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Genetic polymorphisms in the 9p21 region associated with risk of multiple cancers.
[esophageal squamous cell carcinoma]
The
chromosome
9
p
21
region
has
been
implicated
in
the
pathogenesis
of
multiple
cancers
.
We
analyzed
9
p
21
single
nucleotide
polymorphisms
(
SNPs
)
from
eight
genome-
wide
association
studies
(
GWAS
)
with
data
deposited
in
dbGaP
,
including
studies
of
esophageal
squamous
cell
carcinoma
(
ESCC
)
,
gastric
cancer
(
GC
)
,
pancreatic
cancer
,
renal
cell
carcinoma
(
RCC
)
,
lung
cancer
(
LC
)
,
breast
cancer
(
BrC
)
,
bladder
cancer
(
BC
)
and
prostate
cancer
(
PrC
)
.
The
number
of
subjects
ranged
from
2252
(
PrC
)
to
7619
(
LC
)
.
SNP-level
analyses
for
each
cancer
were
conducted
by
logistic
regression
or
random-effects
meta
-analysis
.
A
subset-based
statistical
approach
(
ASSET
)
was
performed
to
combine
SNP-level
P
values
across
multiple
cancers
.
We
calculated
gene
-level
P
values
using
the
adaptive
rank
truncated
product
method
.
We
identified
that
rs
1063192
and
rs
2157719
in
the
CDKN
2
A
/
2
B
region
were
significantly
associated
with
ESCC
and
rs
2764736
(
3
'
of
TUSC
1
)
was
associated
with
BC
(
P
≤
2
.
59
×
10
(
-
6
)
)
.
ASSET
analyses
identified
four
SNPs
significantly
associated
with
multiple
cancers
:
rs
3731239
(
CDKN
2
A
intronic
)
with
ESCC
,
GC
and
BC
(
P
=
3
.
96
×
10
(
-
)
(
4
)
)
;
rs
10811474
(
3
'
of
IFNW
1
)
with
RCC
and
BrC
(
P
=
0
.
001
)
;
rs
12683422
(
LINGO
2
intronic
)
with
RCC
and
BC
(
P
=
5
.
93
×
10
(
-
)
(
4
)
)
and
rs
10511729
(
3
'
of
ELAVL
2
)
with
LC
and
BrC
(
P
=
8
.
63
×
10
(
-
)
(
4
)
)
.
At
gene
level
,
CDKN
2
B
,
CDKN
2
A
and
CDKN
2
B
-AS
1
were
significantly
associated
with
ESCC
(
P
≤
4
.
70
×
10
(
-
)
(
5
)
)
.
Rs
10511729
and
rs
10811474
were
associated
with
cis-expression
of
9
p
21
genes
in
corresponding
cancer
tissues
in
the
expression
quantitative
trait
loci
analysis
.
In
conclusion
,
we
identified
several
genetic
variants
in
the
9
p
21
region
associated
with
the
risk
of
multiple
cancers
,
suggesting
that
this
region
may
contribute
to
a
shared
susceptibility
across
different
cancer
types
.
Diseases
Validation
Diseases presenting
"rs2764736"
symptom
esophageal squamous cell carcinoma
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