Angiotensin-converting
enzyme
2
(ACE2)
and
the
transmembrane
serine
protease
(TMPRSS2)
are
recognized
as
entry
proteins
of
severe
acute
respiratory
syndrome
coronavirus
(SARS-CoV-2),
recently
their
Single
Nucleotide
Polymorphisms
(SNP)
have
been
studied
in
different
populations
to
elucidate
impact
on
disease.
The
aim
this
study
was
evaluate
genetic
SNP
ACE2
(rs35803318)
TMPRSS2
(rs2070788)
genes
COVID-19
patients
from
Northeast
Brazil
compared
with
global
populations,
well
expression
quantitative
trait
locus
(eQTL).
For
(rs35803318),
we
found
92.6%
CC,
3.4%
CT,
4.0%
TT
genotype
carriers
SARS-CoV-2-positive
patients.
Surprisingly,
only
frequencies
were
not
Hardy-Weinberg
equilibrium.
rs2070788,
22.3%
GG,
50.7%
AG,
27%
AA
loci
(eQTLs)
revealed
that
rs35803318
associated
an
altered
PIR
gene
expression,
rs2070788
eQTLs
association
lung
tissue.
No
significant
identified
between
distribution
SNPs
'patient's
outcome.
In
conclusion,
our
results
suggest
may
be
protective
factors
for
including
Brazilian
population,
since
presence
does
affect
outcome
described
by
other
studies.
Scientific Reports,
Journal Year:
2024,
Volume and Issue:
14(1)
Published: April 3, 2024
Abstract
SARS
CoV-2,
the
causative
agent
for
ongoing
COVID-19
pandemic,
it
enters
host
cell
by
activating
ACE2
receptor
with
help
of
two
proteasesi.e.,
Furin
and
TMPRSS2.
Therefore,
variations
in
these
genes
may
account
differential
susceptibility
severity
between
populations.
Previous
studies
have
shown
that
role
TMPRSS2
gene
variants
understanding
among
Indian
Nevertheless,
a
knowledge
gap
exists
concerning
diverse
South
Asian
ethnic
groups.
Investigating
their
global
phylogeographic
structure
is
essential
to
comprehensively
We
used
450
samples
from
states
performed
linear
regression
analyse
variant's
Case
Fatality
Rate
(CFR)
could
be
epidemiologically
associated
disease
outcomes.
Associated
genetic
were
further
evaluated
expression
regulatory
potential
through
various
Insilco
analyses.
Additionally,
we
examined
using
next-generation
sequencing
(NGS)
data
393
samples,
particular
emphasis
on
Asia,
investigate
its
Phylogeographic
world
found
significant
positive
association
SNP
rs1981458
CFR
(p
<
0.05)
populations
at
different
timelines
first
second
waves.
Further,
QTL
other
analyses
showed
associations
roles
gene,
mainly
Immune
cells
virus
infection
process,
highlighting
immunity
viral
assembly
processing.
The
protein–protein
interaction
suggested
contribute
Pulmonary
arterial
hypertension
via
typical
inflammation
mechanism.
architecture
demonstrated
closer
affinity
Asia
West
Eurasian
worth
proposing
Asians
will
more
similar
population.
Our
previous
East
Eurasians
Eurasians,
respectively.
collective
information
three
important
(ACE2,
Furin)
modelled
susceptibilityof
major
ancestries
an
inclination
towards
Eurasia.
In
conclusion,
this
study,
time,
concluded
population
outlined
potential.This
study
also
highlights
distinct,
however,
inclined
believe
insight
utilised
as
biomarker
identify
vulnerable
populations,
which
might
directly
relevant
developing
policies
allocating
resources
effectively
during
epidemic.
Experimental Biology and Medicine,
Journal Year:
2023,
Volume and Issue:
248(9), P. 787 - 797
Published: May 1, 2023
The
administration
of
vaccination
doses
to
the
global
population
has
led
a
decrease
in
incidence
COVID-19.
