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Polymorphisms of the WRN gene and DNA damage of peripheral lymphocytes in age-related cataract in a Han Chinese population.
[werner syndrome]
Werner
syndrome
is
caused
by
mutations
in
the
DNA
repair
Werner
helicase
(
WRN
)
gene
and
characterized
by
accelerated
aging
including
cataracts
.
Age-related
cataract
(
ARC
)
cases
(
N
=
504
)
and
controls
(
N
=
244
)
were
recruited
from
a
population-based
study
to
evaluate
the
association
of
single
-nucleotide
polymorphisms
(
SNPs
)
of
WRN
and
another
DNA
repair
gene
(
human
8
-
oxoguanine
DNA
N-
glycosylase
1
)
with
ARC
.
Among
the
five
SNPs
tested
,
only
WRN
rs
1346044
was
found
to
be
significantly
associated
between
cases
and
controls
before
multiple
-testing
adjustment
.
The
minor
C
allele
of
rs
1346044
was
associated
with
ARC
with
an
odds
ratio
(
OR
)
of
0
.
66
,
suggesting
a
protective
role
of
the
C
allele
for
developing
ARC
.
The
stratification
analysis
on
the
subtypes
of
ARC
showed
that
rs
1346044
was
significantly
associated
with
cortical
cataract
,
but
not
with
nuclear
,
posterior
subcapsular
,
and
mixed
types
after
multiple
-testing
adjustment
(
OR
=
0
.
51
,
p
<
0
.
01
)
.
The
genetic
model
analysis
showed
that
the
results
fit
the
dominant
model
(
OR
=
0
.
44
,
p
<
0
.
001
)
.
The
comet
assay
used
to
assess
the
extent
of
DNA
damage
in
peripheral
lymphocytes
of
ARC
cases
found
that
the
DNA
damage
in
lymphocytes
from
patients
with
CC
genotype
was
significantly
less
than
that
in
patients
with
TT
genotype
.
We
concluded
that
the
C
allele
of
rs
1346044
,
a
non-synonymous
SNP
resulting
in
the
conversion
of
Cys
to
Arg
at
amino
acid
position
1367
of
WRN
,
alters
susceptibility
to
ARC
,
especially
the
cortical
type
of
the
disease
,
in
the
Han
Chinese
.
The
underlying
mechanism
of
its
protective
role
might
be
related
to
the
improved
DNA
repair
function
.
Diseases
Validation
Diseases presenting
"cortical cataract"
symptom
werner syndrome
This symptom has already been validated