Forearm vasodilator reactivity in healthy male carriers of the 3q22.3 rs9818870 polymorphism

A genome wide association study has identified a robust risk locus for cardiovascular disease on 3q22.3. However, the mechanisms by which the [C]/[T] polymorphism rs9818870 increases cardiovascular risk are unknown. This forearm blood flow (FBF) study addressed the question if the genetic associatio...

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Bibliographic Details
Published in:Microvascular research 2015-11, Vol.102, p.33-37
Main Authors: Aschauer, Stefan, Brunner, Martin, Wolzt, Michael, Haslacher, Helmuth, Ristl, Robin, Müller, Markus
Format: Article
Language:English
Subjects:
Adult
Chromosome 3q22.3
Chromosomes, Human, Pair 3 - genetics
Coronary artery disease
Coronary Artery Disease - genetics
Coronary Artery Disease - physiopathology
Forearm - blood supply
Forearm blood flow
Genetic Predisposition to Disease
Heterozygote
Homozygote
Humans
Male
Polymorphism, Single Nucleotide
Risk Factors
Single nucleotide polymorphism
Vascular function
Vasodilation - genetics
Young Adult
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Summary:A genome wide association study has identified a robust risk locus for cardiovascular disease on 3q22.3. However, the mechanisms by which the [C]/[T] polymorphism rs9818870 increases cardiovascular risk are unknown. This forearm blood flow (FBF) study addressed the question if the genetic association with cardiovascular disease in patients is preceded by incipient vasodilator impairment in young, healthy carriers of this new risk locus on chromosome 3. After a pre-screening of 74 subjects 17 male healthy volunteers homozygous/heterozygous for a single nucleotide polymorphism (SNP) risk allele on 3q22.3 and a control group of 17 healthy volunteers not carrying the allele were included into this case–control study. Forearm vascular endothelium-dependent and -independent vasodilator responses were in the normal range in both groups, although endothelium-dependent FBF reactivity to acetylcholine was significantly higher in SNP carriers of the risk allele. The augmented endothelium-dependent vasodilation of the forearm resistance vasculature does not support the presence of endothelial dysfunction in young SNP carriers and indicates that other mechanisms are responsible for the strong association between coronary artery diseases and the rs9818870 polymorphism, located on 3q22.3.
ISSN:0026-2862
1095-9319
DOI:10.1016/j.mvr.2015.08.005