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A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.
[oculocutaneous albinism]
Previous
studies
have
shown
that
genetic
variants
in
the
complement
component
2
(
C
2
)
/
complement
factor
B
(
BF
)
gene
are
associated
with
AMD
in
Caucasians
,
but
not
in
Han
Chinese
.
Recent
studies
have
indicated
that
genetic
variants
in
the
neighboring
superkiller
viralicidic
activity
2
-
like
(
SKIV
2
L
)
gene
showed
significant
association
with
AMD
.
We
conducted
this
study
to
investigate
whether
genetic
variants
in
the
SKIV
2
L
gene
are
associated
with
AMD
in
a
Han
Chinese
population
.
T
hirteen
single
nucleotide
polymorphisms
(
SNPs
)
in
the
C
2
-
BF-RDBP-
SKIV
2
L
-
STK
19
region
were
genotyped
by
the
SNaPshot
method
in
a
cohort
composed
of
449
patients
with
choriodal
neovascularization
(
CNV
)
AMD
and
1025
healthy
controls
of
Han
Chinese
descent
.
Among
the
SNPs
genotyped
,
P
values
of
seven
SNPs
were
less
than
0
.
05
;
however
,
only
rs
429608
was
found
to
be
significantly
associated
with
AMD
after
correction
for
multiple
testing
.
The
minor
allele
(
A
)
frequency
of
rs
429608
was
0
.
050
in
cases
and
0
.
089
in
controls
,
and
the
P
value
was
3
.
76
×
10
(
-
4
)
(
0
.
00489
after
Bonferroni
correction
)
,
with
an
odds
ratio
of
0
.
55
(
95
%
confidence
interval
,
0
.
40
-
0
.
77
)
.
The
SKIV
2
L
gene
was
expressed
in
the
human
RPE
,
retina
,
and
D
407
(
human
RPE
)
cells
,
and
in
mouse
retinas
and
RPE
.
We
demonstrated
that
the
rs
429608
genetic
variant
in
the
SKIV
2
L
gene
was
significantly
associated
with
AMD
in
a
Han
Chinese
population
.
SKIV
2
L
may
play
an
important
role
in
the
development
of
AMD
.
Diseases
Validation
Diseases presenting
"single nucleotide polymorphisms"
symptom
adrenomyeloneuropathy
alpha-thalassemia
benign recurrent intrahepatic cholestasis
congenital adrenal hyperplasia
dentin dysplasia
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
hirschsprung disease
neonatal adrenoleukodystrophy
oculocutaneous albinism
oligodontia
pendred syndrome
primary effusion lymphoma
scrub typhus
triple a syndrome
waldenström macroglobulinemia
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