Understanding
the
genetic
architecture
of
a
disease
is
crucial
for
development
valid
diagnostic
and
therapeutic
interventions.
The
analysis
genomic
variations
associated
with
pathological
conditions
starting
point
uncovering
disease-causing
pathways
(candidate
processes).
However,
complexity
intergenic
genetic-environmental
interactions
hinders
identification
pathogenic
values
changes.
Furthermore,
heredity,
epigenetics
somatic
mosaicism
make
interpretation
data
even
more
sophisticated.
To
succeed,
variety
bioinformatic
techniques
are
applied.
Here,
reviewing
own
literature
data,
knowledge-based
prioritization
described.
Theoretical
basis
given
special
regard
to
gene
ontology,
heuristics,
hermeneutics
(genomic
hermeneutics)
analytics.
Practical
methodological
issues
using
ontology-
or
pathway-based
systems
considered
in
light
optimistic
realistic
scenarios
cumulative
phenotypic
effects
variome
(the
whole
set
an
individual
specific
outcome).
In
present
communication,
copy
number
variants
(CNVs)
children
neurodevelopmental
diseases
used
as
practical
foundation
prioritization,
inasmuch
these
genome
systematically
overlooked
so-called
NGS
era.
Nonetheless,
it
highly
likely
that
applicable
almost
all
types
(e.g.
chromosome
abnormalities,
mutations,
functional
synonymous
etc.).
methodology
seems
be
valuable
addition
current
biomedical
science
widening
opportunities
medical
genomics
genetics.
Molecular Psychiatry,
Год журнала:
2024,
Номер
29(9), С. 2834 - 2848
Опубликована: Март 26, 2024
Immunopsychiatric
field
has
rapidly
accumulated
evidence
demonstrating
the
involvement
of
both
innate
and
adaptive
immune
components
in
psychotic
disorders
such
as
schizophrenia.
Nevertheless,
researchers
are
facing
dilemmas
discrepant
findings
immunophenotypes
outside
inside
brains
patients,
discovered
by
recent
meta-analyses.
These
discrepancies
make
interpretations
interrogations
on
their
roles
psychosis
remain
vague
even
controversial,
regarding
whether
certain
cells
more
activated
or
less
so,
they
causal
consequential,
beneficial
harmful
for
psychosis.
Addressing
these
issues
is
not
at
all
trivial,
either
brain
an
enormously
heterogeneous
plastic
cell
population,
falling
into
a
vast
range
lineages
subgroups,
functioning
differently
malleably
context-dependent
manners.
This
review
aims
to
overview
currently
known
patients
with
psychosis,
provocatively
suggest
premature
"burnout"
inflamm-aging
initiated
since
organ
development
potential
primary
mechanism
behind
pathogenesis
disorders.
International Journal of Molecular Sciences,
Год журнала:
2025,
Номер
26(1), С. 310 - 310
Опубликована: Янв. 1, 2025
Schizophrenia
(SZ),
a
complex
psychiatric
disorder
of
neurodevelopment,
is
characterised
by
range
symptoms,
including
hallucinations,
delusions,
social
isolation
and
cognitive
deterioration.
One
the
hypotheses
that
underlie
SZ
related
to
inflammatory
events
which
could
be
partly
responsible
for
symptoms.
However,
it
unknown
how
molecules
can
contribute
decline
in
SZ.
This
review
summarises
exposes
possible
contribution
imbalance
between
pro-inflammatory
anti-inflammatory
interleukins
like
IL-1beta,
IL-4
TNFalfa
among
others
on
impairment.
We
discuss
this
affects
microglia
astrocytes
inducing
disruption
blood–brain
barrier
(BBB)
SZ,
impact
prefrontal
cortex
or
associative
areas
involved
executive
functions
such
as
planning
working
tasks.
also
highlight
generated
intestinal
microbiota
alterations,
due
dysfunctional
microbial
colonisers
use
some
anti-psychotics,
central
nervous
system.
Finally,
question
arises
whether
modulate
correct
characterises
if
an
immunomodulatory
strategy
incorporated
into
conventional
clinical
treatments,
either
alone
complement,
applied
specific
phases,
prodromal
first-episode
psychosis.
Egyptian Journal of Medical Human Genetics,
Год журнала:
2025,
Номер
26(1)
Опубликована: Янв. 14, 2025
Abstract
Background
Obsessive–compulsive
disorder
(OCD)
is
a
common
and
often
highly
debilitating
chronic
neuropsychiatric
condition.
There
substantial
evidence
that
immune
system
genetic
changes
are
involved
in
OCD
pathogenesis.
Only
few
studies
have
been
encountered
the
literature
this
field.
We
aimed
at
providing
experimental
for
single
nucleotide
polymorphisms
(SNPs)
candidate
cytokine
genes
etiology
of
OCD.
Methods
A
total
52
patients
54
healthy
controls
were
randomly
recruited
from
Jordanian
population.
Age
ranged
between
16
55
years
(35.5
±
13.72
33.5
10.48
years)
controls,
respectively.
Five
polymorphic
positions
four
interleukin
(IL-1β;
rs16944
rs1143634,
IL-6;
rs1800795,
IL-10;
rs1800896
rs1800795)
genotyped
using
polymerase
chain
reaction–restriction
fragment
length
polymorphism
(PCR–RFLP)
method.
The
tumor
necrosis
factor-α
(TNF-α)
SNP
(rs1800629)
DNA
was
sequenced
by
Sanger
obtained
data
analyzed
GraphPad
Prism
Results
no
statistically
significant
differences
alleles
genotypes
opposite
groups.
