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Author (up) Helgadottir, A.; Thorleifsson, G.; Gretarsdottir, S.; Stefansson, O.A.; Tragante, V.; Thorolfsdottir, R.B.; Jonsdottir, I.; Bjornsson, T.; Steinthorsdottir, V.; Verweij, N.; Nielsen, J.B.; Zhou, W.; Folkersen, L.; Martinsson, A.; Heydarpour, M.; Prakash, S.; Oskarsson, G.; Gudbjartsson, T.; Geirsson, A.; Olafsson, I.; Sigurdsson, E.L.; Almgren, P.; Melander, O.; Franco-Cereceda, A.; Hamsten, A.; Fritsche, L.; Lin, M.; Yang, B.; Hornsby, W.; Guo, D.; Brummett, C.M.; Abecasis, G.; Mathis, M.; Milewicz, D.; Body, S.C.; Eriksson, P.; Willer, C.J.; Hveem, K.; Newton-Cheh, C.; Smith, J.G.; Danielsen, R.; Thorgeirsson, G.; Thorsteinsdottir, U.; Gudbjartsson, D.F.; Holm, H.; Stefansson, K. url  doi
  Title Genome-wide analysis yields new loci associating with aortic valve stenosis Type Journal Article
  Year 2018 Publication Nature Communications Abbreviated Journal Nat Commun  
  Volume 9 Issue 1 Pages 987  
  Keywords Aortic Valve Stenosis/*genetics; Case-Control Studies; Coronary Artery Disease/genetics; Genome-Wide Association Study; Humans; Phenotype; Risk Factors  
  Abstract 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 x 10(-22)) and on chromosome 2q22 in TEX41 (rs1830321; OR = 1.15, P = 1.8 x 10(-13)). Rs7543130 also associates with bicuspid aortic valve (BAV) (OR = 1.28, P = 6.6 x 10(-10)) and aortic root diameter (P = 1.30 x 10(-8)), and rs1830321 associates with BAV (OR = 1.12, P = 5.3 x 10(-3)) and coronary artery disease (OR = 1.05, P = 9.3 x 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.  
  Address Faculty of Medicine, University of Iceland, Reykjavik, 101, Iceland.  
  Corporate Author Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 2041-1723 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:29511194; PMCID:PMC5840367 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 2093  
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