Balkan Journal of Medical Genetics,
Journal Year:
2024,
Volume and Issue:
27(2), P. 77 - 85
Published: Dec. 1, 2024
The
CYP2C19*2
c.681G>A
(rs4244285)
loss-of-function
(LOF)
allele
has
been
associated
with
reduced
clopidogrel
efficacy
and
increased
risk
of
major
adverse
cardiovascular
events
(MACE).
PGx-guided
treatment,
despite
the
recommendations,
is
not
fully
implemented
in
routine
clinical
practice.
primary
aim
this
hybrid
retrospective-prospective
study
was
to
determine
whether
identifying
CYP2C19
LOF
patients
may
benefit
antiplatelet
drug
prescribing
decisions
made
Kosovo.
cohort
consisted
treated
presenting
at
University
Clinical
Center
period
from
December
2023
May
2024.
To
evaluate
correlation
between
treatment
outcome
a
follow-up
2
years,
we
first
assessed
genotype
using
Taq
Man
Real
Time
PCR
method.
Among
150
patients,
58
(19.33%)
were
identified
as
carriers
allele.
observed
distribution
significantly
different
when
compared
one
reported
for
healthy
Kosovar
population
(13.03%).
exhibited
1.6-fold
higher
probability
developing
disease
non-carriers,
based
on
allelic
codominant
model
statistical
analysis
(OR=1.60;
95%
CI=1.08-2.37;
p=0.018
OR=1.64;
CI=1.04-2.57;
p=0.031,
respectively).
median
observation
time
follow
up
reached
until
conducted.
Our
data
supports
potential
association
an
CVD
add
evidence
advising
careful
consideration
genetic
diversity
recommending
therapy,
particularly
populations,
such
Kosovar,
where
determinants
are
yet
elucidated.
BMC Pregnancy and Childbirth,
Journal Year:
2024,
Volume and Issue:
24(1)
Published: Feb. 26, 2024
Abstract
Background
The
majority
of
congenital
heart
diseases
(CHDs)
are
thought
to
result
from
the
interactions
genetics
and
environment
factors.
This
study
aimed
assess
association
maternal
non-occupational
phthalates
exposure,
metabolic
gene
polymorphisms
their
with
risk
CHDs
in
offspring.
Methods
A
multicenter
case-control
245
mothers
infants
268
control
health
infant
was
conducted
six
hospitals.
Maternal
urinary
concentrations
eight
phthalate
metabolites
were
measured
by
ultra-high
performance
liquid
chromatography
coupled
tandem
mass
spectrometry
(UHPLC-MS/MS).
Twenty
single
nucleotide
(SNPs)
cytochrome
P450
family
2
subfamily
C
member
9
(
CYP2C9
)
19
CYP2C19
),
uridine
diphosphate
(UDP)
glucuronosyl
transferase
1
A7
UGT1A7
B7
UGT2B7
B15(
UGT2B15
genes
genotyped.
multivariate
logistic
regressions
used
estimate
between
exposure
or
CHDs.
Generalized
multifactor
dimensionality
reduction
(GMDR)
analyze
gene–gene
gene–phthalates
interactions.
Results
There
no
significant
difference
cases
controls.
No
positive
associations
observed
SNPs
at
rs4124874
(under
three
models,
log-additive:
aOR
=
1.74,
95%
CI:1.28–2.37;
dominant:
1.86,
CI:1.25–2.78;
recessive:
2.50,
CI:
1.26–4.94)
rs887829
recessive
model:
13.66,
1.54–121)
significantly
associated
an
increased
Furthermore,
log-additive
dominant
models)
statistically
after
false
discovery
rate
correction.
gene-gene
gene-phthalate
observed.
Conclusions
More
large-scale
studies
prospective
designs
needed
confirm
refute
our
findings
future.
