Genome-wide analysis yields new loci associating with aortic valve stenosis
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Authors
Helgadottir, AnnaThorleifsson, Gudmar
Gretarsdottir, Solveig
Stefansson, Olafur A.
Tragante, Vinicius
Thorolfsdottir, Rosa B.
Jonsdottir, Ingileif
Bjornsson, Thorsteinn
Steinthorsdottir, Valgerdur
Verweij, Niek
Nielsen, Jonas B.
Zhou, Wei
Folkersen, Lasse
Martinsson, Andreas
Heydarpour, Mahyar
Prakash, Siddharth
Oskarsson, Gylfi
Gudbjartsson, Tomas
Geirsson, Arnar
Olafsson, Isleifur
Sigurdsson, Emil L.
Almgren, Peter
Melander, Olle
Franco-Cereceda, Anders
Hamsten, Anders
Fritsche, Lars
Lin, Maoxuan
Yang, Bo
Hornsby, Whitney
Guo, Dongchuan
Brummett, Chad M.
Abecasis, Gonçalo
Mathis, Michael
Milewicz, Dianna
Body, Simon C.
Eriksson, Per
Willer, Cristen J.
Hveem, Kristian
Newton-Cheh, Christopher
Smith, J. Gustav
Danielsen, Ragnar
Thorgeirsson, Gudmundur
Thorsteinsdottir, Unnur
Gudbjartsson, Daniel F.
Holm, Hilma
Stefansson, Kari
Issue Date
2018-03-07
Metadata
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Genome-wide analysis yields new loci associating with aortic valve stenosis 2018, 9 (1) Nature CommunicationsAbstract
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.Description
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http://www.nature.com/articles/s41467-018-03252-6Rights
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10.1038/s41467-018-03252-6
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