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CYP17 polymorphism and tamoxifen-induced hepatic steatosis.
[aromatase deficiency]
Hepatic
steatosis
is
a
frequent
complication
,
which
sometimes
develops
nonalcoholic
steatohepatitis
(
NASH
)
,
in
breast
cancer
patients
treated
with
tamoxifen
,
a
potent
antagonist
of
estrogen
.
Recently
we
reported
the
impairment
of
fatty
acid
beta
-oxidation
and
the
enhancing
fatty
infiltration
to
hepatocytes
in
aromatase
deficiency
(
ArKO
)
mice
as
the
estrogen
deficiency
models
.
This
experimental
observation
let
us
speculate
strong
link
between
estrogen
and
hepatic
steatosis
.
In
this
study
,
we
investigated
whether
a
polymorphism
in
the
cytochrome
P
450
c
17
alpha
gene
(
CYP
17
)
,
which
is
associated
with
circulating
estrogen
levels
,
influences
the
development
of
tamoxifen-induced
hepatic
steatosis
.
This
consecutive
study
included
180
breast
cancer
patients
undergoing
tamoxifen
treatment
.
Genomic
DNA
extracted
from
the
peripheral
blood
of
each
patient
was
analyzed
by
restriction
fragment
length
polymorphism
(
defined
as
the
A
1
and
A
2
alleles
)
.
The
extent
of
hepatic
steatosis
was
assessed
by
computed
tomography
(
CT
)
as
the
liver
/
spleen
(
L
/
S
)
ratio
.
While
receiving
adjuvant
tamoxifen
,
57
of
180
patients
developed
hepatic
steatosis
(
L
/
S
ratio
<
0
.
9
)
without
obvious
changes
in
body
mass
index
(
BMI
)
.
We
observed
a
significant
association
between
the
A
2
/
A
2
genotype
and
the
development
of
hepatic
steatosis
compared
with
the
A
1
/
A
1
genotype
[
odds
ratio
(
OR
)
,
3
.
60
;
95
%
confidence
interval
(
C
.
I
.
)
=
1
.
42
-
9
.
10
]
.
The
A
1
/
A
2
genotype
was
at
an
intermediately
increased
risk
of
hepatic
steatosis
(
OR
,
2
.
24
;
95
%
C
.
I
.
=
0
.
99
-
5
.
08
)
.
The
presence
of
the
A
2
allele
possibly
increased
the
progression
of
hepatic
steatosis
with
a
gene
dosage
effect
(
P
=
0
.
06
)
.
Our
results
suggest
that
functional
polymorphism
in
CYP
17
may
be
involved
in
determining
susceptibility
of
tamoxifen-induced
hepatic
steatosis
.
Diseases
Validation
Diseases presenting
"hepatic steatosis"
symptom
adrenal incidentaloma
aromatase deficiency
cushing syndrome
werner syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated