medRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2024,
Volume and Issue:
unknown
Published: April 16, 2024
Abstract
Blood
cell
phenotypes
are
routinely
tested
in
healthcare
to
inform
clinical
decisions.
Genetic
variants
influencing
mean
blood
have
been
used
understand
disease
aetiology
and
improve
prediction;
however,
additional
information
may
be
captured
by
genetic
effects
on
observed
variance.
Here,
we
mapped
variance
quantitative
trait
loci
(vQTL),
i.e.
associated
with
variance,
for
29
from
the
UK
Biobank
(N∼408,111).
We
discovered
176
independent
vQTLs,
of
which
147
were
not
found
additive
QTL
mapping.
vQTLs
displayed
average
1.8-fold
stronger
negative
selection
than
QTL,
highlighting
that
acts
reduce
extreme
phenotypes.
Variance
polygenic
scores
(vPGSs)
constructed
stratify
individuals
INTERVAL
cohort
(N∼40,466),
where
genetically
less
variable
(low
vPGS)
had
increased
conventional
PGS
accuracy
(by
∼19%)
more
individuals.
prediction
traits
improved
∼10%
combining
vPGS.
Using
Mendelian
randomisation
vPGS
association
analyses,
alcohol
consumption
significantly
variances
utility
vPGSs
provide
novel
insight
into
phenotype
as
well
prediction.
medRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2024,
Volume and Issue:
unknown
Published: May 31, 2024
Abstract
Polygenic
scores
(PGS)
have
transformed
human
genetic
research
and
multiple
potential
clinical
applications,
including
risk
stratification
for
disease
prevention
prediction
of
treatment
response.
Here,
we
present
a
series
recent
enhancements
to
the
PGS
Catalog
(
www.PGSCatalog.org
),
largest
findable,
accessible,
interoperable,
reusable
(FAIR)
repository
PGS.
These
include
expansions
in
data
content
ancestral
diversity
as
well
addition
new
features.
We
further
Calculator
pgsc_calc
,
https://github.com/PGScatalog/pgsc_calc
an
open-source,
scalable
portable
pipeline
reproducibly
calculate
that
securely
democratizes
equitable
applications
by
implementing
ancestry
estimation
score
normalization
using
reference
data.
With
&
calculator
users
can
now
quantify
individual’s
predisposition
hundreds
common
diseases
clinically
relevant
traits.
Taken
together,
these
updates
tools
facilitate
next
generation
PGS,
thus
lowering
barriers
studies
necessary
identify
where
may
be
integrated
into
practice.
Nucleic Acids Research,
Journal Year:
2024,
Volume and Issue:
53(D1), P. D998 - D1005
Published: Nov. 12, 2024
The
NHGRI-EBI
GWAS
Catalog
serves
as
a
vital
resource
for
the
genetic
research
community,
providing
access
to
most
comprehensive
database
of
human
results.
Currently,
it
contains
close
7
000
publications
>15
traits,
from
which
more
than
625
lead
associations
have
been
curated.
Additionally,
85
full
genome-wide
summary
statistics
datasets-containing
association
data
all
variants
in
analysis-are
available
downstream
analyses
such
meta-analysis,
fine-mapping,
Mendelian
randomisation
or
development
polygenic
risk
scores.
As
centralised
repository
results,
sets
and
implements
standards
submission
harmonisation,
encourages
use
consistent
descriptors
samples
methodologies.
We
share
processes
vocabulary
with
PGS
Catalog,
improving
interoperability
growing
user
group.
Here,
we
describe
latest
changes
content,
improvements
our
interface,
implementation
GWAS-SSF
standard
format
statistics.
address
challenges
handling
rapid
increase
large-scale
molecular
quantitative
trait
need
sensitivity
population
cohort
while
maintaining
reusability.
International Journal of Frontiers in Life Science Research,
Journal Year:
2024,
Volume and Issue:
6(1), P. 022 - 035
Published: March 26, 2024
This
paper
explores
the
integration
of
IoT
devices,
data
analytics,
and
education
techniques
to
enhance
pediatric
dental
health
outcomes.
By
leveraging
real-time
collection,
analysis,
personalized
interventions,
can
empower
both
caregivers
children
adopt
proactive
hygiene
practices.
comprehensive
approach
not
only
improves
oral
but
also
establishes
lifelong
habits
for
overall
wellness.
Pediatric
is
a
vital
often
overlooked
component
well-being.
Despite
its
significance,
it
frequently
lacks
attention
deserves.
Integrating
Internet
Things
(IoT)
technologies
into
care
presents
an
opportunity
substantial
improvement
in
early
prevention
strategies.
enhances
conducive
crucial
determinant
well-being,
yet
remains
overshadowed
by
other
priorities.
Addressing
requires
measures,
including
The
promising
avenue
revolutionize
delves
potential
improving
health.
harnessing
empowers
holistic
fosters
development
Through
examination
integration,
this
underscores
transformative
impact
have
on
health,
emphasizing
importance
prioritizing
innovative
approaches
address
critical
aspect
childhood
Frontiers in Genetics,
Journal Year:
2025,
Volume and Issue:
16
Published: Feb. 4, 2025
Introduction
Polygenic
Scores
(PGSs)
assess
cumulative
genetic
risk
variants
that
contribute
to
the
association
with
complex
diseases
like
Alzheimer’s
Disease
(AD).
