Sökning: (WFRF:(Smith Caroline)) srt2:(2015-2019) > Directional dominan...
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001 | oai:DiVA.org:uu-258904 | |
003 | SwePub | |
008 | 150721s2015 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:131711856 | |
009 | oai:hhs.se:1155143890006056 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2589042 URI |
024 | 7 | a https://doi.org/10.1038/nature146182 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1317118562 URI |
024 | 7 | a https://research.hhs.se/esploro/outputs/journalArticle/Directional-dominance-on-stature-and-cognition/9910014809755060562 URI |
040 | a (SwePub)uud (SwePub)kid (SwePub)hhs | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
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100 | 1 | a Joshi, Peter Ku University of Edinburgh,Harvard University (US),Imperial College (GB)4 aut |
245 | 1 0 | a Directional dominance on stature and cognition in diverse human populations |
264 | c 2015-07-01 | |
264 | 1 | b Springer Science and Business Media LLC,c 2015 |
338 | a print2 rdacarrier | |
520 | a Homozygosity has long been associated with rare, often devastating, Mendelian disorders, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10(-300), 2.1 × 10(-6), 2.5 × 10(-10) and 1.8 × 10(-10), respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months' less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been. | |
650 | 7 | a NATURVETENSKAPx Biologi0 (SwePub)1062 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciences0 (SwePub)1062 hsv//eng |
700 | 1 | a Esko, Tonuu University of Tartu4 aut |
700 | 1 | a Mattsson, Hanneleu National Institute for Health and Welfare4 aut |
700 | 1 | a Eklund, Niinau National Institute for Health and Welfare4 aut |
700 | 1 | a Gandin, Ilariau University of Lorraine,Università di Trieste (IT)4 aut |
700 | 1 | a Nutile, Teresau Italian National Research Council4 aut |
700 | 1 | a Jackson, Anne Uu University of Michigan (US)4 aut |
700 | 1 | a Schurmann, Claudiau Icahn School of Medicine at Mount Sinai4 aut |
700 | 1 | a Smith, Albert Vu University of Edinburgh,Icelandic Heart Association (IS)4 aut |
700 | 1 | a Zhang, Weihuau Imperial College (GB)4 aut |
700 | 1 | a Okada, Yukinoriu Tokyo Medical and Dental University4 aut |
700 | 1 | a Stančáková, Alenau University of Eastern Finland4 aut |
700 | 1 | a Faul, Jessica Du University of Michigan (US)4 aut |
700 | 1 | a Zhao, Weiu University of Michigan (US),University of Mississippi4 aut |
700 | 1 | a Bartz, Traci Mu University of Washington in Seattle,King's College London (GB),Statens Serum Institut4 aut |
700 | 1 | a Concas, Maria Pinau UOS OF Sassari - National Research Council4 aut |
700 | 1 | a Franceschini, Norau University of North Carolina4 aut |
700 | 1 | a Enroth, Stefanu Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik,Gyllensten,Uppsala University (SE)4 aut0 (Swepub:uu)stenr451 |
700 | 1 | a Vitart, Veroniqueu Royal College of Surgeons in Ireland4 aut |
700 | 1 | a Trompet, Stellau Leiden University4 aut |
700 | 1 | a Guo, Xiuqingu Los Angeles Biomedical Research Institute4 aut |
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700 | 1 | a Mangino, Massimou Washington University (US),Erasmus Medical Center,University of Edinburgh,CSIR-Institute of Genomics & Integrative Biology,University of Oxford (GB),Leiden University,University of Groningen (NL),The Johns Hopkins University School of Medicine,University of Leicester,Brigham and Women's Hospital and Harvard Medical School,University of Exeter (GB),Boston Children's Hospital4 aut |
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700 | 1 | a Traglia, Michelau University of California (US)4 aut |
700 | 1 | a Farmaki, Aliki-Eleniu Harokopion University of Athens4 aut |
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700 | 1 | a Hofer, Edithu Medical University of Graz,University of Dundee4 aut |
700 | 1 | a Rietveld, Cornelius Au Erasmus University (NL),VU University (NL)4 aut |
700 | 1 | a McLeod, Olgau Karolinska University Hospital (SE)4 aut |
