Within WP6 of a EU Seventh Framework project, we will investigate associations between purinergic receptor SNPs and osteoporosis risk in humans. Genetic data from a fracture cohort in The Netherlands with high prevalence of osteoporosis will be…
ID
Source
Brief title
Condition
- Fractures
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
- BMD;
- purinergic receptor SNPs;
- bone markers.
Secondary outcome
N.a.
Background summary
Osteoporosis is a high-prevalence disease with a strong genetic component.
Nucleotides, including ATP (adenosine 5'-triphosphate) and its purinergic
receptors, play a role in bone physiology. Single nucleotide polymorphisms
(SNPs) in the P2X7 receptor gene were recently found to be associated with
fracture risk in a cohort of postmenopausal women.
Study objective
Within WP6 of a EU Seventh Framework project, we will investigate associations
between purinergic receptor SNPs and osteoporosis risk in humans. Genetic data
from a fracture cohort in The Netherlands with high prevalence of osteoporosis
will be analyzed. Furthermore, effects of aberrant purinergic receptor
signalling on inflammatory and bone turnover markers will be assessed ex vivo.
Study design
The cohort will include app. 1,000 fracture patients * 50 yrs, who will be
recruited in the University Hospital Maastricht during standard medical
follow-up after a clinical fracture. The standard medical follow-up includes
assessment of bone mineral density (BMD) by Dual-Energy X-ray Absorptiometry
(DXA), if necessary followed by medication for osteoporosis. Prior to
medication, blood samples will be collected from fracture patients to be
genotyped for purinergic receptor SNPs and analyzed for biochemical markers of
bone turnover. Systemic correlates of osteoporosis will be compared between
osteoporotic subjects (i.e. low BMD) and non-osteoporotic controls (i.e. normal
to high BMD). Subsequently, whole blood assays in patient subgroups (n=10 per
subgroup), based on the absence or presence of the P2X7 Glu496Ala SNP, will be
performed to evaluate ex vivo effects of aberrant purinergic receptor function
on inflammatory and bone markers.
Within the EU collaborative effort, the data will be compared and, if
comparable, pooled with data from two Danish cohorts with a high prevalence of
osteoporosis.
Study burden and risks
In the present study, patients will be asked to donate blood a single time
during a standard visit to the University Hospital Maastricht. After
approximately 12 to 18 months, a sample of 20 patients, based on the absence or
presence of the P2X7 Glu496Ala SNP, will be asked to donate blood a second
time. The present study is without risks and does not influence current
treatment of patients.
Postbus 616
6200 MD Maastricht
NL
Postbus 616
6200 MD Maastricht
NL
Listed location countries
Age
Inclusion criteria
- age * 50 years;
- attending the osteoporosis outpatient clinic for standard medical care.
Exclusion criteria
- disease of bone metabolism (e.g. Paget disease, bone tumours, hyperparathyroidism);
- blood sampling is impossible;
- unwillingness to donate blood for DNA-analysis.
Design
Recruitment
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 |
|---|---|
| ClinicalTrials.gov | NCT00697983 |
| CCMO | NL22585.068.08 |