Public
release date: 29-Jan-2012
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Contact: Dr. Samuli Ripatti
samuli.ripatti@fimm.fi
358-206-108-159
University of Helsinki
In a study to the genetic variance of human metabolism,
researchers have identified thirty one regions of the genome
that were associated with levels of circulating metabolites,
i.e., small molecules that take part in various chemical
reactions of human body. Many of the studied metabolites are
biomarkers for cardiovascular disease or related disorders,
thus the loci uncovered may provide valuable insight into the
biological processes leading to common diseases.
Laboratory tests used in the clinic typically monitor one or
few circulating metabolites. The researchers at the Institute
for Molecular Medicine Finland (FIMM) used a high throughput
method called nuclear magnetic resonance (NMR) that can measure
more than hundred different metabolites in one assay. This
provides a much more in-depth picture of circulating metabolic
compounds.
"Using this extensive analysis in thousands of people, we could
identify a large number of genetic loci regulating the level of
compounds circulating in the blood stream", says Dr. Samuli
Ripatti, the leader of the study.
The team assayed 117 detailed metabolic markers, including
lipoprotein subclasses, amino acids and lipids, and conducted
the largest genome-wide association analysis of this type, in
terms of study sample size of 8330 individuals from six Finnish
population-based cohorts and 7.7 million genomic markers
studied. They revealed, in total, 31 genetic regions associated
with the blood levels of the metabolites.
Eleven of the loci had not been previously shown to be
associated with any metabolic measures.
Among the findings were two new loci affecting serum
cholesterol subclass measures, well-established risk markers
for cardiovascular disease, and five new loci affecting levels
of amino acids recently discovered to be potential biomarkers
for type 2 diabetes. The discovered variants have significant
effects on the metabolite levels, the effect sizes being in
general considerably larger than the known common variants for
complex disease have.
Also, using Finnish twin pair samples, the researchers
indicated that the metabolite levels show a high degree of
heritability. "This result suggests that the studied
metabolites are describing better the underlying biology than
the routinely used laboratory tests. Therefore, the study
provides further support for the use of detailed data on
multitude of metabolites in genetic studies to provide novel
biological insights and to help in elucidating the processes
leading to common diseases", Dr. Ripatti says.
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Dr. Samuli Ripatti is a FIMM-EMBL Group Leader at the Institute
for Molecular Medicine Finland (FIMM), University of Helsinki,
Finland (http://www.fimm.fi)
and a Honorary Faculty Member at the Wellcome Trust Sanger
Institute, UK (http://www.sanger.ac.uk)
The Institute for Molecular Medicine Finland FIMM is an
international research institute focusing on building a bridge
from discovery to medical applications. FIMM investigates
molecular mechanisms of disease using genomics and medical
systems biology in order to promote human health. FIMM is a
multi-disciplinary institute combining high-quality science
with unique research cohorts and patient materials, and
state-of-the-art technologies. Website http://www.fimm.fi
The Wellcome Trust Sanger Institute is one of the world's
leading genome centres. Through its ability to conduct research
at scale, it is able to engage in bold and long-term
exploratory projects that are designed to influence and empower
medical science globally. Institute research findings,
generated through its own research programmes and through its
leading role in international consortia, are being used to
develop new diagnostics and treatments for human disease.
Website http://www.sanger.ac.uk/
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Genetic regulation of metabolomic biomarkers - paths to cardiovascular diseases and type 2 diabetes
Recommendation and review posted by G. Smith
