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Analysis with the e...
Analysis with the exome array identifies multiple new independent variants in lipid loci
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- Kanoni, Stavroula (author)
- Queen Mary University
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- Masca, Nicholas G D (author)
- University of Leicester,National and Kapodistrian University of Athens
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- Stirrups, Kathleen E (author)
- Queen Mary University
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- Varga, Tibor V. (author)
- Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups,Massachusetts General Hospital,Broad Institute
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- Warren, Helen R (author)
- Queen Mary University
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- Scott, Robert A (author)
- Addenbrooke's Hospital
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- Southam, Lorraine (author)
- Wellcome Trust Sanger Institute
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- Zhang, Weihua (author)
- Imperial College London
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- Yaghootkar, Hanieh (author)
- University of Exeter
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- Müller-Nurasyid, Martina (author)
- Helmholtz Zentrum München
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- Couto Alves, Alexessander (author)
- Imperial College London
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- Strawbridge, Rona J (author)
- Karolinska Institutet
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- Lataniotis, Lazaros (author)
- Queen Mary University
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- An Hashim, Nikman (author)
- Imperial College London
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- Besse, Céline (author)
- Centre National de Génotypage
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- Boland, Anne (author)
- Centre National de Génotypage
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- Braund, Peter S (author)
- University of Leicester,Imperial College London
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- Connell, John M (author)
- University of Dundee
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- Dominiczak, Anna (author)
- University of Glasgow
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- Farmaki, Aliki-Eleni (author)
- National and Kapodistrian University of Athens
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- Franks, Stephen (author)
- Imperial College London
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- Grallert, Harald (author)
- German Center for Diabetes Research
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- Jansson, Jan-Håkan (author)
- Umeå University,Umeå universitet,Medicin
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- Karaleftheri, Maria (author)
- Echinos Medical Centre
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- Keinänen-Kiukaanniemi, Sirkka (author)
- University of Oulu
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- Matchan, Angela (author)
- Wellcome Trust Sanger Institute
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- Pasko, Dorota (author)
- University of Exeter
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- Peters, Annette (author)
- Helmholtz Zentrum München
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- Poulter, Neil (author)
- Imperial College London
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- Rayner, Nigel W (author)
- Wellcome Trust Sanger Institute
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- Renström, Frida (author)
- Lund University,Lunds universitet,Umeå universitet,Enheten för biobanksforskning,Department of Clinical Sciences, Genetic and Molecular Epidemiology Unit, Lund University, Skåne University Hospital Malmö, Malmö , Sweden,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups,Queen Mary University
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- Rolandsson, Olov (author)
- Umeå University,Umeå universitet,Allmänmedicin
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- Sabater-Lleal, Maria (author)
- Karolinska Institutet
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- Sennblad, Bengt (author)
- Karolinska Institutet
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Sever, Peter (author)
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- Shields, Denis (author)
- University College Dublin
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- Silveira, Angela (author)
- Karolinska Institutet
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- Stanton, Alice V (author)
- Royal College of Surgeons in Ireland
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- Strauch, Konstantin (author)
- Helmholtz Zentrum München
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- Tomaszewski, Maciej (author)
- University of Leicester
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- Tsafantakis, Emmanouil (author)
- Anogia Medical Centre
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- Waldenberger, Melanie (author)
- Helmholtz Zentrum München
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- Blakemore, Alexandra I F (author)
- Imperial College London
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Dedoussis, George (author)
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- Escher, Stefan A (author)
- Lund University
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- Kooner, Jaspal S (author)
- Ealing Hospital
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- McCarthy, Mark I (author)
- University of Oxford
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- Palmer, Colin N A (author)
- University of Dundee
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- Hamsten, Anders (author)
- Karolinska Institutet
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- Caulfield, Mark J (author)
- Queen Mary University
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- Frayling, Timothy M (author)
- University of Exeter
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- Tobin, Martin D (author)
- University of Leicester
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- Jarvelin, Marjo-Riitta (author)
- Imperial College London
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- Zeggini, Eleftheria (author)
- Wellcome Trust Sanger Institute
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- Gieger, Christian (author)
- Helmholtz Zentrum München
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- Chambers, John C (author)
- Imperial College London
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- Wareham, Nick J (author)
- Queen Mary University
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- Munroe, Patricia B (author)
- Queen Mary University
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- Franks, Paul W. (author)
- Umeå University,Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups,Harvard University
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- Samani, Nilesh J (author)
- University of Leicester
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- Deloukas, Panos (author)
- Queen Mary University
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(creator_code:org_t)
- 2016-07-27
- 2016
- English.
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 25:18, s. 4094-4106
- Related links:
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https://academic.oup...
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http://dx.doi.org/10...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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http://kipublication...
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Abstract
Subject headings
Close
- It has been hypothesized that low frequency (1-5% minor allele frequency (MAF)) and rare (<1% MAF) variants with large effect sizes may contribute to the missing heritability in complex traits. Here, we report an association analysis of lipid traits (total cholesterol, LDL-cholesterol, HDL-cholesterol triglycerides) in up to 27 312 individuals with a comprehensive set of low frequency coding variants (ExomeChip), combined with conditional analysis in the known lipid loci. No new locus reached genome-wide significance. However, we found a new lead variant in 26 known lipid association regions of which 16 were >1000-fold more significant than the previous sentinel variant and not in close LD (six had MAF <5%). Furthermore, conditional analysis revealed multiple independent signals (ranging from 1 to 5) in a third of the 98 lipid loci tested, including rare variants. Addition of our novel associations resulted in between 1.5- and 2.5-fold increase in the proportion of heritability explained for the different lipid traits. Our findings suggest that rare coding variants contribute to the genetic architecture of lipid traits.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Kanoni, Stavroul ...
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Masca, Nicholas ...
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Stirrups, Kathle ...
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Varga, Tibor V.
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Warren, Helen R
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Scott, Robert A
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show more...
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Southam, Lorrain ...
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Zhang, Weihua
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Yaghootkar, Hani ...
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Müller-Nurasyid, ...
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Couto Alves, Ale ...
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Strawbridge, Ron ...
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Lataniotis, Laza ...
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An Hashim, Nikma ...
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Besse, Céline
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Boland, Anne
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Braund, Peter S
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Connell, John M
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Dominiczak, Anna
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Farmaki, Aliki-E ...
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Franks, Stephen
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Grallert, Harald
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Jansson, Jan-Håk ...
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Karaleftheri, Ma ...
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Keinänen-Kiukaan ...
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Matchan, Angela
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Pasko, Dorota
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Peters, Annette
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Poulter, Neil
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Rayner, Nigel W
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Renström, Frida
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Rolandsson, Olov
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Sabater-Lleal, M ...
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Sennblad, Bengt
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Sever, Peter
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Shields, Denis
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Silveira, Angela
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Stanton, Alice V
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Strauch, Konstan ...
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Tomaszewski, Mac ...
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Tsafantakis, Emm ...
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Waldenberger, Me ...
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Blakemore, Alexa ...
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Dedoussis, Georg ...
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Escher, Stefan A
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Kooner, Jaspal S
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McCarthy, Mark I
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Palmer, Colin N ...
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Hamsten, Anders
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Caulfield, Mark ...
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Frayling, Timoth ...
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Tobin, Martin D
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Jarvelin, Marjo- ...
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Zeggini, Elefthe ...
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Gieger, Christia ...
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Chambers, John C
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Wareham, Nick J
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Munroe, Patricia ...
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Franks, Paul W.
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Samani, Nilesh J
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Deloukas, Panos
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Human Molecular ...
- By the university
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Umeå University
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Lund University
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Karolinska Institutet