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Genome-wide SNP analysis of the Systemic Capillary Leak Syndrome (Clarkson disease).
[systemic capillary leak syndrome]
The
Systemic
Capillary
Leak
Syndrome
(
SCLS
)
is
an
extremely
rare
,
orphan
disease
that
resembles
,
and
is
frequently
erroneously
diagnosed
as
,
systemic
anaphylaxis
.
The
disorder
is
characterized
by
repeated
,
transient
,
and
seemingly
unprovoked
episodes
of
hypotensive
shock
and
peripheral
edema
due
to
transient
endothelial
hyperpermeability
.
SCLS
is
often
accompanied
by
a
monoclonal
gammopathy
of
unknown
significance
(
MGUS
)
.
Using
Affymetrix
Single
Nucleotide
Polymorphism
(
SNP
)
microarrays
,
we
performed
the
first
genome-
wide
SNP
analysis
of
SCLS
in
a
cohort
of
12
disease
subjects
and
18
controls
.
Exome
capture
sequencing
was
performed
on
genomic
DNA
from
nine
of
these
patients
as
validation
for
the
SNP-
chip
discoveries
and
de
novo
data
generation
.
We
identified
candidate
susceptibility
loci
for
SCLS
,
which
included
a
region
flanking
CAV
3
(
3
p
25
.
3
)
as
well
as
SNP
clusters
in
PON
1
(
7
q
21
.
3
)
,
PSORS
1
C
1
(
6
p
21
.
3
)
,
and
CHCHD
3
(
7
q
33
)
.
Among
the
most
highly
ranked
discoveries
were
gene
-associated
SNPs
in
the
uncharacterized
LOC
100130480
gene
(
rs
6417039
,
rs
2004296
)
.
Top
case-associated
SNPs
were
observed
in
BTRC
(
rs
12355803
,
3
rs
4436485
)
,
ARHGEF
18
(
rs
11668246
)
,
CDH
13
(
rs
4782779
)
,
and
EDG
2
(
rs
12552348
)
,
which
encode
proteins
with
known
or
suspected
roles
in
B
cell
function
and
/
or
vascular
integrity
.
61
SNPs
that
were
significantly
associated
with
SCLS
by
microarray
analysis
were
also
detected
and
validated
by
exome
deep
sequencing
.
Functional
annotation
of
highly
ranked
SNPs
revealed
enrichment
of
cell
projections
,
cell
junctions
and
adhesion
,
and
molecules
containing
pleckstrin
homology
,
Ras
/
Rho
regulatory
,
and
immunoglobulin
Ig-like
C
2
/
fibronectin
type
III
domains
,
all
of
which
involve
mechanistic
functions
that
correlate
with
the
SCLS
phenotype
.
These
results
highlight
SNPs
with
potential
relevance
to
SCLS
.
Diseases
Validation
Diseases presenting
"peripheral edema due to transient endothelial hyperpermeability"
symptom
systemic capillary leak syndrome
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