The
PGS
Catalog
is
a
valuable
repository
of
PGSs
various
diseases,
but
it
lacks
standardized
annotations
and
harmonization,
making
information
difficult
integrate
for
specific
disease.
Methods
In
this
study,
we
curated
44
datasets
AD
from
Catalog,
categorized
them
into
five
methodological
groups,
annotated
813,257
nearby
genes.
We
aligned
scores
based
on
“GWAS
significant
variants”
(GWAS-SV)
method
GWAS
flagged
redundant
files
those
“limited
scope”
due
insufficient
external
support.
Using
rank
aggregation
(RA),
prioritized
consistently
important
provided
an
R
package,
“PgsRankRnnotatR,”
automate
process.
Results
Of
six
RA
methods
evaluated,
“Dowdall”
was
most
robust.
Our
refined
dataset,
enhanced
by
multiple
options,
resource
researchers
selecting
or
exploring
AD-related
variants.
Discussion
approach
offers
framework
curating,
harmonizing,
prioritizing
datasets,
improving
their
usability
research.
By
integrating
automating
process,
provide
flexible
tool
enhances
selection
variant
exploration.
This
can
be
extended
other
traits,
facilitating
broader
applications
in
assessment.
Pharmacogenomics,
Journal Year:
2025,
Volume and Issue:
unknown, P. 1 - 12
Published: Feb. 28, 2025
Posttransplantation
diabetes
mellitus
(PTDM)
is
a
form
of
developed
after
solid
organ
or
stem
cell
transplantation.
This
condition
shares
physiopathological
traits
with
type
2
diabetes,
including
insulin
resistance
and
β-cells
dysfunction
its
prevalence
varies
significantly
based
on
the
diagnostic
criteria
used.
Immunosuppressive
drugs
directly
contribute
to
PTDM
risk
through
intricate
impacts
glucose
regulation,
secretion,
inflammation.
In
addition,
modifiable
non-modifiable
environmental
factors
are
associated
onset
this
condition.
review
aims
provide
comprehensive
overview
multifactorial
nature
in
order
highlight
candidate
genes
variants
for
pharmacogenetic
research.
An
extensive
literature
search
was
conducted
identify
studies
pharmacological
genetic
influencing
development.
stresses
importance
understanding
these
interactions
improving
management
underscores
need
further
research
refine
preventive
approaches,
ultimately
enhancing
patient
outcomes
post-transplantation.
International Journal of Molecular Sciences,
Journal Year:
2025,
Volume and Issue:
26(5), P. 2337 - 2337
Published: March 6, 2025
Hypercholesterolemia,
characterized
by
elevated
levels
of
low-density
lipoprotein
cholesterol
(LDL-C),
along
with
inflammation,
is
a
well-known
risk
factor
for
developing
atherosclerosis
and
coronary
artery
disease
(CAD).
Many
patients
hypercholesterolemia
may
carry
inherited
genetic
variants
that
are
not
part
the
commonly
recognized
mutations
in
LDLR,
APOB,
LDLRAP1,
PCSK9
genes.
These
have
cumulative
effects
contribute
to
increased
LDL-C
CAD
development.
The
polygenic
score
(PRS)
provide
an
essential
tool
evaluating
individual's
predisposition
these
conditions.
This
pilot
study
aimed
investigate
impact
PRS
calculated
from
specific
single
nucleotide
polymorphisms
(SNPs)
associated
LDL
(LDL-C)-namely,
CELSR2
rs629301,
APOB
rs1367117,
ABCG8
rs6544713,
LDLR
rs6511720,
APOE
rs429358,
rs7412-on
both
healthy
individuals
(>2.6
mmol/L)
those
diagnosed
ST-segment
elevation
myocardial
infarction
(STEMI).
A
total
61
high
93
STEMI
were
selected
study.
High-Resolution
Melting
Polymerase
Chain
Reaction
(HRM
PCR)
method
was
adopted
sequencing
techniques
employed
identify
interest.
patient
group
exhibited
0.824
(with
range
-0.62
1.174)
compared
0.674
(range:
-0.176
0.974)
individuals,
indicating
higher
(p
=
0.001)
patients.
Interestingly,
had
lower
concentrations
than
individuals.
Additionally,
more
significant
number
past
smokers
statin
users.
calculations
revealed
odds
experiencing
MI,
ratio
12.044
(95%
confidence
interval:
1.551-93.517,
p
0.017).
Similarly,
showed
even
odds,
24.962
CI:
7.171-86.890,
<
0.001).
Among
having
concentration
greater
4.9
mmol/L
(odds
ratio:
20.391,
95%
1.116-358.486,
0.039).
However,
no
association
found
between
during
hospitalization
0.782).
shows
can
be
evaluate
MI
estimate