However,
clinical
picture
developed
by
infected
individuals
remains
extremely
concerning
due
great
variability
severity
cases
even
vaccinated
individuals.
progression
pathology
is
characterized
various
influential
factors
such
as
sex,
age
group,
comorbidities,
and
genetics
individual.
immune
response
viral
infections
can
be
strongly
influenced
individuals;
nucleotide
variations
called
single-nucleotide
polymorphisms
(SNPs)
structures
involved
innate
adaptive
interferon
(IFN)-λ,
human
leukocyte
antigen
(HLA),
interleukin
(IL)-6
are
frequently
associated
with
pathological
progression.
In
this
study,
we
conducted
review
main
SNPs
these
that
Searches
were
on
some
platforms
National
Center
for
Biotechnology
Information
(NCBI),
102
studies
selected
full
reading
according
inclusion
criteria.
IFNs
showed
strong
association
antiviral
function,
specifically,
IFN-λ3
(IL-28B)
demonstrated
genetic
variants
commonly
related
pathologies.
For
COVID-19,
rs12979860
rs1298275
presented
described
unfavorable
genotypes
conditions
hepatitis
C
hepatocellular
carcinoma.
high
HLA
was
reported
crucial
factor
relevant
late
response,
mainly
its
ability
recognize
antigens,
HLA-B*46:01
SNP
being
susceptibility
IL-6,
rs1554606
relationship
addition,
rs2069837
identified
possible
host
protection
relationships
when
linked
infection.
Frontiers in Immunology,
Journal Year:
2024,
Volume and Issue:
15
Published: March 27, 2024
Serine
proteases
play
a
critical
role
during
SARS-CoV-2
infection.
Therefore,
polymorphisms
of
transmembrane
protease
serine
2
(TMPRSS2)
and
serpine
family
E
member
1
(SERPINE1)
could
help
to
elucidate
the
contribution
variability
COVID-19
outcomes.
To
evaluate
genetic
variants
genes
previously
associated
with
outcomes,
we
performed
cross-sectional
study
in
which
1536
SARS-CoV-2-positive
participants
were
enrolled.
TMPRSS2
(rs2070788,
rs75603675,
rs12329760)
SERPINE1
(rs2227631,
rs2227667,
rs2070682,
rs2227692)
genotyped
using
Open
Array
Platform.
The
association
disease
outcomes
was
determined
by
logistic
regression
analysis
adjusted
for
covariates
(age,
sex,
hypertension,
type
diabetes,
obesity).
According
our
codominant
model,
GA
genotype
rs2227667
(OR=0.55;
95%
CI
=
0.36-0.84;
p=0.006)
AG
(OR=0.59;
0.38-0.91;
p=0.02)
played
protective
against
disease.
However,
rs2227692
T
allele
TT
(OR=1.45;
1.11-1.91;
p=0.006;
OR=2.08;
1.22-3.57;
p=0.007;
respectively)
decreased
risk
death.
Similarly,
rs75603675
AA
had
an
OR
1.97
(95%
1.07-3.6;
p=0.03)
deceased
patients.
Finally,
increased
D-dimer
levels
(OR=1.24;
1.03-1.48;
p=0.02).
Our
data
suggest
that
are
poor
outcome.
Additionally,
participate
hypercoagulable
conditions
patients,
this
variant
contribute
identification
new
pharmacological
targets
treatment
strategies
block
inhibition
entry
into
SARS-CoV-2.
African Journal of Laboratory Medicine,
Journal Year:
2024,
Volume and Issue:
13(1)
Published: Aug. 27, 2024
The
clinical
presentations
of
coronavirus
disease
2019
(COVID-19)
exhibit
significant
variation,
ranging
from
asymptomatic
cases
to
mortality
resulting
severe
pneumonia.
Host
genetics
can
partially
explain
this
variation.
JOURNAL OF COMMUNICABLE DISEASES,
Journal Year:
2023,
Volume and Issue:
55(03), P. 75 - 82
Published: Dec. 7, 2023
Introduction:
The
global
COVID-19
pandemic
was
caused
by
SARSCoV-2.
Human
cells
ingest
this
virus
when
ACE2
identifies
it.