BMC Public Health,
Journal Year:
2024,
Volume and Issue:
24(1)
Published: Sept. 4, 2024
People
with
epilepsy
(PWE)
frequently
experience
sleep
disturbances
that
can
severely
affect
their
quality
of
life.
Depression
is
also
a
common
symptom
in
the
PWE
population
and
aggravate
problems.
However,
interplay
between
epilepsy,
depression,
not
yet
fully
understood.
Our
study
was
designed
to
investigate
association
US
adults
determine
whether
depressive
symptoms
play
mediating
role
this
relationship.
International Journal of General Medicine,
Journal Year:
2023,
Volume and Issue:
Volume 16, P. 5139 - 5146
Published: Nov. 1, 2023
Vascular
diseases
such
as
atherosclerosis
usually
affect
multiple
organs.
Genetic
factors
have
a
certain
proportion
in
the
risk
of
atherosclerosis.
The
purpose
was
to
investigate
relationship
cytochrome
P450
2C19
(CYP2C19)
polymorphisms
with
multi-site
atherosclerosis.The
study
included
410
patients
single-site
and
529
between
CYP2C19
rs4244285
rs4986893
analyzed.The
A
allele
(35.9%
vs
29.9%,
P=0.007)
G
(97.7%
94.8%,
P=0.001)
group
significantly
higher
than
that
group.
distribution
genotypes
different
two
groups
(P=0.002).
results
univariate
logistic
regression
indicated
*1/*3
genotype
(*1/*3
*1/*1:
odds
ratio
(OR)
0.456,
95%
confidence
interval
(CI):
0.231-0.902,
P=0.024)
may
decrease
atherosclerosis,
while
*2/*2
(*2/*2
OR
1.780,
CI:
1.100-2.880,
P=0.019)
increase
Multivariate
(adjusted
for
gender,
age,
smoking,
drinking,
hypertension,
diabetes)
0.459,
0.231-0.909,
P=0.026)
be
an
independent
protective
factor
1.767,
1.091-2.864,
P=0.021)
atherosclerosis.CYP2C19
International Journal of General Medicine,
Journal Year:
2024,
Volume and Issue:
Volume 17, P. 5049 - 5058
Published: Nov. 1, 2024
Objective:
Cytochrome
P450
2C19
(CYP2C19)
is
a
major
enzyme
involved
in
the
biotransformation
and
metabolism
of
various
substances.
Loss-of-function
CYP2C19
gene
represents
downregulation
indication
limited
or
no
enzymatic
function,
which
may
be,
turn,
associated
with
some
disease
susceptibility.
The
relationship
between
polymorphisms
susceptibility
to
premature
coronary
artery
(PCAD)
not
fully
understood.
This
study
aimed
assess
this
relationship.
Methods:
included
635
PCAD
patients,
548
age-matched
non-CAD
individuals
as
controls,
from
November
2019
August
2023.
rs4244285
(681G
>
A,
*2)
rs4986893
(636G
*3)
were
genotyped,
distribution
patients
controls
risk
analyzed.
Results:
A
total
442
(37.4%),
543
(45.9%),
198
(16.7%)
had
extensive
metabolizer
(EM)
(*1/*1),
intermediate
(IM)
(*1/*2
*1/*3),
poor
(PM)
(*2/*2,
*2/*3,
*3/*3)
phenotypes,
respectively.
*2/*2
genotype
frequency
was
higher,
*1/*1
lower
than
controls.
Individuals
PM
phenotype
higher
triglyceride
(TG)
levels
those
EM
IM
phenotypes.
Logistic
regression
analysis
showed
that
body
mass
index
(BMI)
≥
24.0
kg/m
2
(≥
vs
18.5–
23.9
,
odds
ratio
(OR):
1.326,
95%
confidence
interval
(CI):
1.041–
1.688,
p
=
0.022),
smoking
(OR:
1.974,
CI:
1.283–
3.306,
0.002),
hypertension
1.327,
1.044–
1.687,
0.021),
diabetes
mellitus
1.390,
1.054–
1.834,
0.020),
(PM
phenotype,
OR:
1.701,
1.200–
2.411,
0.003),
IM+PM
phenotypes
(IM+PM
1.369,
1.077–
1.740,
0.010)
PCAD.
