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Olle Melander

Principal investigator

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


  • Anna Helgadottir
  • Gudmar Thorleifsson
  • Solveig Gretarsdottir
  • Olafur A. Stefansson
  • Vinicius Tragante
  • Rosa B. Thorolfsdottir
  • Ingileif Jonsdottir
  • Thorsteinn Bjornsson
  • Valgerdur Steinthorsdottir
  • Niek Verweij
  • Jonas B. Nielsen
  • Wei Zhou
  • Lasse Folkersen
  • Andreas Martinsson
  • Mahyar Heydarpour
  • Siddharth Prakash
  • Gylfi Oskarsson
  • Tomas Gudbjartsson
  • Arnar Geirsson
  • Isleifur Olafsson
  • Emil L. Sigurdsson
  • Peter Almgren
  • Olle Melander
  • Anders Franco-Cereceda
  • Anders Hamsten
  • Lars Fritsche
  • Maoxuan Lin
  • Bo Yang
  • Whitney Hornsby
  • Dongchuan Guo
  • Chad M. Brummett
  • Gonçalo Abecasis
  • Michael Mathis
  • Dianna Milewicz
  • Simon C. Body
  • Per Eriksson
  • Cristen J. Willer
  • Kristian Hveem
  • Christopher Newton-Cheh
  • J. Gustav Smith
  • Ragnar Danielsen
  • Gudmundur Thorgeirsson
  • Unnur Thorsteinsdottir
  • Daniel F. Gudbjartsson
  • Hilma Holm
  • Kari Stefansson

Summary, in English

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.


  • Cardiology
  • Department of Clinical Sciences, Malmö
  • Cardiovascular Research - Hypertension
  • EXODIAB: Excellence in Diabetes Research in Sweden
  • EpiHealth: Epidemiology for Health

Publishing year





Nature Communications





Document type

Journal article


Nature Publishing Group


  • Cardiac and Cardiovascular Systems
  • Medical Genetics



Research group

  • Cardiovascular Research - Hypertension


  • ISSN: 2041-1723