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Association between autism spectrum disorder in individuals with velocardiofacial (22q11.2 deletion) syndrome and PRODH and COMT genotypes.
[22q11.2 deletion syndrome]
Velocardiofacial
(
VCFS
;
22
q
11
.
2
deletion
)
syndrome
is
a
genetic
disorder
that
results
from
a
hemizygous
deletion
of
the
q
11
.
2
region
on
chromosome
22
,
and
is
associated
with
greatly
increased
risk
for
psychiatric
disorders
,
including
autism
spectrum
disorder
(
ASD
)
and
schizophrenia
.
There
is
emerging
evidence
for
the
involvement
of
catechol-
O-
methyltransferase
(
COMT
)
and
proline
dehydrogenase
(
oxidase
)
1
(
PRODH
)
in
the
psychiatric
phenotype
of
individuals
with
VCFS
.
Here
,
we
tested
the
hypothesis
that
PRODH
and
COMT
are
associated
with
ASD
in
youths
with
VCFS
.
We
found
that
individuals
with
VCFS
and
the
low
-activity
alleles
of
both
PRODH
and
COMT
(
rs
48
1975
6
A
and
rs
4680
A
)
were
more
likely
to
present
with
ASD
as
compared
with
individuals
with
VCFS
and
the
high
-activity
alleles
of
these
genes
[
P
<
0
.
05
;
odds
ratio
=
6
.
0
(
95
%
confidence
interval
=
1
.
27
-
28
.
26
;
N
=
87
)
]
.
Our
results
suggest
that
PRODH
and
COMT
may
interact
to
contribute
to
the
ASD
phenotype
in
individuals
with
VCFS
.
