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Genome-wide association study identifies loci for arterial stiffness index in 127,121 UK Biobank participants
by
Petersen, Steffen E.
, Aung, Nay
, Lee, Aaron M.
, Munroe, Patricia B.
, Ramírez, Julia
, Warren, Helen R.
, Tzanis, Evan
, Fung, Kenneth
in
45/43
/ 631/208/205/2138
/ 692/4019/592/2727
/ Biological Specimen Banks
/ Blood pressure
/ Cardiovascular disease
/ Cardiovascular diseases
/ Collagen (type IV)
/ FOXO1 protein
/ Genes
/ Genetic Loci - genetics
/ Genetic Predisposition to Disease - genetics
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Health risks
/ Hormone replacement therapy
/ Humanities and Social Sciences
/ Humans
/ multidisciplinary
/ Polymorphism, Single Nucleotide
/ Science
/ Science (multidisciplinary)
/ Smooth muscle
/ United Kingdom
/ Vascular Stiffness - genetics
2019
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Genome-wide association study identifies loci for arterial stiffness index in 127,121 UK Biobank participants
by
Petersen, Steffen E.
, Aung, Nay
, Lee, Aaron M.
, Munroe, Patricia B.
, Ramírez, Julia
, Warren, Helen R.
, Tzanis, Evan
, Fung, Kenneth
in
45/43
/ 631/208/205/2138
/ 692/4019/592/2727
/ Biological Specimen Banks
/ Blood pressure
/ Cardiovascular disease
/ Cardiovascular diseases
/ Collagen (type IV)
/ FOXO1 protein
/ Genes
/ Genetic Loci - genetics
/ Genetic Predisposition to Disease - genetics
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Health risks
/ Hormone replacement therapy
/ Humanities and Social Sciences
/ Humans
/ multidisciplinary
/ Polymorphism, Single Nucleotide
/ Science
/ Science (multidisciplinary)
/ Smooth muscle
/ United Kingdom
/ Vascular Stiffness - genetics
2019
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Genome-wide association study identifies loci for arterial stiffness index in 127,121 UK Biobank participants
by
Petersen, Steffen E.
, Aung, Nay
, Lee, Aaron M.
, Munroe, Patricia B.
, Ramírez, Julia
, Warren, Helen R.
, Tzanis, Evan
, Fung, Kenneth
in
45/43
/ 631/208/205/2138
/ 692/4019/592/2727
/ Biological Specimen Banks
/ Blood pressure
/ Cardiovascular disease
/ Cardiovascular diseases
/ Collagen (type IV)
/ FOXO1 protein
/ Genes
/ Genetic Loci - genetics
/ Genetic Predisposition to Disease - genetics
/ Genome-wide association studies
/ Genome-Wide Association Study
/ Genomes
/ Health risks
/ Hormone replacement therapy
/ Humanities and Social Sciences
/ Humans
/ multidisciplinary
/ Polymorphism, Single Nucleotide
/ Science
/ Science (multidisciplinary)
/ Smooth muscle
/ United Kingdom
/ Vascular Stiffness - genetics
2019
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Genome-wide association study identifies loci for arterial stiffness index in 127,121 UK Biobank participants
Journal Article
Genome-wide association study identifies loci for arterial stiffness index in 127,121 UK Biobank participants
2019
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Overview
Arterial stiffness index (ASI) is a non-invasive measure of arterial stiffness using infra-red finger sensors (photoplethysmography). It is a well-suited measure for large populations as it is relatively inexpensive to perform, and data can be acquired within seconds. These features raise interest in using ASI as a tool to estimate cardiovascular disease risk as prior work demonstrates increased arterial stiffness is associated with elevated systolic blood pressure, and ASI is predictive of cardiovascular disease and mortality. We conducted genome-wide association studies (GWASs) for ASI in 127,121 UK Biobank participants of European-ancestry. Our primary analyses identified variants at four loci reaching genome-wide significance (
P
< 5 × 10
−8
):
TEX41
(rs1006923;
P
= 5.3 × 10
−12
),
FOXO1
(rs7331212;
P
= 2.2 × 10
−11
),
C1orf21
(rs1930290,
P
= 1.1 × 10
−8
) and
MRVI1
(rs10840457,
P
= 3.4 × 10
−8
). Gene-based testing revealed three significant genes, the most significant gene was
COL4A2
(
P
= 1.41 × 10
−8
) encoding type IV collagen. Other candidate genes at associated loci were also involved in smooth muscle tone regulation. Our findings provide new information for understanding the development of arterial stiffness.
Publisher
Nature Publishing Group UK,Nature Publishing Group
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