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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. kstefans@decode.is  
  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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