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Network Analyis Approach to Find New Candidate Genes and Pathways Involved in the Pathophysiology of Familial Hypercholesterolemia
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|---|---|---|---|---|
| 1.48 MB | Adobe PDF |
Authors
Advisor(s)
Abstract(s)
Introduction: Familial
hypercholesterolaemia
(FH)
is
a
common
genetic
cause
of
premature
coronary
heart
disease
(CHD)
due
to
lifelong
elevated
plasma
low-density
lipoprotein
(LDL)
levels.
Worldwide
only
40
%
of
patients
(FH+)
with
a
clinical
diagnosis
of
FH
carry
a
mutation
in
any
of
the
three
genes
(namely: LDLR,
APOB,
PCSK
9)
that
are
currently
known
to
be
associated
to
the
disease.
We
guess
that
the
remaining
60
%
of
the
patients
(FH-)
probably
includes
a
high
percentage
of
individuals
with
a
polygenic
form
of
dyslipidemia
or
an
environmental
form
of
hypercholesterolemia
and
a
small
percentage
of
individuals
with
mutations
in
some
novel
genes,
never
associated
before
with
dyslipidemias.
Here
we
present
the
preliminary
results
of
an
integrative
approach
intended
to
identify
new
candidate
genes
and
to
dissect
pathways
that
can
be
dysregulated
in
the
disease.
Description
Keywords
Doenças Cardio e Cérebro-vasculares Familial Hypercholesterolemia
Pedagogical Context
Citation
Publisher
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP