Opin vísindi

Genome-wide analysis yields new loci associating with aortic valve stenosis

Genome-wide analysis yields new loci associating with aortic valve stenosis


Titill: Genome-wide analysis yields new loci associating with aortic valve stenosis
Höfundur: Helgadottir, Anna   orcid.org/0000-0002-1806-2467
Thorleifsson, Gudmar   orcid.org/0000-0003-4623-9087
Grétarsdóttir, Sólveig
Stefánsson, Ólafur A.
Tragante, Vinicius
Þórólfsdóttir, Rósa B.
Jonsdottir, Ingileif   orcid.org/0000-0001-8339-150X
Bjoönsson, Þorsteinn
Steinthorsdottir, Valgerdur   orcid.org/0000-0003-1846-6274
Verweij, Niek
... 36 fleiri höfundar Sýna alla höfunda
Útgáfa: 2018-03-07
Tungumál: Enska
Umfang: 987
Háskóli/Stofnun: Háskóli Íslands
University of Iceland
Svið: Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Verkfræði- og náttúruvísindasvið (HÍ)
School of Engineering and Natural Sciences (UI)
Deild: Læknadeild (HÍ)
Faculty of Medicine (UI)
Birtist í: Nature Communications;9(1)
ISSN: 2041-1723
DOI: 10.1038/s41467-018-03252-6
Efnisorð: Congenital heart defects; Genome-wide association studies; Heart development; Valvular disease; Blóðrásarsjúkdómar; Arfgengi; Erfðafræði; Erfðarannsóknir
URI: https://hdl.handle.net/20.500.11815/737

Skoða fulla færslu

Tilvitnun:

Helgadottir, A., Thorleifsson, G., Gretarsdottir, S., Stefansson, O. A., Tragante, V., Thorolfsdottir, R. B., . . . Stefansson, K. (2018). Genome-wide analysis yields new loci associating with aortic valve stenosis. Nature Communications, 9(1), 987. doi:10.1038/s41467-018-03252-6

Útdráttur:

Aortic valve stenosis (AS) is the most common valvular heart disease, and valve replacement is the only definitive treatment. Here we report a large genome-wide association (GWA) study of 2,457 Icelandic AS cases and 349,342 controls with a follow-up in up to 4,850 cases and 451,731 controls of European ancestry. We identify two new AS loci, on chromosome 1p21 near PALMD (rs7543130; odds ratio (OR) = 1.20, P = 1.2 × 10−22) and on chromosome 2q22 in TEX41 (rs1830321; OR = 1.15, P = 1.8 × 10−13). Rs7543130 also associates with bicuspid aortic valve (BAV) (OR = 1.28, P = 6.6 × 10−10) and aortic root diameter (P = 1.30 × 10−8), and rs1830321 associates with BAV (OR = 1.12, P = 5.3 × 10−3) and coronary artery disease (OR = 1.05, P = 9.3 × 10−5). The results implicate both cardiac developmental abnormalities and atherosclerosis-like processes in the pathogenesis of AS. We show that several pathways are shared by CAD and AS. Causal analysis suggests that the shared risk factors of Lp(a) and non-high-density lipoprotein cholesterol contribute substantially to the frequent co-occurence of these diseases.

Leyfi:

This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

Skrár

Þetta verk birtist í eftirfarandi safni/söfnum:


Fletta

Um vefinn

Reikningurinn minn