European Psychiatry - Volume 41 - April 2017

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25th European Congress of Psychiatry / European Psychiatry 41S (2017) S106–S169 S167
protein folding were also significantly associated but accounted
for less than 1% of the variance. With APOE excluded, all path-
ways remained significant except proteasome-ubiquitin activity
and protein folding.
Conclusions Genetic risk for LOAD can be split into contributions
from different biological pathways. These offer a means to explore
disease mechanisms and to stratify patients.
Disclosure of interest The authors have not supplied their decla-
ration of competing interest.
EW0184
Peripheral levels of the micro-RNA
miR-1202 are correlated with changes
in brain activity and connectivity
during an antidepressant treatment
J.P. Lopez , F. Pereira , S. Richard-Devantoy , Y. Ding ,
L.M. Fiori , P. Niola , G. Turecki , F. Jollant ∗
1 Max Plank Institute, Stress Neurobiology and Neurogenetics,
Munich, Germany
2 Human genetics department, McGill University, Montreal, Canada
3 Radiology department, Nîmes Academic Hospital, Nîmes, France
4 Psychiatry department, McGill University, Montreal, Canada
5 Biomedical Science department, Università degli studi Di Cagliar,
Cagliari, Italy
6 Psychiatry department, Nîmes Academic Hospital, Nîmes, France
∗ Corresponding author.
Introduction Micro-RNAs are short non-coding sequences play-
ing a major role in regulating gene expression. Peripheral levels
of the micro-RNA miR-1202 have been shown to predict antide-
pressant response and to change during treatment. However, it is
not clear to what extent these peripheral measures reflect central
neural changes in vivo.
Objectives We aimed at investigating a potential link between
peripheral micro-RNA and neuroimaging measures.
Methods At baseline and after 8 weeks of desvenlafaxine
(50–100mg die), twenty depressed patients were scanned with 3 T
magnetic resonance imaging, first at rest then during the Go/NoGo
task, a classical test of response inhibition. Blood samples were
taken for RNA extraction.
Results During resting state, baseline miR-1202 levels were pre-
dictive of decreased connectivity between the posterior cingulate
and the prefrontal, occipital and parietal cortices. Changes in miR-
1202 levels were correlated with changes in activity in right
precuneus within the default-mode network, and with decreased
connectivity between the posterior cingulate and the temporal and
prefrontal cortices, and the precuneus. During the Go/NoGo task,
baseline levels and changes in these levels were correlated with
activity changes in different regions, including bilateral prefrontal,
insular, cingulate, and temporal cortices. Finally, secondary analy-
ses suggest an association between miR-1202 levels and glutamate
levels measured by spectroscopy in dorsomedial prefrontal cortex.
Conclusions This is the first study showing that baseline and
changes in peripheral levels of onemicro-RNAwere associatedwith
changes in brain activity and connectivity during an antidepres-
sant treatment. MiR-1202 may act through the modulation of the
glutamatergic system.
Disclosure of interest The authors have not supplied their decla-
ration of competing interest.
EW0185
Concomitant 3q13.31 microdeletion
and ring chromosome 22 in a patient
with severe developmental delay,
ventriculomegaly, and Dandy-walker
malformation
A. Kashevarova ∗, E. Belyaeva , N. Skryabin , S. Vasilyev ,
M. Lopatkina , L. Nazarenko , A. Nikonov , I. Lebedev
1 Research Institute of Medical Genetics- Tomsk National Research
Medical Center- Russian Academy of Sciences, Laboratory of
Cytogenetics, Tomsk, Russia
2 Tomsk State University, Laboratory of Human Ontogenetics, Tomsk,
Russia
3 Research Institute of Medical Genetics, Tomsk National Research
Medical Center, Russian Academy of Sciences, Laboratory of
Hereditary Pathology, Tomsk, Russia
4 Diagnostic Center of Altai Region, Medical and Genetic Clinic,
Barnaul, Russia
∗ Corresponding author.
Introduction Over 20% of patients with developmental delay
(DD) has copy number variations (CNV) of unknown significance.
Some CNV may be associated with disease in a patient and also
present in their apparently healthy parents. According to the two-
hit model another CNV may contribute to phenotypic variation of
such genomic disorders.
Objectives DD diagnostics improvement.
Aims Understanding the pathogenic significance of concomitant
3q13.31 and 22q13.32-q13.33 microdeletions.
Methods Ring chromosome 22was first detected by conventional
cytogenetics. Microdeletions at 3q13.31 and 22q13.32–q13.33
were revealed by agilent technologies 60 K microarray and con-
firmed by qPCR. Ring chromosome was confirmed by FISH.
Results We present a four-year-old girl with del22q13.32-q13.33
resulted in a ring chromosome 22 and a single TUSC7 gene
microdeletion at 3q13.31. The del22q13.32-q13.33 originated de
novo, whereas del3q13.31 was inherited from healthy mother. The
22q13.32-q13.33 locus is associated with Phelan-McDermid syn-
drome (PHMDS, OMIM606232). The patient demonstrated features
both typical for the syndrome (psychomotor and speech develop-
ment delay, autistic signs, aggression, sleep alteration, seizures)
and atypical – attention deficit-hyperactivity disorder (ADHD),
ventriculomegaly, and reduced size of cerebella hemispheres
(Dandy-Walker variant). ADHD and ventriculomegaly were previ-
ously described in patients with del3q13.31 (OMIM 615433) but
Dandy-Walker variant was observed in our patient for the first
time. Possibly, atypical for PHMDS features, may result from trans-
epistasis of microdeletions.
Conclusions Multiple CNVs in one patient complicate genotype-
phenotype correlations due to possible overlapping phenotypes
and/or modifying effect of variants. This study was supported by
Russian Science Foundation, grant no. 16-15-10231.
Disclosure of interest The authors have not supplied their decla-
ration of competing interest.
EW0186
CYP450 enzymes genetic
polymorphism influence on
treatment of affective disorders
A. Lengvenyt ˙e ∗, R. Strumila , E. Dlugauskas , A. Utkus
1 Clinic of Psychiatry, Vilnius University, Faculty of Medicine, Vilnius,
Lithuania
2 Vilnius University, Faculty of Medicine, Vilnius, Lithuania
3 Clinic of Psychiatry, Department of Psychiatry, Center of Neurology,
Vilnius University, Vilnius, Lithuania
4 Department of Human and Medical Genetics, Vilnius University,
Center for Medical Genetics, Vilnius, Lithuania
∗ Corresponding author.
Introduction Individualized treatment decisions in psychiatry
may be important, since substantial part of first choice drugs are