Ukrainian Neurosurgical Journal,
Год журнала:
2024,
Номер
30(4), С. 11 - 22
Опубликована: Дек. 30, 2024
The
updated
2021
WHO
Classification
of
Central
Nervous
System
(CNS)
Tumors
introduces,
for
the
first
time,
an
age-based
approach
to
glioma
classification,
leveraging
advances
in
molecular
biology
and
epigenetics
CNS
tumors.
This
classification
groups
gliomas
within
category
"Gliomas,
glioneuronal
tumors,
neuronal
tumors,"
distinguishing
between
adult-type
pediatric-type
diffuse
gliomas,
corresponding
low-grade
high-grade
malignancies
(LGG
HGG),
highlighting
fundamental
role
age
gliomagenesis.
A
review
current
literature
deepens
understanding
age-related
characteristics,
differences,
patterns
gliomagenesis
across
groups,
which
is
essential
effective
diagnosis
treatment.
Pediatric-type
(pLGG
aLGG)
differ
location,
biological
behavior,
molecular-genetic
profiles.
Inherited
syndromes
(e.g.,
NF-1,
TSC)
associated
with
development
are
linked
specific
LGG
subtypes
occurring
childhood,
adolescence,
adulthood.
Moreover,
pLGG
differs
from
aLGG
its
potential
malignant
transformation
spontaneous
regression,
as
well
mutations
affecting
MAPK
(mitogen-activated
protein
kinase)
pathway.
While
(pHGG
aHGG)
share
histological
features,
they
profiles,
prognosis.
major
distinction
aHGG
pHGG
lies
such
IDH
1/2,
EGFR
gene
expression,
TERT
mutations,
chromosome
alterations
(+7/-10),
TP53
all
contributing
a
poorer
prognosis
HGG
gliomas.
Additionally,
changes
histone
proteins
H3.3
or
3.1
(H3.3
K27
H3
G34)
pHGG,
opposed
aHGG,
carry
diagnostic
prognostic
significance.
An
analysis
data
on
epidemiology,
risk
factors,
characteristic
features
considering
provided.
next
publication
will
cover
certain
clinical
aspects
this
issue.
Scientific Reports,
Год журнала:
2025,
Номер
15(1)
Опубликована: Фев. 4, 2025
This
study
aimed
to
investigate
the
potential
association
between
white
blood
cell
counts
and
risk
of
lung
cancer,
including
its
subtypes,
through
Mendelian
randomization
(MR)
analysis.
We
conducted
a
two-sample
MR
analysis
using
genome-wide
(GWAS)
summary
statistics
for
both
exposure
traits
(eosinophil
count,
neutrophil
lymphocyte
monocyte
basophil
total
count)
outcome
(lung
cancer
subtypes).
The
GWAS
dataset
included
29,266
cases
(11273
adenocarcinoma
(LUAD),
7426
squamous
carcinoma
(LSCC),
2664
small
(SCLC))
56,450
controls.
In
analysis,
we
employed
methods
such
as
Inverse
variance
weighted
(IVW),
median,
MR-Egger
regression,
pleiotropy
residual
sum
outlier.
revealed
an
elevated
(WBC)
count
significantly
increased
LUAD
(IVW:
OR
=
1.484,
95%
CI
1.219–1.749,
p
0.003).
results
confirmed
causal
relationship
1.687,
CI:1.542–1.830,
<
0.001).
An
WBC
was
associated
with
higher
LUAD.
Additionally,
subtypes
indicated
that
plays
crucial
role
in
Progress in Neuro-Psychopharmacology and Biological Psychiatry,
Год журнала:
2025,
Номер
138, С. 111317 - 111317
Опубликована: Март 11, 2025
Previous
studies
have
reported
Parkinson's
disease
(PD)
patients
usually
changes
in
brain
image-derived
phenotypes
(IDPs).
However,
the
role
of
genetic
factors
their
association
and
biological
mechanism
remains
unclear.
We
aimed
to
unveil
links
between
IDPs
PD.
Using
genome-wide
study
(GWAS)
summary
statistics
single-cell
RNA
sequencing
(scRNA-seq)
data,
we
performed
a
comprehensive
analysis
624
The
correlations
causality
were
examined
by
linkage
disequilibrium
score
regression
(LDSC),
two-sample
bidirectional
Mendelian
randomization
(MR)
meta-analysis.
