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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
"breast cancer"
symptom
acute rheumatic fever
aromatase deficiency
carcinoma of the gallbladder
child syndrome
cowden syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
esophageal squamous cell carcinoma
junctional epidermolysis bullosa
kindler syndrome
liposarcoma
lymphangioleiomyomatosis
oral submucous fibrosis
proteus syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
von hippel-lindau disease
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
This symptom has already been validated