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Uracil-DNA glycosylase (UNG) rs246079 G/A polymorphism is associated with decreased risk of esophageal cancer in a Chinese population.
[esophageal squamous cell carcinoma]
Esophageal
cancer
is
the
sixth
leading
cause
of
cancer
-associated
death
worldwide
.
In
addition
to
environmental
risk
factors
,
genetic
factors
might
play
an
important
role
in
esophageal
cancer
carcinogenesis
.
We
conducted
a
hospital-based
case-control
study
to
evaluate
the
association
between
functional
single
nucleotide
polymorphisms
(
SNPs
)
in
uracil-
DNA
glycosylase
(
UNG
)
and
the
development
of
esophageal
cancer
.
A
total
of
380
esophageal
squamous
cell
carcinoma
(
ESCC
)
cases
and
380
controls
were
recruited
for
this
study
.
The
UNG
rs
3219218
A
/
G
and
UNG
rs
246079
G
/
A
genotypes
were
determined
using
matrix-assisted
laser
desorption
/
ionization
time-of-flight
mass
spectrometry
(
MALDI-TOF
MS
)
.
When
the
UNG
rs
246079
GG
homozygote
genotype
was
used
as
the
reference
group
,
the
GA
genotype
was
associated
with
a
significantly
decreased
risk
for
ESCC
(
GA
vs
.
GG
:
adjusted
OR
0
.
67
,
95
%
CI
0
.
49
-
0
.
91
,
P
=
0
.
011
)
;
the
AA
genotype
was
not
associated
with
the
risk
of
ESCC
.
In
stratification
analyses
,
a
significantly
decreased
risk
of
ESCC
associated
with
the
UNG
rs
246079
G
/
A
polymorphism
was
evident
among
women
,
younger
patients
and
never-smokers
and
never-drinkers
.
The
UNG
rs
3219218
A
/
G
polymorphism
was
not
associated
with
the
risk
for
ESCC
.
These
findings
indicated
that
UNG
rs
246079
G
/
A
might
contribute
to
a
decreased
risk
of
ESCC
in
specific
populations
.
Because
of
the
limited
sample
size
,
further
studies
including
a
larger
and
more
diverse
population
,
as
well
as
tissue-
specific
biological
characterization
,
are
required
to
confirm
the
current
findings
.
Diseases
Validation
Diseases presenting
"limited sample size"
symptom
esophageal squamous cell carcinoma
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