However,
there
positive
association
incidence
studied
non-OCD
individuals.
two
SNPs
(IL-1β
+
3954
C
>
T
TNF-α-308
G
A)
more
predominant
positively
correlated
with
higher
risk
women.
In
contrast,
link
gender
occurrence
mutant
other
IL-1β
(−
511
T);
IL-6
174
C);
IL-10
1082
G);
819
robust
males
than
corresponding
females.
Conclusion
observed
different
groups
may
be
due
to
an
tested
samples
rather
true
association.
But,
possibility
critical
effect
still
exists.
One
might
want
explore
further
repeating
study
larger
sample
size.
Genes,
Год журнала:
2025,
Номер
16(4), С. 371 - 371
Опубликована: Март 24, 2025
Neuropsychiatric
disorders
are
complex
conditions
with
multifactorial
etiologies,
in
which
genetics
play
a
pivotal
role.
Despite
significant
advancements
psychiatric
research,
traditional
treatment
options
remain
largely
symptomatic,
focusing
on
clinical
signs
without
fully
addressing
the
underlying
biological
causes.
However,
recent
developments
precision
medicine—an
approach
that
tailors
treatments
based
genetic,
environmental,
and
lifestyle
factors—hold
great
promise
for
transforming
of
these
disorders.
By
identifying
specific
genetic
markers
understanding
gene–environment
interactions,
medicine
can
offer
more
personalized
effective
treatments,
leading
to
better
patient
outcomes.
Our
primary
aim
was
explore
how
integrating
data
environmental
factors
could
enhance
neuropsychiatric
such
as
schizophrenia,
bipolar
disorder,
depression.
The
secondary
examine
potential
pharmacogenomics
gene
therapy
improving
therapeutic
strategies.
results
indicate
while
progress
has
been
made,
challenges
remain,
including
complexity
interactions
need
granular
phenotypic
data.
In
conclusion,
revolutionize
by
providing
individualized
care
considers
makeup,
influences,
factors,
paving
way
therapies
improved
Aging and Disease,
Год журнала:
2024,
Номер
unknown
Опубликована: Янв. 1, 2024
Microglia
are
crucial
immune
cells
found
in
the
central
nervous
system.
Multiple
investigations
have
substantiated
correlation
between
development
of
depression
and
neuroinflammation
resulting
from
impaired
microglial
activity.
Through
extensive
research
on
phenotype,
function,
imaging
technology,
multi-omics
analysis,
vitro
culture
microglia
depressive
disorder,
understanding
relationship
has
become
more
intricate.
Various
therapeutic
approaches
been
suggested,
but
a
thorough
analysis
obstacles
to
clinical
application
not
conducted.
This
paper
explores
innovative
advancement
detection
recent
findings
identification
epigenetic
modification,
variability
different
conditions,
dysfunction
onset
depression,
progress
challenges
microglia-targeted
therapy
for
current
future
prospects
studying
dysregulated
function
disorders.
Gene Expression,
Год журнала:
2024,
Номер
000(000), С. 000 - 000
Опубликована: Июль 5, 2024
Background
and
objectivesType
1
bipolar
disorder
(BP)
is
a
mental
illness
characterized
by
extreme
shifts
in
mood,
oscillating
between
manic
depressive
episodes.
It
ranks
as
the
sixth
most
prevalent
psychiatric
globally,
often
emerging
teenage
years.
This
study
aimed
to
identify
associations
BP
15
insertion/deletion
(Indel)
polymorphisms
human
genome,
examining
genes
including
TPA,
UCP2,
HLA-G,
FADS2,
ADRA2B,
VEGF,
PDCD6IP,
SLC6A4,
TLR2,
APOB,
TP53,
LRPAP1,
DHFR,
MDM2,
DBH.
Biology,
Год журнала:
2024,
Номер
13(10), С. 787 - 787
Опубликована: Сен. 30, 2024
Bipolar
disorder
(BPD)
is
a
serious
psychiatric
condition
that
characterized
by
the
frequent
shifting
of
mood
patterns,
ranging
from
manic
to
depressive
episodes.
Although
there
are
already
treatment
strategies
aim
at
regulating
manifestations
this
disorder,
its
etiology
remains
unclear
and
continues
be
question
interest
within
scientific
community.
The
development
RNA
sequencing
techniques
has
provided
newer
better
approaches
studying
disorders
transcriptomic
level.
Hence,
using
RNA-seq
data,
we
employed
intramodular
connectivity
analysis
network
pharmacology
assessment
disease-associated
variants
elucidate
biological
pathways
underlying
complex
nature
BPD.
This
study
was
intended
characterize
expression
profiles
obtained
three
regions
in
brain,
which
nucleus
accumbens
(nAcc),
anterior
cingulate
cortex
(AnCg),
dorsolateral
prefrontal
(DLPFC),
provide
insights
into
specific
roles
these
onset
present
potential
targets
for
drug
design
development.
nAcc
found
highly
associated
with
genes
responsible
deregulated
transcription
neurotransmitters,
while
DLPFC
greatly
correlated
involved
impairment
components
crucial
neurotransmission.
AnCg
did
show
association
some
expressions,
but
relationship
not
as
strong
other
two
regions.
Furthermore,
or
single
nucleotide
polymorphisms
(SNPs)
were
identified
among
significant
BPD,
suggests
genetic
interrelatedness
such
mental
illnesses.
DRD2,
GFRA2,
DCBLD1
expressed
nAcc;
ST8SIA2
ADAMTS16
AnCg;
FOXO3,
ITGA9,
CUBN,
PLCB4,
RORB
DLPFC.
Aside
unraveling
molecular
cellular
mechanisms
behind
investigation
envisioned
propose
new
research
pipeline
transcriptome
support
improve
existing
studies.