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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
.
