International Journal of Biomedical Science and Engineering,
Год журнала:
2024,
Номер
12(2), С. 34 - 41
Опубликована: Дек. 16, 2024
Intervertebral
disc
degeneration
(IVDD)
is
a
prevalent
degenerative
disease
and
risk
factors
for
it
are
complex
diverse.
Due
to
limitations
in
observational
research,
identifying
causal
remains
challenging.
Mendelian
randomization
(MR),
leveraging
genetic
variation
as
an
instrumental
variable
(IV),
has
emerged
powerful
tool
study
associations,
overcoming
issues
of
confounding
bias
reverse
causality.
This
review
aims
summarise
the
progress
MR
exploring
relationship
between
IVDD
various
associated
factors.
By
summarizing
56
relevant
publications
retrieved
from
Pubmed
database,
this
found
significant
links
such
inflammatory
cytokines,
metabolism-related
molecules,
bacteria,
smoking,
high
bone
mineral
density.
Conversely,
no
associations
were
with
LDL,
total
cholesterol,
ApoB,
serum
uric
acid
levels,
physical
activity,
osteoporosis.
Finally,
not
only
supports
findings
but
also
opens
new
avenues
future
research
into
causes.
Identifying
risk
factors
for
disease
onset
and
progression
has
been
a
core
focus
in
nephrology
research.
Mendelian
Randomization
(MR)
emerged
as
powerful
genetic
epidemiological
approach,
utilizing
genome-wide
association
studies
(GWAS)
to
establish
causal
relationships
between
modifiable
kidney
outcomes.
MR
uses
variants
instrumental
variables
infer
exposures
This
method
leverages
the
natural
randomization
of
balance
confounders,
akin
matched
cohorts
observational
The
rapid
increase
on
poses
challenges
journals
peer
reviewers,
especially
clinicians
unfamiliar
with
methodology.
High-quality
use
strong,
well-validated
instruments
clear
biological
relevance,
thoroughly
testing
pleiotropy
confounding
using
methods
like
MR-Egger.
Sensitivity
analyses,
such
MR-PRESSO,
should
ensure
findings
remain
consistent
across
various
assumptions.
Effect
sizes
confidence
intervals
be
reported
discussed
within
established
mechanisms.
Additionally,
limitations
must
transparently
addressed,
recommendations
replication
future
studies,
strengthen
findings.
article
guides
readers
understanding
application
identifying
high-quality
helping
peers
avoid
pitfalls
while
seizing
new
opportunities
advancing
Brain and Behavior,
Год журнала:
2025,
Номер
15(1)
Опубликована: Янв. 1, 2025
ABSTRACT
Introduction
The
interplay
between
emotional
disorders
and
thyroid
has
been
subject
to
numerous
observational
studies,
which
have
consistently
reported
associations
but
failed
establish
clear
causal
links
due
the
multifactorial
etiology
influences.
We
conducted
a
bidirectional
two‐sample
Mendelian
randomization
(MR)
analysis
explore
genetic
association
disorders.
Methods
employed
several
methods,
including
inverse‐variance
weighted
(IVW),
median,
mode,
MR
Egger
regression.
Additionally,
sensitivity
analyses
were
using
MR‐Egger,
Pleiotropy
Residual
Sum
Outlier
(MR‐PRESSO),
Cochran's
Q,
leave‐one‐out
methods.
Results
IVW
results
showed
negative
relationships
hypothyroidism,
toxic
single
nodules
in
thyrotoxicosis,
hyperthyroidism/toxicity.
there
was
positive
relationship
anxiety
hypothyroidism.
of
reverse
estimates
revealed
autoimmune
thyroiditis,
recurrent
or
chronic
depression.
hyperthyroidism/toxicity
bipolar
disorder.
Conclusion
This
study
preliminarily
reveals
complex,
disorders,
particularly
highlighting
role
dysfunction
development
certain
vice
versa.
Clinical Cosmetic and Investigational Dermatology,
Год журнала:
2025,
Номер
Volume 18, С. 303 - 310
Опубликована: Янв. 1, 2025
Malignant
melanoma
(MM)
is
an
extremely
aggressive
type
of
skin
cancer
that
represents
a
major
risk
to
human
health.
Earlier
observational
research
has
indicated
microbiota
could
play
role
in
the
development
and
advancement
MM.
Nevertheless,
causal
link
between
MM
still
unclear.
Utilizing
data
from
genome-wide
association
studies
(GWAS)
conducted
on
European
cohort,
we
applied
Mendelian
randomization
(MR)
evaluate
The
analysis
involved
various
MR
methodologies,
including
inverse
variance
weighting
(IVW),
MR-Egger
regression,
weighted
median,
mode
simple
mode.
Furthermore,
performed
sensitivity
employing
intercept
test
MR-Egger,
Cochran's
Q
test,
MR-PRESSO
approach,
leave-one-out
method.
