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Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects.
[22q11.2 deletion syndrome]
The
22
q
11
.
2
deletion
syndrome
(
22
q
11
.
2
DS
)
carries
the
highest
genetic
risk
factor
for
the
development
of
schizophrenia
.
We
investigated
the
association
of
genetic
variants
in
two
schizophrenia
candidate
genes
with
executive
function
(
EF
)
and
IQ
in
22
q
11
.
2
DS
individuals
.
Ninety
two
individuals
with
22
q
11
.
2
deletion
were
studied
for
the
genetic
association
between
COMT
and
PRODH
variants
and
EF
and
IQ
.
Subjects
were
divided
into
children
(
under
12
years
old
)
,
adolescents
(
between
12
and
18
years
old
)
and
adults
(
older
than
18
years
)
,
and
genotyped
for
the
COMT
Val
158
Met
(
rs
4680
)
and
PRODH
Arg
185
Trp
(
rs
48
1975
6
)
polymorphisms
.
The
participants
underwent
psychiatric
evaluation
and
EF
assessment
.
Our
main
finding
is
a
significant
influence
of
the
COMT
Val
158
M
et
polymorphism
on
both
IQ
and
EF
performance
.
Specifically
,
22
q
11
.
2
DS
subjects
with
Met
Â
allele
displayed
higher
IQ
scores
in
all
age
groups
compared
to
Val
carriers
,
reaching
significance
in
both
adolescents
and
adults
.
The
Met
Â
allele
carriers
performed
better
than
Val
carriers
in
EF
tasks
,
being
statistically
significant
in
the
adult
group
.
PRODH
Arg
185
T
rp
variant
did
not
affect
IQ
or
EF
in
our
22
q
11
.
2
DS
cohort
.
In
conclusion
,
functional
COMT
variant
,
but
not
PRODH
,
affects
IQ
and
EF
in
22
q
11
.
2
DS
subjects
during
neurodevelopment
with
a
maximal
effect
at
adulthood
.
Future
studies
should
monitor
the
cognitive
performance
of
the
same
individuals
from
childhood
to
old
age
.
Diseases
Validation
Diseases presenting
"cognitive performance of the same individuals"
symptom
22q11.2 deletion syndrome
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