ( P = 0.007 OR 1.6 95%CI 1.12–2.35). Additionally, we observed a significant dose effect, showing homozygous individuals for haplotype A higher risk for CD susceptibility ( P = 0.007, OR 1.79 95%CI 1.14–2.82). Our results provide the first evidence that PARP‐1 haplotypes are related with coeliac disease susceptibility.