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Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels.
[adrenal incidentaloma]
Systematic
evaluation
of
the
potential
relationship
between
the
common
genetic
variants
of
CYP
21
A
2
and
hormone
levels
.
The
relationships
of
CYP
21
A
2
intron
2
polymorphisms
and
haplotypes
with
diverse
baseline
and
stimulated
blood
hormone
levels
were
studied
in
106
subjects
with
non-functioning
adrenal
incidentaloma
(
NFAI
)
.
The
rationale
for
using
NFAI
subjects
is
dual
:
i
)
their
baseline
hormone
profiles
do
not
differ
from
those
of
healthy
subjects
and
ii
)
hormone
levels
after
stimulation
tests
are
available
.
The
carriers
(
N
=
27
)
of
a
well-defined
CYP
21
A
2
haplotype
cluster
(
c
5
)
had
significantly
elevated
levels
of
cortisol
(
p
=
0
.
0110
)
,
and
17
-
hydroxyprogesterone
(
p
=
0
.
0001
)
after
ACTH
stimulation
,
and
11
-
deoxycortisol
after
metyrapone
administration
(
p
=
0
.
0017
)
,
but
the
hormone
values
were
in
normal
ranges
.
In
addition
,
the
carriers
(
N
=
33
)
of
the
C
allele
of
the
rs
6462
polymorphism
had
a
higher
baseline
aldosterone
level
(
p
=
0
.
0006
)
.
The
prevalence
of
these
genetic
variants
of
CYP
21
A
2
did
not
differ
between
NFAI
and
healthy
subjects
.
The
common
CYP
21
A
2
variants
presumably
exert
the
same
effect
on
hormone
levels
in
the
healthy
and
disease-affected
populations
.
Therefore
,
they
may
contribute
to
complex
diseases
such
as
some
cardiovascular
diseases
,
and
may
influence
the
genotype-phenotype
correlation
in
patients
with
congenital
adrenal
hyperplasia
(
CAH
)
including
the
individual
need
for
hormone
substitution
.
Diseases
Validation
Diseases presenting
"congenital adrenal hyperplasia"
symptom
adrenal incidentaloma
aromatase deficiency
congenital adrenal hyperplasia
cushing syndrome
phenylketonuria
This symptom has already been validated