Potential
shared
genes
identified
using
MAGMA
PLACO.
Finally,
pathway
enrichment
FUMA
Metascape,
scRNA-seq
determine
mechanisms
gene
expression
atlas
across
various
cell
types
tissue.
LDSC
revealed
that
50
genetically
correlated
with
PD
(P
<
0.05),
which
5
IDPs,
exhibited
putative
on
through
MR
0.05).
For
instance,
increased
volume
right
thalamus
(IVW:
OR
=
2.08,
95
%
CI:
1.33
3.25,
PFDR
0.03)
was
positively
risk
PD,
also
supported
replicated
1.63,
1.17-2.26,
0.02)
FinnGen
meta-analysis
(OR
1.78,
1.36-2.31,
5.00
×
10-4).
Additionally,
56
unique
pleiotropic
genes,
such
as
FAM13A,
notable
neuronal
cells.
Biological
these
enriched
tissues
variety
pathways
negative
regulation
neuron
apoptotic
processes.
indicated
architecture
These
findings
might
provide
insights
therapeutic
intervention
early
prediction
at
imaging
level.
Brain and Behavior,
Год журнала:
2025,
Номер
15(3)
Опубликована: Март 1, 2025
ABSTRACT
Background
The
exact
nature
of
the
link
between
breast
cancer
and
meningiomas
is
unknown,
although
observational
studies
have
shown
a
correlation
two.
Using
two‐sample
Mendelian
randomization
(MR)
strategy,
we
aimed
to
investigate
effect
on
meningiomas.
Methods
Three
sets
genetic
instruments
were
utilized
in
this
study
based
publicly
available
summary
data.
For
cancer,
selected
62
strongly
associated
SNPs;
separate
datasets
curated
for
HER2‐positive
HER2‐negative
subtypes.
MR
analyses
included
outlier
testing,
MR‐Egger
regression,
MR‐PRESSO,
weighted
median,
inverse
variance
approaches.
Results
analysis
demonstrated
significant
evidence
cancer's
meningioma
risk
(OR
=
1.213,
95%
CI
1.054–1.396,
p
0.007),
supported
by
1.456,
1.066–1.988,
0.021)
though
not
median
method
1.095,
0.914–1.311,
0.326).
Inverse
weighting
specifically
revealed
association
incidence
1.203,
1.048–1.381,
0.009).
Furthermore,
was
with
an
increased
malignant
1.64,
1.12–2.40,
0.011).
Conclusions
This
represents
first
investigating
causal
relationship
Our
findings
support
hypothesis
that
may
increase
risk.
International Journal of Women s Health,
Год журнала:
2025,
Номер
Volume 17, С. 845 - 853
Опубликована: Март 1, 2025
While
endometriosis
(EM)
has
been
previously
associated
with
multiple
immune
factors,
the
causal
relationship
underlying
these
associations
remains
unclear.
In
this
study,
Two-sample
Mendelian
randomization
(MR)
method
was
employed
to
investigate
between
731
cell
traits
and
EM
based
on
tabulated
data
from
genome-wide
association
studies
(GWAS).
MR
includes
inverse
variance
weighting
(IVW),
weighted
median
(WM),
MR-Egger,
model,
simple
model.
IVW
is
used
as
primary
for
judging
effects.
Peripheral
blood
obtained
patients,
positive
phenotype
confirmed
using
flow
cytometry.
After
P-value
correction,
our
two-sample
showed
that
CD28
CD28+
DN
(CD4-CD8-)
had
a
suggestive
(β
=0.040,
95%
CI
=1.02-1.06,
P
=0.00029,
PFDR
=
0.1984).
The
results
of
other
two
main
methods
were
similar:
Weighted
(OR
=1.031,
=1.00-1.07,
=0.082);
MR-Egger
=1.032,
=1.10-1.06,
=0.044).
cytometry
indicated
expression
level
(CD4-CD-8)
significantly
increased
in
ectopic
intima
patients.
Our
study
demonstrated
EM,
verified
by
clinical
samples.
may
provide
new
biomarkers
early
diagnosis
immunotherapy
EM.