By
conducting
KORA
FF4
identified
several
microbiotas
(ASV003
[Staphylococcus
(unc).],
ASV016
[Enhydrobacter
ASV021
[Micrococcus
(unc).])
related
with
elevated
Conversely,
genus:
Finegoldia
class:
Alphaproteobacteria
were
shown
inhibit
occurrence
Additionally,
PopGen
cohort
revealed
(unc).]
family:
Moraxellaceae
as
possible
factors
for
Our
offers
new
insights
into
connection
MM,
indicating
might
affect
onset
Therefore,
focusing
be
valuable
strategy
prevention,
identification,
management
Journal of Pediatric Endocrinology and Metabolism,
Год журнала:
2025,
Номер
unknown
Опубликована: Янв. 29, 2025
Abstract
Objectives
Childhood
obesity
is
thought
to
influence
pubertal
development,
according
observational
studies.
However,
the
exact
causal
relationship
remains
unclear
due
complexity
of
factors
affecting
development.
Methods
To
explore
association
between
exposure
(childhood
obesity)
and
outcome
(delayed
puberty,
height),
we
utilized
various
methods,
including
inverse-variance
weighted
(IVW),
median,
mode,
MR
Egger
regression.
Additionally,
sensitivity
analyses
were
conducted
using
MR-Egger,
MR-PRESSO,
Cochran’s
Q,
leave-one-out
techniques
ensure
robustness
results.
reverse
analysis
was
potential
causation.
Results
The
IVW
revealed
no
significant
genetic
link
childhood
delayed
puberty
or
height
(all
P>0.05).
In
analysis,
had
a
with
(OR=0.85,
95
%
CI=0.76–0.96).
Q
test
highlighted
heterogeneity
in
results
concerning
(p<0.05).
But
MR-Egger
intercept
MR-PRESSO
confirmed
impact
pleiotropic
bias,
supported
by
analysis.
Conclusions
Our
study
found
height.
causally
associated
obesity.
Future
research
should
utilize
advanced
analytical
methods
better
understand
determinants
Tobacco Induced Diseases,
Год журнала:
2025,
Номер
23(January), С. 1 - 7
Опубликована: Янв. 30, 2025
It
is
currently
uncertain
whether
smoking
a
risk
factor
for
carpal
tunnel
syndrome
(CTS).
This
study
aims
to
elucidate
association
between
and
CTS
using
Mendelian
randomization
(MR)
analysis.
was
secondary
analysis
of
publicly
available
GWAS
data,
four
phenotypes
(smoking
initiation,
status,
lifetime
smoking,
never
smoking)
as
exposures,
two
datasets
(discovery
validation
sets)
outcomes
MR
The
discovery
set
(n=480201)
used
explore
the
causal
relationship
CTS,
while
(n=385304)
confirm
results.
effects
on
were
assessed
inverse
variance
weighted
(IVW),
MR-Egger,
median
methods.
Cochran's
Q
test
detect
heterogeneity,
MREgger
pleiotropy.
Finally,
meta-analysis
performed
IVW
results
from
both
sets.
showed
that
in
sets,
are
factors
CTS.
summary
follows:
initiation
(OR=1.17;
95%
CI:
1.08-1.27,
p<0.001),
status
(OR=1.87;
1.56-2.24,
(OR=2.46;
2.03-3.00,
p<0.001).
Conversely,
protective
against
with
result
being:
OR=0.55;
0.42-0.71,
p<0.001.
Based
genetic
evidence,
may
be
Further
clinical
trials
needed
this
relationship.
With
the
development
of
economy,
number
obese
patients
has
been
increasing
annually
worldwide.
The
proportion
asthma
associated
with
obesity
is
also
gradually
rising.
However,
pathogenesis
obesity-related
remains
incompletely
understood,
and
conventional
pharmacological
treatments
generally
show
limited
efficacy.
This
study
aims
to
explore
causal
relationship
between
allergic
asthma,
elucidate
identify
plasma
proteins
involved
in
its
development,
providing
new
insights
for
clinical
interventions.
In
this
study,
we
employed
a
two-step
approach
mediation
Mendelian
randomization
(MR)
analysis,
utilizing
stringent
selection
criteria
instrumental
variables
(IVs).
was
used
assess
impact
on
validate
identified
as
mediating
factors.
We
further
explored
functions
enriched
pathways
using
Gene
Ontology
(GO)
Kyoto
Encyclopedia
Genes
Genomes
(KEGG)
analyses.
Finally,
conducted
drug-targeted
MR
analysis
evaluate
potential
each
mediator
drug
target
gene.
If
significant
heterogeneity
remained
among
IVs,
applied
weighted
median
method
primary
analytical
tool.
Otherwise,
utilized
inverse
variance
(IVW)
main
approach.
Additionally,
various
sensitivity
analyses
statistical
tests
illustrate
robustness
observed
associations.
research
findings
indicate
asthma.
Plasma
such
TPST1,
ROR1,
DAPK1
mediate
relationship,
TPST1
accounting
over
10%
effect.
