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WNT3A gene expression is associated with isolated Hirschsprung disease polymorphism and disease status.
[hirschsprung disease]
WNT
3
A
has
been
regarded
as
an
activator
of
the
canonical
Wnt
signaling
pathway
.
It
has
been
found
Wnt
signaling
pathway
is
closely
related
with
embrionic
development
and
Hirschsprung
disease
(
HSCR
)
.
A
common
haplotype
consisting
of
minor
SNPs
alleles
located
in
the
WNT
3
A
gene
has
been
described
as
a
risk
factor
for
various
genetic
disorders
.
However
,
whether
WNT
3
A
contributes
to
the
onset
of
HSCR
has
not
been
identified
.
The
present
study
aims
to
detect
the
interactions
of
genetic
variations
in
the
WNT
3
A
gene
and
examine
the
biological
expression
levels
with
Hirschsprung
disease
(
HSCR
)
in
the
Chinese
people
.
We
analyzed
WNT
3
A
gene
(
rs
61743220
,
rs
192966556
and
rs
145882986
)
variants
in
the
whole
blood
samples
from
HSCR
patients
and
normal
children
(
control
groups
)
.
WNT
3
A
expression
was
also
examined
by
quantitative
real-time
PCR
(
qRT-PCR
)
,
western
blotting
and
immunostaining
.
Consequently
,
when
rs
192966556
and
rs
145882986
alleles
of
the
WNT
3
A
gene
lack
the
SNPs
,
they
are
especially
associated
with
a
greater
risk
of
HSCR
(
OR
[
95
%
confidence
interval
]
=
1
.
791
,
p
=
0
.
001
;
OR
[
95
%
confidence
interval
]
=
1
.
556
,
p
=
0
.
003
,
respectively
)
.
The
mRNA
and
protein
expressions
of
WNT
3
A
were
higher
in
the
aganglionic
colon
segment
tissues
than
in
the
normal
ganglionic
segments
tissues
.
Immunostaining
indicates
that
the
staining
of
WNT
3
A
was
much
stronger
(
brown
)
in
the
aganglionic
colon
segment
tissues
than
that
in
the
normal
ganglionic
colon
segment
tissues
(
colorless
or
light
yellow
)
in
the
mucous
layer
and
muscular
layer
.
Although
preliminary
,
these
results
suggest
that
WNT
3
A
may
play
an
important
role
in
the
pathogenesis
of
HSCR
.
