The Medical Journal of Australia,
Год журнала:
2024,
Номер
221(9), С. 501 - 501
Опубликована: Окт. 8, 2024
To
the
Editor:
We
read
with
interest
review
by
Gray
and
colleagues
on
genetic
testing
in
cardiovascular
disease,
particular
familial
hypercholesterolaemia.1
As
they
highlight,
hypercholesterolaemia
is
common
when
undetected
untreated,
leads
to
premature
coronary
artery
disease
(CAD).
There
are
more
than
100
000
individuals
Australia,
20
of
them
children
under
16
years,
an
additional
three
born
every
day.2
Similar
other
countries,
95%
across
Australia
currently
undiagnosed,
a
trajectory
develop
CAD.3
Genetic
should
be
offered
confirm
diagnosis
probable
hypercholesterolaemia.
Currently,
childhood
usually
follows
cascade
screening
after
detection
parent
However,
several
opportunities
detect
have
been
proposed,
including
child–parent
at
time
immunisation.5
Universal
genomic
newborn
screening,
combined
reverse
parents,
great
potential
for
improving
outcomes
both
adults
Once
has
made
child,
management
relatively
straightforward,
education
healthy
lifestyle
initiation
lipid
lowering
therapy
age
8
10
years
heterozygous
hypercholesterolaemia,
achieve
LDL-cholesterol
level
less
3.5
mmol/L
(95th
percentile)
or
40–50%
reduction.
Treatment
homozygous
ideally
started
2
5
years.
"Prevention
better
cure".
It
that
we
redefine
as
treatable
paediatric
disorder,
transforming
perspectives
our
adult
so
together
can
change
natural
history
this
condition
from
childhood,
thus
avoiding
development
CAD
national
level.
No
relevant
disclosures.
Medicina,
Год журнала:
2025,
Номер
61(1), С. 83 - 83
Опубликована: Янв. 7, 2025
Metabolic
syndrome
is
a
metabolic
disorder
characterized
by
hypertension,
dyslipidemia,
impaired
glucose
tolerance,
and
abdominal
obesity.
Impaired
insulin
action
or
resistance
initiates
syndrome.
The
prevalence
of
increasing
all
over
the
world.
Insulin
results
in
defective
metabolism
carbohydrates
lipids,
addition
to
low-grade
chronic
inflammation.
associated
with
syndrome,
which
risk
factor
for
number
pathological
conditions,
such
as
Type
2
diabetes
(T2D),
cardiovascular
disease
(CVD),
nonalcoholic
fatty
liver
(NAFLD),
polycystic
ovarian
(PCOS).
Genome-wide
association
studies
have
increased
our
understanding
many
loci
linked
these
diseases
others.
In
this
review,
we
discuss
its
contribution
diseases.
We
also
genetic
them.
Genetic
testing
invaluable
identification
stratification
susceptible
populations
and/or
individuals.
After
individuals
been
identified
via
screening,
lifestyle
modifications
regular
exercise,
weight
loss,
healthy
diet,
smoking
cessation
can
reduce
prevent
pathologies.
European Journal of Human Genetics,
Год журнала:
2025,
Номер
unknown
Опубликована: Фев. 27, 2025
Abstract
With
increasing
availability
of
genetic
tests,
it
is
important
to
consider
differences
in
testing
patterns
between
population
subgroups.
We
examined
self-reported
among
45,061
participants
the
Australian
population-based
45
and
Up
Study,
for
associations
with
sociodemographic
health
characteristics
(multivariable
logistic
regression).
9.2%
reported
ever
having
testing;
3.9%
disease-related
testing,
5.2%
non-disease-related
0.7%
both
testing.
Disease-related
was
strongly
associated
younger
age,
female
sex,
history
cancers
cardiovascular
disease,
cancer
family
history.
also
higher
education
(university
versus
school
certificate:
adjusted
OR
[aOR]
=
1.50
[95%CI:1.29–1.75];
certificate/diploma
aOR
1.40
[95%CI:1.20–1.63]);
there
suggestive
evidence
association
household
income
($AUD90,000+
<$AUD30,000:
1.22
[95%CI:1.02–1.46]),
which
strengthened
when
not
adjusting
(aOR
1.34
[95%CI:1.13–1.60]).
