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Matrix metalloproteinase 1, 3, and 9 polymorphisms and esophageal squamous cell carcinoma risk.
[esophageal squamous cell carcinoma]
Background
Matrix
metalloproteinases
(
MMPs
)
are
multifunctional
zinc-dependent
proteinases
that
play
a
fundamental
role
in
the
pathogenesis
of
tumors
.
We
have
analyzed
the
association
between
3
single
-nucleotide
polymorphisms
(
SNPs
;
MMP
1
-
1607
1
G
/
2
G
,
MMP
3
-
1612
5
A
/
6
A
,
and
MMP
9
-
1562
C
/
T
)
and
the
risk
of
esophageal
squamous
cell
carcinoma
(
ESCC
)
.
Material
and
Methods
We
investigated
these
3
SNPs
in
132
patients
and
132
controls
using
polymerase
chain
reaction-restriction
fragment
length
polymorphism
methods
.
The
MMP
1
and
MMP
3
genes
are
located
on
the
same
chromosome
.
Haplotype
analysis
was
performed
to
study
the
combined
effect
of
the
linked
MMP
polymorphisms
on
ESCC
risk
.
Results
The
MMP
1
and
MMP
9
promoter
polymorphisms
were
not
associated
with
ESCC
risk
,
while
the
MMP
3
-
1612
5
A
/
6
A
polymorphism
was
significantly
associated
with
susceptibility
to
ESCC
.
Patients
carrying
the
5
A
allele
had
a
significantly
higher
risk
for
developing
ESCC
compared
with
individuals
carrying
the
6
A
allele
(
OR
=
1
.
93
;
95
%
CI
1
.
34
-
2
.
77
;
p
<
0
.
01
)
.
The
2
G-
5
A
and
1
G-
5
A
haplotypes
were
associated
with
a
significantly
increased
risk
of
ESCC
as
compared
with
the
2
G-
6
A
haplotype
(
OR
=
2
.
04
,
95
%
CI
1
.
37
-
3
.
04
and
OR
=
3
.
65
,
95
%
CI
1
.
26
-
10
.
55
,
respectively
)
.
Conclusions
These
findings
implicate
this
MMP
3
polymorphism
as
a
contributor
to
ESCC
susceptibility
.
Diseases
Validation
Diseases presenting
"significantly increased risk"
symptom
carcinoma of the gallbladder
cholangiocarcinoma
epidermolysis bullosa simplex
esophageal squamous cell carcinoma
waldenström macroglobulinemia
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