The objective of this study is to assess the association of genetic polymorphisms known to be involved in coeliac disease with specific clinical phenotypes in coeliac disease.
ID
Source
Brief title
Condition
- Malabsorption conditions
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
An association will be investigated between clinical information (age at onset,
clinical data, associated diseases) and variants of candidate genes of coeliac
disease.
Secondary outcome
nvt
Background summary
Coeliac disease is a common enteropathy with a strong genetic risk following
the dietary ingestion of gluten. It is characterized by a permanent intolerance
for gluten proteins present in dietary wheat, rye and barley. This
immune-mediated disorder affects primarily the gastro-intestinal tract. Chronic
inflammation of the small intestinal mucosa may result in atrophy of intestinal
villi and malabsorption. Patients present with symptoms of weight loss,
abdominal pain, growth retardation, anemia or osteoporosis. Furthermore, other
auto-immune disorders are seen more frequently in coeliac patients than in the
general population. So far, the only treatment for coeliac disease consists of
a lifelong gluten free diet. The pathologic changes and symptoms resolve when
gluten are excluded form the diet.
Genetics play a key role in coeliac disease. Considerable progress has been
made in identifying genes responsible for coeliac disease. Several studies
obtained evidence for linkage to regions on different chromosomes eg 5, 6 and
19. Our group obtained strong evidence for linkage to a genetic variant on
chromosome 19 (myosin IXB) which might secondarily lead to an impaired
intestinal barrier and might play a role in the pathogenesis of coeliac
disease. In this study variants of candidate genes in coeliac disease will be
investigated and correlated with clinical phenotype of coeliac disease.
Study objective
The objective of this study is to assess the association of genetic
polymorphisms known to be involved in coeliac disease with specific clinical
phenotypes in coeliac disease.
Study design
All newly diagnosed cases of childhood coeliac disease in three academic
centers were registered since 1993 and clinical data were collected.
Bloodsamples from these patients will be used for genotyping. Genetic variants
of coeliac disease candidate genes will be investigated and a correlation on
the clinical phenotype will be analyzed.
Study burden and risks
Venous blood investigation is one of the the usual diagnostic procedures during
periodical check up for coeliac disease. We will ask for some extra blood (10
ml)during this diagnostic venipuncture. Furthermore, a follow up questionnaire
will be sent by the pediatrician by mail. No increased risk has to be expected.
Lundlaan 6
3584 EA Utrecht
Nederland
Lundlaan 6
3584 EA Utrecht
Nederland
Listed location countries
Age
Inclusion criteria
(1) Included:
-Born in The Netherlands
-Diagnosis of coeliac disease based on at least 1 biopsy of the small intestine, showing the characteristic appearance of coeliac disease (villous atrophy, crypt hyperplasia, inflammatory infiltration).
-Age at diagnosis (diagnostic biopsy of the small intestine) between 0 to 14 years.
-Clinical data already collected.
(2) Informed consent obtained for present study.
Exclusion criteria
No informed consent obtained for present study.
Design
Recruitment
Medical products/devices used
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL11212.041.06 |