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CURRENT
CDRF PROJECTS | SUBMISSIONS OF RESEARCH PROJECTS
"The
Inter-relationship between Genetic and Environmental Influences in Osteoporosis,
Osteoarthritis and Back Pain: an Analysis of Twin Data"
MacGregor
"Establishment
and Screening of an affected Female Sib Pair Cohort for the Genetic Susceptibility
Loci to Osteoporosis. "
Keen
et al
"Identification
of novel genetic loci mapping to chromosome 12q12-14 and implicated in the development
of osteoporosis and arthritis.
Spector,
Lanchbury, Keen
"Collection
of biological materials from families with knee osteoarthritis."
Doherty,
Spector
"A
Genetic Association Study of Candidate Genes for Osteoarthritis, Obesity and
Insulin Resistance and their Inter-Relationship using a population Based Cohort."
Spector,
Keen, Doyle, Hart
SUMMARY:
Osteoarthritis,
obesity, osteoporosis and insulin resistance are all highly genetic
complex traits. To identify the genes involved, a number of approaches
are likely to be needed and different populations collected to test
and re-test potential genetic markers before they can be linked
with disease traits with certainty. As an extension to the successful
Chingford population study of 1003 women aged 45-64, funds are sought
to provide the framework for a population based association study
to test potential candidate genes for three related disease types.
. The depth of phenotype information on the Chingford population
is unique and should allow specific and accurate disease state classification
from a generalisable population based sample. Positive results can
then be confirmed in larger studies such as the St Thomas’
twin study The aim of the study will be to identify three case groups
of 100 subjects each and a normal comparison control group to test
for potential gene markers for metabolic syndromes. The disease
groups will be a) osteoarthritis defined by x-ray, b) obesity defined
by body fat mass c) insulin resistance defined by abdominal fat
mass and controls will be individuals without any of these traits.
The candidate genes tested will be IGF-1, IGF-2, Insulin gene, Estrogen
receptor gene, TGFb, and collagen type II. Detailed information
on osteoarthritis and osteoporosis is already available on this
population and additional phenotypic data on body fat composition,
central fat and insulin resistance will be collected on all subjects.
The main genetic analysis will be on 100 cases and 100 controls.
It is likely that some of the markers for one disease may be related
in some way to markers for another. In this way we can explore the
candidacy of a number of gene markers in well characterized population
based individuals, looking at a number of different but potentially
related diseases of major public health importance
AIMS:
1.
To find new associations of genetic markers for OA, obesity and
insulin resistance.
2. To try and identify common predisposing genes to all three conditions.
3. To explore any relationship with bone mineral density.
4. To provide a unique future resource to test other potential candidates.
No
commercially available tests are in use at present.
SUBMISSIONS
OF RESEARCH PROJECTS
Stage
1: Submission of a preliminary proposal.
Preliminary
proposals should be no more than one side of A4 including an outline of the
research proposal, a list of principal aims and objectives and scale of funding.
Stage
2: Submission of full grant proposal.
These
will only be considered if our panel of experts considers the project to be
of relevance to the CDRF.
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