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Pathways systematically associated to Hirschsprung's disease.
[hirschsprung disease]
Despite
it
has
been
reported
that
several
loci
are
involved
in
Hirschsprung
's
disease
,
the
molecular
basis
of
the
disease
remains
yet
essentially
unknown
.
The
study
of
collective
properties
of
modules
of
functionally-related
genes
provides
an
efficient
and
sensitive
statistical
framework
that
can
overcome
sample
size
limitations
in
the
study
of
rare
diseases
.
Here
,
we
present
the
extension
of
a
previous
study
of
a
Spanish
series
of
HSCR
trios
to
an
international
cohort
of
162
HSCR
trios
to
validate
the
generality
of
the
underlying
functional
basis
of
the
Hirschsprung
's
disease
mechanisms
previously
found
.
The
Pathway-
Based
Analysis
(
PBA
)
confirms
a
strong
association
of
gene
ontology
(
GO
)
modules
related
to
signal
transduction
and
its
regulation
,
enteric
nervous
system
(
ENS
)
formation
and
other
processes
related
to
the
disease
.
In
addition
,
network
analysis
recovers
sub-networks
significantly
associated
to
the
disease
,
which
contain
genes
related
to
the
same
functionalities
,
thus
providing
an
independent
validation
of
these
findings
.
The
functional
profiles
of
association
obtained
for
patients
populations
from
different
countries
were
compared
to
each
other
.
While
gene
associations
were
different
at
each
series
,
the
main
functional
associations
were
identical
in
all
the
five
populations
.
These
observations
would
also
explain
the
reported
low
reproducibility
of
associations
of
individual
disease
genes
across
populations
.
Diseases
Validation
Diseases presenting
"main functional associations"
symptom
hirschsprung disease
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