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RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.
[hirschsprung disease]
Hirschsprung
disease
(
HSCR
)
is
a
congenital
aganglionosis
of
myenteric
and
submucosal
plexuses
in
variable
length
of
the
intestine
.
This
study
investigated
the
influence
and
a
possible
modifying
function
of
RET
proto-oncogene
's
single
nucleotide
polymorphisms
(
SNPs
)
and
haplotypes
in
the
development
and
phenotype
of
the
disease
in
Czech
patients
.
Genotyping
of
14
SNPs
was
performed
using
TaqMan
Genotyping
Assays
and
direct
sequencing
.
The
frequencies
of
SNPs
and
generated
haplotypes
were
statistically
evaluated
using
chi
-square
test
and
the
association
with
the
risk
of
HSCR
was
estimated
by
odds
ratio
.
SNP
analysis
revealed
significant
differences
in
frequencies
of
11
polymorphic
RET
variants
between
162
HSCR
patients
and
205
unaffected
controls
.
Particularly
variant
alleles
of
rs
1864410
,
rs
2435357
,
rs
2506004
(
intron
1
)
,
rs
1800858
(
exon
2
)
,
rs
1800861
(
exon
13
)
,
and
rs
2565200
(
intron
19
)
were
strongly
associated
with
increased
risk
of
HSCR
(
p
<
0
.
00000
)
and
were
over-represented
in
males
vs
.
females
.
Conversely
,
variant
alleles
of
rs
1800860
,
rs
1799939
and
rs
1800863
(
exons
7
,
11
,
15
)
had
a
protective
role
.
The
haploblock
comprising
variants
in
intron
1
and
exon
2
was
constructed
.
It
represented
a
high
risk
of
HSCR
,
however
,
the
influence
of
other
variants
was
also
found
after
pruning
from
effect
of
this
haploblock
.
Clustering
patients
according
to
genotype
status
in
haploblock
revealed
a
strong
co
-segregation
with
several
SNPs
and
pointed
out
the
differences
between
long
and
short
form
of
HSCR
.
This
study
involved
a
large
number
of
SNPs
along
the
entire
RET
proto-oncogene
with
demonstration
of
their
risk
/
protective
role
also
in
haplotype
and
diplotype
analysis
in
the
Czech
population
.
The
influence
of
some
variant
alleles
on
the
aggressiveness
of
the
disease
and
their
role
in
gender
manifestation
differences
was
found
.
These
data
contribute
to
worldwide
knowledge
of
the
genetics
of
HSCR
.
Diseases
Validation
Diseases presenting
"hirschsprung disease"
symptom
hirschsprung disease
hydrocephalus with stenosis of the aqueduct of sylvius
megacystis-microcolon-intestinal hypoperistalsis syndrome
This symptom has already been validated