TMPRSS2
prepares
SARS-CoV-2
for
entry.
clinical
outcomes
of
are
associated
with
and
gene
expression
polymorphisms.Objective:
To
determine
if
the
rs
2070788
SNP
in
intron
11–12
is
severe
Iraqi
patients.Methods:
study
included
120
patients
from
three
Ramadi
City
hospitals
80
healthy
controls.
DNA
extraction
done
Wizard
genomic
TM
Extraction
Kit,
RNA
One
Script
Plus
cDNA
Synthesis
qRT-PCR
used
investigating
genetic
polymorphism.Results:
rs2070788
had
genotypes
(CC,
CT,
TT)
two
alleles.
controls
were
compatible
Hardy-Weinberg
equilibrium
(HWE).
Severe
significantly
higher
TT
genotype
frequencies
(28%
vs
4%,
OR
=
9.33;
95%
CI
2.03
to
43.01;
p
0.002)
T
allele
(48%
16%,
2.37;
1.32
4.26;
0.005),
respectively.
mRNA
much
lower
cases
than
In
addition,
relative
increased
1.15
±
0.71
folds
CC
compared
CT
(0.632
0.25)
(0.552
0.193)
genotypes,
but
difference
not
significant
(p
>
0.05).Conclusion:
Iraqis
highly
susceptible
due
allele.
also
downregulated
expression.
How
cite
article:Abed
TA,
Utba
NM,
Kareem
AHA.
Transmembrane
Serine
Protease-2
Gene
Polymorphism
Expression
Patients.
J
Commun
Dis.
2023;55(3):75-82.
DOI:
https://doi.org/10.24321/0019.5138.202342
Biomedicines,
Journal Year:
2023,
Volume and Issue:
11(2), P. 419 - 419
Published: Feb. 1, 2023
The
transmembrane
protease
serine
2
(TMPRSS2)
proteolytically
activates
the
envelope
proteins
of
several
viruses
for
viral
entry
via
membrane
fusion
and
is
therefore
an
interesting
promising
target
development
broad-spectrum
antivirals.
However,
use
a
host
protein
as
may
lead
to
potential
side
effects,
especially
on
immune
system.
We
examined
effect
genetic
deletion
TMPRSS2
dendritic
cells.Bone
marrow
cells
from
wild-type
(WT)
TMPRSS2-deficient
mice
(TMPRSS2-/-)
were
differentiated
plasmacytoid
(pDCs)
classical
DCs
(cDCs)
activated
with
various
toll-like
receptor
(TLR)
agonists.
analyzed
released
cytokines
mRNA
expression
chemokine
receptors,
TLR7,
TLR9,
IRF7
TCF4
stimulation.In
cDCs,
lack
led
increase
in
IL12
IFNγ
TLR7/8
agonist
resiquimod
or
TLR
9
ODN
1668-activated
cells.
Only
IL-10
was
reduced
TMPRSS2-/-
comparison
WT
1668.
In
resiquimod-activated
pDCs,
decrease
IL-6,
INFγ.
1668
activation
reduction
IFNα.
pDCs
cDCs
low.The
pDCS
depends
TLR,
seems
affect
cytokine
release
differently
cDCs.
suppress
release,
whereas
possibly
mediates
release.
Saudi Journal of Pathology and Microbiology,
Journal Year:
2023,
Volume and Issue:
8(04), P. 90 - 98
Published: April 26, 2023
Host
genetics
of
COVID-19
patients
is
constantly
evolving
and
may
play
an
important
role
in
the
management
hospitalized
identification
new
biomarkers.
In
2022,
numerous
studies
have
been
published
examining
genetic
factors
that
be
associated
with
severe
outcomes
disease,
as
well
different
biomarkers
suggested
for
early
diagnosis
SARS-CoV-2
infection.
this
literature
review,
we
provide
relevant
updated
analyses,
2022
correlate
what
was
previous
years
focused
on
host
or
fatal
forms
COVID-19,
Studies
using
genotyping
sequencing
techniques
polymorphisms
promising
results
genes
Renin
angiotensin
system,
Interferon
ABO
Apolipoprotein
E,
Dipeptidyl
petptidase,
Leucine
Zipper
Transcription
Factor-Like
Protein
1(LZTFL1)
HLA
system
diverse
populations.