GO
KEGG
that
genes
corresponding
these
are
primarily
related
responses
stimuli,
carbohydrate
synthesis
metabolism,
regulation
certain
protein
activities,
synaptic
connections.
suggests
SIGLEC12,
BOLA1,
HOMER2,
all
have
be
genes.
defined
by
BMI
may
promote
influencing
expression
DAPK1.
Furthermore,
some
proteins,
including
could
potentially
serve
therapeutic
targets
treating
patients.
needed
their
mechanisms
underlying
effects.
Not
applicable.
Psychological Medicine,
Год журнала:
2025,
Номер
55
Опубликована: Янв. 1, 2025
Abstract
Background
Dissecting
the
exposome
linked
to
mental
health
outcomes
can
help
identify
potentially
modifiable
targets
improve
well-being.
However,
multiplicity
of
exposures
and
complexity
phenotypes
pose
a
challenge
that
requires
data-driven
approaches.
Methods
Guided
by
our
previous
systematic
approach,
we
conducted
hypothesis-free
exposome-wide
analyses
factors
associated
with
7
psychiatric
diagnostic
domains
19
symptom
dimensions
in
157,298
participants
from
UK
Biobank
Mental
Health
Survey.
After
quality
control,
294
environmental,
lifestyle,
behavioral,
economic
variables
were
included.
An
Exposome-Wide
Association
Study
was
per
outcome
two
equally
split
datasets.
Variables
each
then
tested
multivariable
model.
Results
Across
all
dimensions,
top
three
childhood
adversities
traumatic
events.
Cannabis
use
common
disorders
(depressive,
anxiety,
psychotic,
bipolar
manic
disorders),
ORs
ranging
1.10
1.79
models.
Additionally,
differential
associations
identified
between
specific
outcomes—such
as
neurodevelopmental
disorders,
eating
self-harm
behaviors—and
exposures,
including
early
life
experiences
(being
adopted),
lifestyle
(time
spent
using
computers),
dietary
habits
(vegetarian
diet).
Conclusions
This
comprehensive
mapping
revealed
several
factors,
particularly
those
previously
well-studied
shared
across
phenotypes,
providing
further
support
for
transdiagnostic
pathoetiology.
Our
findings
also
showed
distinct
relations
might
exist.
Continued
research
through
multimodal
mechanistic
studies
guided
framework
is
required
better
inform
public
policies.
International Journal of Molecular Sciences,
Год журнала:
2025,
Номер
26(4), С. 1652 - 1652
Опубликована: Фев. 14, 2025
Selenoprotein
S
(SELENOS),
one
of
the
carrier
proteins
dietary
selenium
(Se),
is
a
key
regulator
inflammation,
oxidative
stress,
and
endoplasmic
reticulum
(ER)
all
which
are
implicated
in
pathogenesis
stroke.
However,
causality
between
SELENOS
stroke
risk
remains
poorly
understood.
This
study
aimed
to
explore
association
genetically
determined
plasma
levels
all-cause
stroke,
ischemic
intracerebral
hemorrhage
(ICH)
using
two-sample
Mendelian
randomization
(MR)
approach.
We
analyzed
data
from
three
large-scale
Genome-Wide
Association
Study
(GWAS)
meta-analyses
individuals
European
descent.
The
fixed-effect
inverse-variance
weighted
(IVW)
model
analysis
revealed
that
elevated
were
associated
with
an
increased
ICH.
Sensitivity
analyses
showed
no
evidence
pleiotropy
or
heterogeneity,
leave-one-out
confirmed
robustness
our
results.
Here,
we
show
causally
linked
risk.
Although
effect
sizes
modest,
these
findings
suggest
may
play
role
pathogenesis,
emphasizing
need
for
further
mechanistic
functional
studies.
Finally,
shed
light
on
importance
tailored
Se
intake
management
context
prevention.
Medicine,
Год журнала:
2025,
Номер
104(7), С. e41388 - e41388
Опубликована: Фев. 14, 2025
Spondyloarthritis
(SpA)
encompasses
a
group
of
inflammatory
joint
disorders
affecting
the
spine
and
joints,
including
ankylosing
spondylitis
nonradiographic
axial
SpA,
exhibiting
diverse
extra-articular
manifestations.
Genetic
factors,
beyond
human
leukocyte
antigen
B27,
play
significant
role
in
SpA
development.
Leveraging
advanced
statistical
methods,
this
study
explores
bidirectional
Mendelian
randomization
(MR)
Bayesian
colocalization
to
unravel
genetic
links
between
its
Positive
MR
analysis
indicates
causal
relationships
various
conditions.
Leave-one-out
suggests
that
these
effects
are
not
driven
by
individual
single-nucleotide
polymorphisms.
In
reverse
MR,
potential
explored,
revealing
uveitis,
bowel
disease,
ulcerative
colitis
as
candidates.
Colocalization
analysis,
unfortunately,
does
identify
shared
foundations.
conclusion,
seronegative
spinal
arthritis
may
lead
myocarditis,
atrioventricular
block,
bronchiectasis,
Crohn
coccygeal
plexus
syndrome,
while
there
is
2-way
relationship
with
colitis.