Association of genes CSK, MTHFR, АСЕ, ADRA2B, TCF7L2 with metabolic syndrome in indigenous and non-indigenous young residents of Western Siberia
Meditsinskiy sovet = Medical Council,
Journal Year:
2025,
Volume and Issue:
23, P. 46 - 53
Published: Jan. 20, 2025
Introduction
.
Due
to
the
negative
trend
of
growth
cardiovascular
and
endocrine
diseases
among
young
people,
need
study
genes
involved
in
development
metabolic
disorders
is
becoming
urgent.
Aim.
To
prevalence
variants
CSK,
MTHFR,
ACE,
ADRA2B,
TCF7L2
their
association
with
syndrome
indigenous
non-indigenous
men
women
living
Khanty-Mansiysk
autonomous
okrug
–
Yugra.
Materials
methods.
The
863
people
city
Surgut
district
KhantyMansiysk
Yugra
aged
18
44
years.
population
(280
people)
represented
by
76
204
women,
non–indigenous
(583
207
376
women.
DNA
MTHFR
was
isolated
polymerase
chain
reaction.
Results
It
found
that
(khanty)
there
are
some
differences
alleles
genotypes
gene
comparison
international
GnomAD
database
(v.3.1),
which
associated
peculiarities
ethnic
composition
environment.
rs1799752
variant
ACE
people:
genotype
ID
(p
=
0.027),
DD
0.019).
Conclusion.
Thus,
were
no
statistically
significant
between
residents
frequency
rs1378942
rs1801133
rs28365031
ADRA2B
rs7903146
TCF7L2.
In
group
residents,
presence
more
often
carrier
ACE.
research
results
can
be
used
develop
individual
approaches
treatment
prevention
take
into
account
genetic
characteristics
each
person.
Language: Английский
Identification of novel key genes and signaling pathways in hypertrophic cardiomyopathy: evidence from bioinformatics and next generation sequencing data analysis
bioRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2024,
Volume and Issue:
unknown
Published: Oct. 15, 2024
Abstract
Hypertrophic
cardiomyopathy
(HCM)
is
a
global
health
problem
characterized
by
left
ventricle
become
thick
and
stiff
with
effect
of
indication
including
chest
pain,
fluttering,
fainting
shortness
breath.
In
this
investigation,
we
aimed
to
identify
diagnostic
markers
analyzed
the
therapeutic
potential
essential
genes.
Next
generation
sequencing
(NGS)
dataset
GSE180313
was
obtained
from
Gene
Expression
Omnibus
(GEO)
database
used
differentially
expressed
genes
(DEGs)
in
HCM.
DEGs
were
screened
using
DESeq2
Rbioconductor
tool.
Then,
Ontology
(GO)
REACTOME
pathway
enrichment
analyses
performed.
Moreover,
protein-protein
interaction
(PPI)
network
constructed,
module
analysis
Next,
miRNA-hub
gene
regulatory
TF-hub
constructed
analyzed.
Finally,
values
hub
assessed
receiver
operating
characteristic
(ROC)
curve
analysis.
By
performing
analysis,
total
958
(479
up
regulated
479
down
genes)
successfully
identified
GSE180313,
respectively.
GO
revealed
that
functions
signaling
pathways
significantly
enriched
response
stimulus,
multicellular
organismal
process,
metabolism
extracellular
matrix
organization.
The
FN1,
SOX2,
TUBA4A,
RPS2,
TUBA1C,
ESR1,
SNCA,
LCK,
PAK1
APLNR
might
be
associated
gens
FN1
TPM3,
together
corresponding
predicted
miRNAs
(e.g.,
hsa-mir-374a-5p
hsa-miR-8052),
SH3KBP1
ESR1
TFs
(e.g
PRRX2
STAT3)
found
correlated
This
investigation
could
serve
as
basis
for
further
understanding
molecular
pathogenesis
targets
Language: Английский