These
results
suggest
further
work
on
ensuring
equitable
access
needed
prevent
potential
inequities.
Journal of Saudi Chemical Society,
Год журнала:
2024,
Номер
28(4), С. 101898 - 101898
Опубликована: Июнь 27, 2024
To
accurately
diagnose
and
evaluate
the
degree
of
myocardial
injury
predict
infarction
disease,
rapid
sensitive
detection
cardiac
troponin
I
(cTnI)
is
required.
Therefore,
a
label-less
electrochemical
aptasensor
was
prepared
for
cTnI
determination.
Ionic
liquid
1-hydroxyethy
l-3-
methyl
imidazole
four
fluorine
boric
acid
salt
(IL)-reduced
graphene
oxide
−
ethylene
oxidation
reduction
five
amine
(rGO-TEPA)/silica
(SiO2)-
gold
platinum
(AuPt)
(IL-rGO-TEPA/SiO2-AuPt)
nanocomposites
were
synthetized
as
substrate
nanocomposite
characterized
using
series
characterization
methods.
The
performance
through
Result
displayed
that
better
materials
synthesized,
showed
excellent
performance.
Under
optimal
conditions,
had
salient
analytical
signals
linearly
decreased
with
logarithm
concentration
between
0.5
pg·mL−1
1
×
106
range
(R2
value
=
0.9955)
wide
(0.5
∼
pg·mL−1)
low
limit
0.4
pg·mL−1.
At
same
time,
good
selectivity,
repeatability
stability.
Relative
standard
deviation
(RSD)
values
ranged
from
3.45
%
4.97
recovery
rate
97.5
103
in
human
serum
samples,
RSD
spiked
ELISA
method
less
than
5
%.
This
study
provides
new
theoretical
basis
clinical
cTnI.
Cardiogenetics,
Год журнала:
2024,
Номер
14(3), С. 149 - 169
Опубликована: Сен. 2, 2024
Over
the
past
three
decades,
significant
progress
has
been
made
in
elucidating
intricate
connection
between
genetic
predispositions
and
cardiovascular
diseases
(CVDs).
Through
extensive
investigation,
numerous
variants
linked
to
various
conditions
have
discovered,
shedding
crucial
light
on
underlying
biological
mechanisms
pathways.
These
discoveries
not
only
revolutionized
risk
assessment
for
patients
but
also
paved
way
personalized
treatment
strategies,
allowing
healthcare
providers
tailor
interventions
according
individual
profiles.
Furthermore,
testing
facilitated
cascade
screening,
enabling
early
identification
intervention
of
potential
issues
among
at-risk
family
members.
This
review
aims
comprehensively
summarize
current
state
knowledge
regarding
inherited
novel
insights
from
human
genome
epigenome
research,
as
well
therapeutic
opportunities
CVDs
with
special
emphasis
cardiomyopathies
arrhythmic
syndromes.
The
newest
translational
trials
pharmaceutical
approaches
are
discussed,
including
gene
therapy
options
heart
failure
cardiomyopathies.
International Journal of Molecular Sciences,
Год журнала:
2024,
Номер
25(18), С. 9787 - 9787
Опубликована: Сен. 10, 2024
Hereditary
cardiomyopathies
(CMPs),
including
arrhythmogenic
cardiomyopathy
(ACM),
dilated
(DCM),
and
hypertrophic
(HCM),
represent
a
group
of
heart
disorders
that
significantly
contribute
to
cardiovascular
morbidity
mortality
are
often
driven
by
genetic
factors.
Recent
advances
in
next-generation
sequencing
(NGS)
technology
have
enabled
the
identification
rare
variants
both
well-established
minor
genes
associated
with
CMPs.
Nowadays,
set
core
is
included
diagnostic
panels
for
ACM,
DCM,
HCM.