Conclusion:
overweight,
smoking,
hypertension,
Keywords:
disease,
cytochrome
P450,
CYP2C19,
loss-of-function
International Journal of General Medicine,
Journal Year:
2023,
Volume and Issue:
Volume 16, P. 3473 - 3481
Published: Aug. 1, 2023
Cytochrome
P450
2C19
(CYP2C19)
genotypes
and
metabolic
phenotypes
(extensive
metabolizer
(EM),
intermediate
(IM),
poor
(PM))
are
related
to
the
metabolism
of
therapeutic
drugs
for
cardiovascular
cerebrovascular
diseases.
This
study
aimed
investigate
differences
CYP2C19
gene
polymorphism
distribution
between
coronary
artery
disease
(CAD)
patients
cerebral
infarction
(CI)
patients.We
identified
413
CI
patients,
509
CAD
241
CI+CAD
from
2016
2020
studied
rs4986893
(636G>A)
rs4244285
(681G>A)
polymorphisms
using
PCR-gene
chip
detection
method.
Differences
in
groups
were
compared.
To
analyze
efficacy
discriminating
disease,
multiple
logistic
regression
analysis
was
conducted
after
adjusting
gender,
age,
smoking
history,
drinking
hypertension,
diabetes.There
significant
patients.
The
results
multivariate
(adjusted
sex,
smoking,
drinking,
diabetes)
indicated
that
IM
phenotype
(IM
vs
EM:
OR
1.443,
95%
CI:
1.086-1.918,
P=0.011)
IM+PM
or
PM
1.440,
1.100-1.885,
P=0.008)
may
be
indicators
CAD.CYP2C19
EM
dominant
After
other
confounding
factors,
with
more
likely
develop
than
CAD.
Life,
Journal Year:
2023,
Volume and Issue:
13(11), P. 2142 - 2142
Published: Oct. 31, 2023
Coronary
artery
disease
(CAD)
is
the
leading
cause
of
death
and
hospitalization
worldwide
represents
a
problem
for
public
health
systems
everywhere.
In
Saudi
Arabia,
prevalence
CAD
estimated
to
be
5.5%.
Risk
factors
include
older
age,
male
gender,
obesity,
high
blood
pressure,
smoking,
diabetes,
hyperlipidemia,
genetic
factors.
Reducing
risk
in
susceptible
individuals
will
decrease
CAD.
Genome
wide
association
studies
have
helped
reveal
many
loci
with
diseases
like
this
study,
we
examined
link
between
single
nucleotide
variations
(SNVs)
TNF-α-rs1800629
G>A,
CYP2C19*17
(rs12248560)
C>T,
miR-423
rs6505162
C>A
expression
TNF-α
We
used
mutation
specific
PCR,
ARMS-PCR,
ELISA.
The
results
showed
that
A
allele
rs1800629
G>A
SNP
linked
odd
ratio
(OR)
(95%
CI)
=
2.10,
p-value
0.0013.
T
C>T
OR
2.02,
0.003.
addition,
SNV
1.49,
0.036.
ELISA
indicated
serum
levels
are
significantly
increased
patients
compared
healthy
controls.
conclude
CYP2C19*17,
potential
population.
These
findings
require
further
verification
future
studies.
After
being
verified,
our
might
utilized
testing
identify
and,
therefore,
whom
reducing
modifiable
(e.g.,
poor
diet,
smoking)
would
result
prevention
or
delay
BMC Medical Genomics,
Journal Year:
2024,
Volume and Issue:
17(1)
Published: April 26, 2024
Abstract
Objective
To
study
the
distribution
characteristics
of
CYP2C19
polymorphisms
in
patients
suffering
from
stroke
Han
Chinese
patients.
