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Functional polymorphisms of caveolin-1 variants as potential biomarkers of esophageal squamous cell carcinoma.
[esophageal squamous cell carcinoma]
Abstract
Objective
:
To
investigate
the
association
of
caveolin-
1
(
CAV
1
)
genetic
variants
(
C
2
39
A
(
rs
1997623
)
,
G
14713
A
(
rs
3807987
)
,
G
21985
A
(
rs
1267
2038
)
,
T
29107
A
(
rs
7804372
)
)
with
esophageal
squamous
cell
carcinoma
(
ESCC
)
susceptibility
.
Methods
:
A
total
of
427
patients
with
ESCC
and
427
healthy
controls
were
genotyped
using
the
polymerase
chain
reaction
and
restriction
fragment
length
polymorphism
(
PCR-RFLP
)
method
.
Results
:
There
were
significant
differences
between
patients
and
controls
in
distributions
of
their
genotypes
and
allelic
frequencies
in
G
14713
A
and
T
29107
A
polymorphisms
.
Furthermore
,
haplotype
analysis
revealed
that
haplotypes
CAAT
and
CAGT
were
associated
with
high
risk
for
ESCC
,
while
haplotype
CGGA
was
protective
against
ESCC
.
Stratified
analysis
showed
the
associations
between
the
SNPs
(
G
14713
A
and
T
29107
A
)
and
ESCC
risk
were
noteworthy
among
female
patients
and
patients
who
never
smoke
or
drank
alcohol
.
Conclusions
:
Genetic
polymorphisms
of
CAV
1
G
14713
A
and
T
29107
A
might
affect
an
individual
's
susceptibility
in
developing
ESCC
,
making
them
efficient
potential
genetic
biomarkers
for
early
detection
of
ESCC
.
Diseases
Validation
Diseases presenting
"early detection"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
congenital diaphragmatic hernia
cowden syndrome
cystinuria
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal squamous cell carcinoma
fabry disease
homocystinuria without methylmalonic aciduria
inclusion body myositis
kallmann syndrome
krabbe disease
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
pyomyositis
von hippel-lindau disease
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