On
other
hand,
despite
their
lesser-known
status,
may
disease
mechanisms
influence
prognosis.
This
review
evaluates
current
evidence
supporting
involvement
CMPs,
considering
potential
pathogenicity
clinical
significance.
A
comprehensive
analysis
databases,
such
as
ClinGen,
ClinVar,
GeneReviews,
along
recent
literature
guidelines
provides
thorough
overview
landscape
CMPs
offers
guidance
practice,
evaluating
each
case
individually
based
on
referral,
insights
future
research.
Given
increasing
knowledge
these
less
understood
factors,
studies
essential
clearly
assess
roles,
ultimately
leading
improved
precision
therapeutic
strategies
hereditary
The Medical Journal of Australia,
Год журнала:
2024,
Номер
221(9), С. 501 - 502
Опубликована: Окт. 8, 2024
In
reply:
We
thank
Martin
and
colleagues1
for
their
critical
appraisal
of
our
review
on
genetic
testing
in
cardiovascular
disease,
published
the
MJA.2
agree
that
utility
needs
to
consider
burden
age
onset,
treatment
options
available
individuals
identified
with
causal
variant.
also
concur
colleagues
regarding
value
early
detection
familial
hypercholesterolaemia.2
particularly
appreciate
emphasis
hypercholesterolaemia
being
a
disorder
frequently
paediatric
patients,
proposed
clinical
pathway
prevention
atherosclerosis
myocardial
infarction,
consideration
lipid-lowering
after
maximal
lifestyle
interventions
from
six
those
homozygosity.3
general
population,
current
expert
consensus
guidelines
continue
recommend
as
confirmatory
tool
following
identification
using
tools
such
Simon
Broome
Diagnostic
Criteria
or
Dutch
Lipid
Clinic
Network
Score.3,
4
However,
hypercholesterolaemia-associated
variant
an
individual
justifies
further
cascade
first-,
second-,
even
third-degree
biological
relatives
earlier
diagnosis
intervention.5,
6
As
many
conditions
highlighted
article,
role
continues
evolve
improved
understanding
disease
architecture,
experience
incorporating
genomic
testing,
access
sequencing
technologies.
Health
economics,
guideline
development,
policy
changes
will
be
key
maximising
all
tests
space.
MPG
reports
no
relevant
financial
conflicts
interest.
GAF
grants
National
Medical
Research
Council
(Australia),
Abbott
Diagnostic,
Sanofi,
Janssen
Pharmaceuticals,
NSW
Health.
honorarium
CSL,
CPC
Clinical
Research,
Boehringer-Ingelheim,
Heart
Foundation,
Diagnostic.
serves
board
director
Australian
Cardiovascular
Alliance
(past
president),
executive
committee
member
founding
CMO
Prokardia
Kardiomics,
CAD
Frontiers
A2D2
Consortium.
addition,
non-profit,
Frontiers,
industry
partners
including
Novartis,
Amgen,
Siemens
Healthineers,
ELUCID,
Foresite
Labs
LLC,
HeartFlow,
Canon,
Cleerly,
Caristo,
Genetech,
Artyra,
Bitterroot
Bio
Allelica.
has
patents:
"Patent
Biomarkers
Oxidative
Stress"
awarded
USA
May
2017
(US9638699B2)
issued
Northern
Sydney
Local
District,
"Use
P2X7R
antagonists
disease"
PCT/AU2018/050905
licensed
Prokardia,
"Methods
vascular
PCT/AU2015/000548
University
Sydney/Northern
"Wound
healing
methods"
PCT/AU2022/050129
Sydney,
compositions"
PCT/AU2022/050130
predicting
coronary
artery
AU202290266
patent
"Novel
P2X7
Receptor
Antagonists"
PCT/AU2022/051400
(23.11.2022),
International
App
No:
WO/2023/092175
(01.06.2023),
Sydney.
Background:
Nonischaemic
cardiomyopathy
(NISCM)
poses
significant
challenges
in
clinical
management
due
to
its
complex
etiology
and
limited
therapeutic
targets.