Method
PCR
and
DNA
microarray
chip
technology
were
used
to
detect
genotype
549
with
stroke,
genotype,
allele
frequency
metabolic
type
different
sexes,
ages
types
infarctions
independent
risk
factors
for
clopidogrel
resistance
analyzed.
Results
Six
genotypes
detected
these
A
total
233
(42.44%)
had
heterozygous
*1/*2,
which
was
most
prevalent,
followed
by
homozygous
wild-type
*1/*1
(191,
34.79%).
30
(5.46%)
possessed
*1/*3
,
65
(11.84%)
mutant
*2/*2
.
Twenty-nine
(5.28%)
compound
*2/*3
only
1
patient
*3/*3
The
genotypes,
alleles,
did
not
change
significantly
(
P
>
0.05)
sex,
age,
or
stroke.
In
addition,
no
found
this
analysis.
Conclusion
frequencies,
correlated
infarction
type.
possibilities
hyperglycemia,
hypercholesterolemia,
hypertriglyceridemia,
hypo-HDL-cholesterolemia,
hyper-LDL-cholesterolemia
high
blood
pressure
statistically
associated
genotypes.
gene
polymorphism
detection
is
recommended
who
are
available,
during
treatment,
can
be
guide
personalized
precise
medication
use
International Journal of General Medicine,
Journal Year:
2024,
Volume and Issue:
Volume 17, P. 4959 - 4969
Published: Oct. 1, 2024
Atherosclerosis
(AS)
is
a
sustained
chronic
vascular
inflammatory
response
caused
by
lipid
metabolism
disorders
and
immune
the
main
cause
of
premature
(men
≤
55
years
old,
women
65
old)
myocardial
infarction
(PMI).
Cytochrome
P450
2C19
(CYP2C19)
(related
to
function
metabolism)
peripheral
cell
levels
plays
an
important
role
in
course
AS.
The
association
BMC Cardiovascular Disorders,
Journal Year:
2024,
Volume and Issue:
24(1)
Published: Oct. 29, 2024
Abstract
Objective
Cytochrome
P450
2C19
(CYP2C19)
plays
an
vital
role
in
the
course
of
cardiovascular
and
cerebrovascular
diseases
by
affecting
lipid
metabolism.
Triglyceride-glucose
(TyG)
is
a
comprehensive
index
composed
triglyceride
blood
glucose,
has
relationship
with
some
diseases.
There
was
no
research
report
on
association
CYP2C19
polymorphisms,
TyG
premature
cerebral
infarction
(CI)
(onset
≤
65
years
old)
susceptibility.
Methods
This
study
retrospectively
analyzed
1953
CI
patients
aged
old
from
December
2018
to
March
2024,
1919
age-matched
individuals
non-CI
as
controls.
The
between
risk
were
analyzed.
Results
proportion
hypertension,
diabetes
mellitus
higher
than
those
serum
total
cholesterol
(TC),
triglycerides
(TG),
low-density
lipoprotein-cholesterol
(LDL-C),
levels
significantly
controls
(all
p
<
0.05).
had
lower
*1
allele
frequency
(63.3%
vs.
69.6%,
0.001)
*2
(31.3%
25.4%,
Logistic
regression
analysis
showed
that
smoking
history
(odds
ratio
(OR):
1.193,
95%
confidence
interval
(CI):
1.002–1.422,
=
0.048),
hypertension
(OR:
3.371,
CI:
2.914–3.898,
0.001),
1.911,
1.632–2.237,
intermediate
metabolizer
(IM)
+
poor
(PM)
phenotypes
1.424,
1.243–1.631,
dyslipidemia
1.294,
1.077–1.554,
0.006)
independent
factors
for
CI.
Conclusions
History
smoking,
mellitus,
dyslipidemia,
IM
PM
independently
associated
