Multi-population Genome-Wide Association Study Identifies Multiple Novel Loci associated with Asymptomatic Intracranial Large Artery Stenosis
medRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2025,
Номер
unknown
Опубликована: Май 7, 2025
Intracranial
large
artery
stenosis
(ILAS)
is
one
of
the
most
common
causes
stroke
worldwide
and
associated
with
risk
for
future
vascular
events.
Asymptomatic
ILAS
a
frequent
finding
on
neuroimaging
shares
many
factors
atherosclerotic
disease.
Whether
asymptomatic
driven
by
genetic
variants
not
well-understood.
This
study
included
4960
participants
from
seven
geographically
diverse
population-based
cohorts
(34%
Whites,
16%
African
Americans,
22%
Hispanics,
24%
Asians,
5%
native
Ecuadorians).
We
defined
as
luminal
>
50%
in
any
brain
using
time-of-flight
magnetic
resonance
angiography
(MRA).
A
genome-wide
association
revealed
variant
RP11-552D8.1
(rs75615271;
OR,
1.22
[1.11-1.33];
P
=4.85×10
-8
)
global
at
significance
(
<5×10
).
Gene-based
analysis
identified
gene-set
enriched
chr1q32
region,
including
NEK2
,
LPGAT1
INTS7
DTL
TMEM206
=1.34
×10
-7
anterior
=1.77
reveals
rs75615271
multi-population.
Further
functional
studies
may
help
elucidate
role
that
this
plays
pathophysiology
ILAS.
Язык: Английский
TMEM206 Contributes to Cancer Hallmark Functions in Colorectal Cancer Cells and Is Regulated by p53 in a p21-Dependent Manner
Cells,
Год журнала:
2024,
Номер
13(22), С. 1825 - 1825
Опубликована: Ноя. 5, 2024
Acid-induced
ion
flux
plays
a
role
in
pathologies
where
tissue
acidification
is
prevalent,
including
cancer.
In
2019,
TMEM206
was
identified
as
the
molecular
component
of
acid-induced
chloride
flux.
Localizing
to
plasma
membrane,
contributes
cellular
processes
like
cell
death.
Since
over
50%
human
cancers
carry
loss
function
mutations
p53
gene,
we
aimed
analyze
how
regulated
by
and
its
cancer
hallmark
death
HCT116
colorectal
(CRC)
cells.
We
generated
p53-deficient
cells
assessed
TMEM206-mediated
Cl
Язык: Английский