Journal of Pain Research,
Год журнала:
2025,
Номер
Volume 18, С. 1479 - 1489
Опубликована: Март 1, 2025
Diabetes
mellitus
(DM),
herpes
zoster
(HZ)
and
its
sequelae,
post-herpetic
neuralgia
(PHN),
are
common
in
elderly
individuals.
Previous
observational
studies
have
shown
that
the
prevalence
of
HZ
PHN
conjunction
with
DM
is
increasing.
Nonetheless,
few
investigated
causal
relationships
between
risk
PHN.
A
two-sample
Mendelian
randomization
(TSMR)
analysis
was
conducted
on
genome-wide
association
study
(GWAS)
data.
We
obtained
four
separate
datasets
for
DM:
type
1
diabetes
(T1D),
2
(T2D),
mother
(mother-DM)
father
(father-DM),
two
independent
anti-varicella-zoster
virus
IgG
(VZV-IgG),
a
single
GWAS
The
inverse
variance
weighted
(IVW),
MR‒Egger,
median
mode
analyses
were
used
to
estimate
causality.
Genetically
predicted
T1D
increased
level
VZV-IgG
(IVW:
OR=1.011,
95%
CI
1.006-1.016,
P
-FDR=8.44×10-6).
T2D
OR=1.313;
1.043-1.655,
-FDR=0.041),
mother-DM
OR=7.909;
1.232-50.777,
-FDR=0.039),
father-DM
OR=11.798;
2.051-67.874,
-FDR=0.023)
No
reverse
causality
found
HZ,
PHN,
DM.
Our
research
reveals
link
genetically
determined
levels.
Additionally,
family
history
increase
These
discoveries
deepen
our
comprehension
underlying
causes
Scientific Reports,
Год журнала:
2025,
Номер
15(1)
Опубликована: Апрель 8, 2025
Research
suggests
a
potential
link
between
varicella
zoster
virus
(VZV)
and
Parkinson's
disease
(PD),
but
the
causal
relationship
anti-VZV
IgG
levels
PD
is
not
well
understood.
Using
two-sample
Mendelian
Randomization
(MR),
we
assessed
impact
of
on
risk
progression.
Our
study
found
significant
association
higher
an
increased
PD.
For
progression,
were
linked
to
greater
constipation,
insomnia,
Restless
Legs.
These
findings
remained
consistent
after
sensitivity
analyses.
In
conclusion,
our
that
elevated
may
contribute
progression
PD,
supporting
warrants
further
mechanistic
investigation.
Frontiers in Endocrinology,
Год журнала:
2024,
Номер
15
Опубликована: Июнь 11, 2024
Background
Previous
observational
studies
have
shown
conflicting
results
of
vitamins
supplementation
for
thyroid
diseases.
The
causal
relationships
between
and
diseases
are
unclear.
Therefore,
we
conducted
a
two-sample
bidirectional
Mendelian
randomization
(MR)
study
to
explore
association
circulating
vitamin
levels
with
Methods
We
performed
MR
analysis
using
genome-wide
(GWAS)
data.
Genetic
tool
variables
include
A,
B
9
,
12
C,
D,
E,
autoimmune
hyperthyroidism,
hypothyroidism,
nodules
(TNs),
Thyroid
cancer
(TC).
Inverse-variance
weighted
multiplicative
random
effects
(IVW-RE)
was
mainly
used
Analysis,
median
(WM)
Egger
were
as
supplementary
methods
evaluate
the
Sensitivity
pluripotency
evaluated
by
Cochran’s
Q
test,
MR-PRESSO,
Radial
MR,
MR-Egger
regression
leave-one-out
analysis.
Results
Positive
evidence
suggested
that
C
level
is
protective
factor
in
hypothyroidism
(OR
IVW-RE
=0.69,
95%CI:
0.58-0.83,
p
=
1.05E-04).
Reverse
Evidence
showed
genetic
susceptibility
hyperthyroidism
associated
reduced
A(OR
0.97,
95%
CI:
0.95–1.00,
4.38E-02),
TNs
an
increased
D
1.02,
1.00–1.03,
6.86E-03).
No
reverse
relationship
detected
other
Conclusion
Our
findings
provide
supporting
bi-directional
These
information
clinical
application
prevention
treatment
