Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease.
[krabbe disease]
DNA
copy
number
variants
(
CNVs
)
have
been
reported
in
many
human
diseases
including
autism
and
schizophrenia
.
Primary
Open
Angle
Glaucoma
(
POAG
)
is
a
complex
adult-onset
disorder
characterized
by
progressive
optic
neuropathy
and
vision
loss
.
Previous
studies
have
identified
rare
CNVs
in
POAG
;
however
,
their
low
frequencies
prevented
formal
association
testing
.
We
present
here
the
association
between
POAG
risk
and
a
heterozygous
deletion
in
the
galactosylceramidase
gene
(
GALC
)
.
This
CNV
was
initially
identified
in
a
dataset
containing
71
Caucasian
POAG
cases
and
478
ethnically
matched
controls
obtained
from
dbGAP
(
study
accession
phs
000126
.
v
1
.
p
1
.
)
(
p
=
0
.
017
,
fisher
's
exact
test
)
.
It
was
validated
with
array
comparative
genomic
hybridization
(
arrayCGH
)
and
realtime
PCR
,
and
replicated
in
an
independent
POAG
dataset
containing
959
cases
and
1852
controls
(
p
=
0
.
021
,
OR
(
odds
ratio
)
=
3
.
5
,
95
%
CI
-
1
.
1
-
12
.
0
)
.
Evidence
for
association
was
strengthened
when
the
discovery
and
replication
datasets
were
combined
(
p
=
0
.
002
;
OR
=
5
.
0
,
95
%
CI
1
.
6
-
16
.
4
)
.
Several
deletions
with
different
endpoints
were
identified
by
array
CGH
of
POAG
patients
.
Homozygous
deletions
that
eliminate
GALC
enzymatic
activity
cause
Krabbe
disease
,
a
recessive
Mendelian
disorder
of
childhood
displaying
bilateral
optic
neuropathy
and
vision
loss
.
Our
findings
suggest
that
heterozygous
deletions
that
reduce
GALC
activity
are
a
novel
mechanism
increasing
risk
of
POAG
.
This
is
the
first
report
of
a
statistically-significant
association
of
a
CNV
with
POAG
risk
,
contributing
to
a
growing
body
of
evidence
that
CNVs
play
an
important
role
in
complex
,
inherited
disorders
.
Our
findings
suggest
an
attractive
biomarker
and
potential
therapeutic
target
for
patients
with
this
form
of
POAG
.
Diseases
Validation
Diseases presenting
"schizophrenia"
symptom
22q11.2 deletion syndrome
achondroplasia
alexander disease
cadasil
child syndrome
congenital toxoplasmosis
kabuki syndrome
kallmann syndrome
krabbe disease
neuralgic amyotrophy
oligodontia
oral submucous fibrosis
zellweger syndrome
This symptom has already been validated