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  • Helgadottir, AnnadeCODE Genetics (author)

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

  • Article/chapterEnglish2018

Publisher, publication year, extent ...

  • 2018-03-07
  • Springer Science and Business Media LLC,2018

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:55c08a87-7fa3-434a-8886-b46460dc7268
  • https://lup.lub.lu.se/record/55c08a87-7fa3-434a-8886-b46460dc7268URI
  • https://doi.org/10.1038/s41467-018-03252-6DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:137799962URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Thorleifsson, GudmardeCODE Genetics (author)
  • Gretarsdottir, SolveigdeCODE Genetics (author)
  • Stefansson, Olafur A.deCODE Genetics (author)
  • Tragante, ViniciusdeCODE Genetics (author)
  • Thorolfsdottir, Rosa B.deCODE Genetics (author)
  • Jonsdottir, IngileifdeCODE Genetics,University of Iceland (author)
  • Bjornsson, ThorsteinndeCODE Genetics (author)
  • Steinthorsdottir, ValgerdurdeCODE Genetics (author)
  • Verweij, NiekUniversity Medical Center Groningen,Broad Institute (author)
  • Nielsen, Jonas B.University of Michigan (author)
  • Zhou, WeiUniversity of Michigan (author)
  • Folkersen, LasseKarolinska University Hospital,Technical University of Denmark (author)
  • Martinsson, AndreasLund University,Lunds universitet,Kardiologi,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Cardiology,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital(Swepub:lu)med-asm (author)
  • Heydarpour, MahyarBrigham and Women's Hospital / Harvard Medical School (author)
  • Prakash, SiddharthUniversity of Texas (author)
  • Oskarsson, GylfiNational University Hospital of Iceland(Swepub:lu)extLU-265 (author)
  • Gudbjartsson, TomasNational University Hospital of Iceland (author)
  • Geirsson, ArnarYale University (author)
  • Olafsson, IsleifurNational University Hospital of Iceland (author)
  • Sigurdsson, Emil L.University of Iceland (author)
  • Almgren, PeterLund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine,Skåne University Hospital(Swepub:lu)endo-pal (author)
  • Melander, OlleLund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Department of Clinical Sciences, Malmö,Faculty of Medicine,Cardiovascular Research - Hypertension,Lund University Research Groups,Skåne University Hospital(Swepub:lu)endo-ome (author)
  • Franco-Cereceda, AndersKarolinska Institutet,Karolinska University Hospital (author)
  • Hamsten, AndersKarolinska Institutet,Karolinska University Hospital (author)
  • Fritsche, LarsNorwegian University of Science and Technology (author)
  • Lin, MaoxuanUniversity of Michigan (author)
  • Yang, BoUniversity of Michigan (author)
  • Hornsby, WhitneyUniversity of Michigan (author)
  • Guo, DongchuanUniversity of Texas (author)
  • Brummett, Chad M.University of Michigan (author)
  • Abecasis, GonçaloUniversity of Michigan (author)
  • Mathis, MichaelUniversity of Michigan (author)
  • Milewicz, DiannaTexas Heart Institute,University of Texas (author)
  • Body, Simon C.Brigham and Women's Hospital / Harvard Medical School (author)
  • Eriksson, PerKarolinska Institutet,Karolinska University Hospital (author)
  • Willer, Cristen J.University of Michigan (author)
  • Hveem, KristianNorwegian University of Science and Technology (author)
  • Newton-Cheh, ChristopherBroad Institute,Massachusetts General Hospital (author)
  • Smith, J. GustavLund University,Lunds universitet,Kardiologi,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Cardiology,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital(Swepub:lu)med-gvs (author)
  • Danielsen, RagnarNational University Hospital of Iceland (author)
  • Thorgeirsson, GudmundurNational University Hospital of Iceland,deCODE Genetics,University of Iceland (author)
  • Thorsteinsdottir, UnnurdeCODE Genetics,University of Iceland (author)
  • Gudbjartsson, Daniel F.deCODE Genetics,University of Iceland (author)
  • Holm, HilmadeCODE Genetics (author)
  • Stefansson, KariUniversity of Iceland,deCODE Genetics (author)
  • deCODE GeneticsUniversity of Iceland (creator_code:org_t)

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  • In:Nature Communications: Springer Science and Business Media LLC9:12041-1723

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