Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants
Science,
Год журнала:
2025,
Номер
387(6734)
Опубликована: Фев. 6, 2025
Kidney
dysfunction
is
a
major
cause
of
mortality,
but
its
genetic
architecture
remains
elusive.
In
this
study,
we
conducted
multiancestry
genome-wide
association
study
in
2.2
million
individuals
and
identified
1026
(97
previously
unknown)
independent
loci.
Ancestry-specific
analysis
indicated
an
attenuation
newly
signals
on
common
variants
European
ancestry
populations
the
power
population
diversity
for
further
discoveries.
We
defined
genotype
effects
allele-specific
gene
expression
regulatory
circuitries
more
than
700
human
kidneys
237,000
cells.
found
1363
coding
disrupting
782
genes,
with
601
genes
also
targeted
by
convergence
161
genes.
Integrating
32
types
information,
present
“Kidney
Disease
Genetic
Scorecard”
prioritizing
potentially
causal
cell
types,
druggable
targets
kidney
disease.
Язык: Английский
Genetic Insights into Blood Pressure From Kidney Multi-Omics
American Journal of Kidney Diseases,
Год журнала:
2024,
Номер
84(6), С. 787 - 790
Опубликована: Июль 9, 2024
Язык: Английский
Exploring novel therapeutic opportunities for hypertension: a paradigm-shifting approach via integrative multiomic analysis, pioneering the path to precision medicine
Journal of Hypertension,
Год журнала:
2024,
Номер
42(7), С. 1147 - 1149
Опубликована: Май 30, 2024
aDivision
of
Cardiovascular
Sciences,
Faculty
Biology,
Medicine
and
Health,
The
University
Manchester
bDivision
Academic
Health
Science
Centre,
NHS
Foundation
Trust
cWellcome
Centre
for
Cell-Matrix
Research,
Division
Biology
Regenerative
Medicine,
School
Biological
Manchester,
UK
Correspondence
to
Sushant
Saluja,
Medicine:
United
Kingdom.
E-mail:
[email
protected]
Язык: Английский
scTWAS Atlas: an integrative knowledgebase of single-cell transcriptome-wide association studies
Nucleic Acids Research,
Год журнала:
2024,
Номер
53(D1), С. D1195 - D1204
Опубликована: Окт. 18, 2024
Single-cell
transcriptome-wide
association
studies
(scTWAS)
is
a
new
method
for
conducting
TWAS
analysis
at
the
cellular
level
to
identify
gene-trait
associations
with
higher
precision.
This
approach
helps
overcome
challenge
of
interpreting
cell-type
heterogeneity
in
traditional
results.
As
field
scTWAS
rapidly
advances,
there
growing
need
additional
database
platforms
integrate
this
wealth
data
and
knowledge
effectively.
To
address
gap,
we
present
Atlas
(https://ngdc.cncb.ac.cn/sctwas/),
comprehensive
information
integrating
literature
curation
analysis.
The
current
version
amasses
2,765,211
encompassing
34
traits,
30
cell
types,
9
conditions
16,470
genes.
features
visualization
tools,
including
an
interactive
graph
that
integrates
single-cell
expression
quantitative
trait
loci
(sc-eQTL)
build
multi-omics
regulatory
network
level.
Additionally,
facilitates
cross-cell-type
analysis,
highlighting
cell-type-specific
shared
designed
user-friendly
interfaces
allows
easy
browsing,
searching,
downloading
relevant
information.
Overall,
instrumental
exploring
genetic
mechanisms
shedding
light
on
role
various
types
biological
processes,
offering
novel
insights
human
health
research.
Язык: Английский
Omics Studies in CKD: Diagnostic Opportunities and Therapeutic Potential
PROTEOMICS,
Год журнала:
2024,
Номер
unknown
Опубликована: Ноя. 11, 2024
Omics
technologies
have
significantly
advanced
the
prediction
and
therapeutic
approaches
for
chronic
kidney
disease
(CKD)
by
providing
comprehensive
molecular
insights.
This
is
a
review
of
current
state
future
prospects
integrating
biomarkers
into
clinical
practice
CKD,
aiming
to
improve
patient
outcomes
targeted
interventions.
In
fact,
integration
genomic,
transcriptomic,
proteomic,
metabolomic
data
has
enhanced
our
understanding
CKD
pathogenesis
identified
novel
an
early
diagnosis
treatment.
Advanced
computational
methods
artificial
intelligence
(AI)
further
refined
multi-omics
analysis,
leading
more
accurate
models
progression
responses.
These
developments
highlight
potential
care
with
precise
individualized
treatment
plan
.
Язык: Английский
Epigenetics of Hypertensive Nephropathy
Biomedicines,
Год журнала:
2024,
Номер
12(11), С. 2622 - 2622
Опубликована: Ноя. 16, 2024
Hypertensive
nephropathy
(HN)
is
a
leading
cause
of
chronic
kidney
disease
(CKD)
and
end-stage
renal
(ESRD),
contributing
to
significant
morbidity,
mortality,
rising
healthcare
costs.
In
this
review
article,
we
explore
the
role
epigenetic
mechanisms
in
HN
progression
their
potential
therapeutic
implications.
We
begin
by
examining
key
modifications-DNA
methylation,
histone
modifications,
non-coding
RNAs-observed
disease.
Next,
discuss
underlying
pathophysiology
highlight
current
vitro
vivo
models
used
study
condition.
Finally,
compare
various
types
HN-induced
injury
associated
with
those
observed
other
models,
drawing
inferences
on
therapies
for
HN.
The
information
gathered
work
indicate
that
can
drive
regulating
molecular
signaling
pathways
involved
damage
fibrosis.
limitations
Renin-Angiotensin-Aldosterone
System
(RAAS)
inhibitors
underscore
need
alternative
treatments
targeting
pathways.
This
emphasizes
importance
further
research
into
regulation
develop
more
effective
preventive
strategies.
Identifying
novel
markers
could
provide
new
opportunities
managing
CKD
reducing
burden
ESRD.
Язык: Английский