Recent
advancements
genomics
proteomics
have
enabled
the
identification
of
novel
drug
targets
for
NISCM.Methods:
Utilizing
public
databases,
we
extracted
data
on
circulating
plasma
protein
levels
associated
genetic
variants.
We
analyzed
single
nucleotide
polymorphisms
linked
NISCM
using
FinnGen
R10
database.
Mendelian
randomization
was
employed
estimate
risk
associations
between
NISCM,
supplemented
by
protein-protein
interaction
analysis.
Bayesian
analysis
facilitated
with
strong
colocalization
evidence,
leading
discovery
potential
drugs
via
molecular
docking.Findings:
discovered
16
proteins
related
including
critical
immune-inflammatory
pathways
such
as
C5,
F7,
BTD,
SAA1,
SAA2.
identified
LILRA5
NELL1
having
strongest
evidence
colocalization.
These
demonstrated
stable
binding
atenolol
naringenin,
respectively,
positioning
them
high-potential
targets.Interpretation:
Our
results
highlight
effectiveness
integrating
proteomic
identify
new
NISCM.
are
particularly
promising
candidates
further
development.Funding:
Hainan
Key
Research
Development
Project
(ZDYF2020122,
ZDYF2022SHFZ038),
National
Natural
Science
Foundation
China
(82060053,
82260083,
U220A20270),
Cardiovascular
Disease
Innovation
Group
Medical
University,
Innovative
Projects
Graduate
Students
Province
(Qhyb2022-140).Declaration
Interest:
The
authors
declare
no
competing
interests.Ethical
Approval:
All
analyses
use
data,
ethical
consent
approval
obtained
original
studies;
thus,
additional
or
informed
required
this
study.
Research Square (Research Square),
Год журнала:
2024,
Номер
unknown
Опубликована: Июль 4, 2024
Abstract
Background
Nonischemic
cardiomyopathy
(NISCM)
is
a
clinical
challenge
with
limited
therapeutic
targets.
This
study
aims
to
identify
promising
drug
targets
for
NISCM.
Methods
We
utilized
cis-pQTLs
from
public
databases
and
SNPs
the
Finnish
database.
Mendelian
randomization
(MR)
analysis
was
performed
estimate
causal
relationship
between
circulating
plasma
protein
levels
NISCM
risk.
Proteins
significant
associations
underwent
false
discovery
rate
(FDR)
correction,
followed
by
Bayesian
colocalization
analysis.
The
expression
of
top
two
proteins,
LILRA5
NELL1,
further
analyzed
using
various
datasets.
Descriptions
Human
Protein
Atlas
(HPA)
validated
expression.
impact
environmental
exposures
on
assessed
Comparative
Toxicogenomics
Database
(CTD),
molecular
docking
identified
potential
small
molecule
interactions.
Results
MR
255
proteins
associated
NISCM,
16
remaining
after
FDR
correction.
NELL1
as
significant,
PP.H4
>
0.8.
has
protective
effect
(OR
=
0.758,
95%
CI,
0.670–0.857)
while
NELL
displays
risk
1.290,
CI,1.199–1.387)
in
Decreased
found
such
diabetic,
hypertrophic,
dilated,
inflammatory
cardiomyopathy,
increased
hypertrophic
cardiomyopathy.
HPA
data
indicated
high
neutrophils
within
normal
heart
Immune
infiltration
revealed
decreased
neutrophil
diabetic
CTD
sets
molecules
affecting
expression,
parts
could
stably
bind
LILRA5.
Conclusion
are
key
showing
particularly
prospects
Several
interact
LILRA5,
implying
implication.
Frontiers in Genetics,
Год журнала:
2024,
Номер
15
Опубликована: Сен. 11, 2024
Previous
studies
have
investigated
the
association
between
haptoglobin
rs72294371
polymorphism
and
coronary
artery
disease
(CAD)
risk,
but
results
are
controversial
uncertain.
Therefore,
this
study
aimed
to
systematically
review
literature
on
susceptibility
CAD.