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700 | 1 | a Abdellaoui, Abdelu Karolinska Institutet,University of Western Australia,Children's Hospital of Philadelphia,University of Cambridge,National Institute for Health and Welfare,University of Dundee,Queensland University of Technology (AU),Copenhagen University (DK),The Johns Hopkins University School of Medicine,QIMR Berghofer Medical Research Institute,University of Lübeck,University of Michigan (US),University of California (US)4 aut |
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700 | 1 | a Vuckovic, Draganau Università di Trieste (IT)4 aut |
700 | 1 | a Mei, Hao4 aut |
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700 | 1 | a Mirza, Saira Su Erasmus Medical Center4 aut |
700 | 1 | a Benton, Miles Cu Queensland University of Technology (AU)4 aut |
700 | 1 | a Broeckel, Ulrichu Medical College of Wisconsin4 aut |
700 | 1 | a Medland, Sarah Eu Queensland Institute of Medical Research4 aut |
700 | 1 | a Lind, Penelope Au Akademiska sjukhuset (SE)4 aut |
700 | 1 | a Malerba, Giovanniu University of Verona4 aut |
700 | 1 | a Drong, Alexanderu University of Oxford (GB)4 aut |
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700 | 1 | a Bielak, Lawrence Fu University of Michigan (US)4 aut |
700 | 1 | a Zhi, Deguiu University of Alabama (US)4 aut |
700 | 1 | a van der Most, Peter Ju University of Groningen (NL)4 aut |
700 | 1 | a Shriner, Danielu Center for Research on Genomics and Global Health4 aut |
700 | 1 | a Mägi, Reediku University of Tartu4 aut |
700 | 1 | a Hemani, Gibranu Bristol University (GB)4 aut |
700 | 1 | a Karaderi, Tugceu University of Oxford (GB)4 aut |
700 | 1 | a Wang, Zhaomingu National Cancer Institute4 aut |
700 | 1 | a Liu, Tianu Max Planck Institute for Molecular Genetics4 aut |
700 | 1 | a Demuth, Iljau Charite University Hospital4 aut |
700 | 1 | a Zhao, Jing Huau University of Cambridge4 aut |
700 | 1 | a Meng, Weihuau University of Dundee4 aut |
700 | 1 | a Lataniotis, Lazarosu University of Michigan (US),University of North Carolina,Queen Mary University of London,University of Groningen (NL),Boston University (US)4 aut |
700 | 1 | a van der Laan, Sander Wu UMC Utrecht4 aut |
700 | 1 | a Bradfield, Jonathan Pu Children's Hospital of Philadelphia4 aut |
700 | 1 | a Wood, Andrew Ru University of Exeter (GB)4 aut |
700 | 1 | a Bonnefond, Amelieu European Genomic Institute for Diabetes4 aut |
700 | 1 | a Ahluwalia, Tarunveer Su Copenhagen University (DK)4 aut |
700 | 1 | a Hall, Leanne M4 aut |
700 | 1 | a Salvi, Erikau University of Milan (IT)4 aut |
700 | 1 | a Yazar, Seyhanu University of Western Australia4 aut |
700 | 1 | a Carstensen, Lisbethu Statens Serum Institut4 aut |
700 | 1 | a de Haan, Hugoline Gu Catholic University of the Sacred Heart,Università di Trieste (IT),Leiden University4 aut |
700 | 1 | a Abney, Marku University of Chicago (US)4 aut |
700 | 1 | a Afzal, Uzmau Imperial College (GB)4 aut |
700 | 1 | a Allison, Matthew A4 aut |
700 | 1 | a Amin, Najafu Erasmus Medical Center4 aut |
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700 | 1 | a Benjamin, Daniel Ju Cornell University (US)4 aut |
700 | 1 | a Bergmann, Svenu University of Lausanne4 aut |
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700 | 1 | a Chan, Yingleongu Boston Children's Hospital4 aut |
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700 | 1 | a Smith, George Daveyu Bristol University (GB)4 aut |
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700 | 1 | a Ehret, Georgu The Johns Hopkins University School of Medicine4 aut |
700 | 1 | a Ellis, Stephen Bu Icahn School of Medicine at Mount Sinai4 aut |
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700 | 1 | a Feitosa, Mary Fu Washington University (US)4 aut |
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700 | 1 | a Heikkilä, Kaukou University of Helsinki (FI)4 aut |
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700 | 1 | a Ingelsson, Eriku Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab,Karolinska Institutet (SE)4 aut0 (Swepub:uu)ering425 |
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700 | 1 | a Johansson, Åsau Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab,Uppsala University (SE)4 aut0 (Swepub:uu)asjoh108 |
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700 | 1 | a Jukema, J Wouteru Leiden University4 aut |
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700 | 1 | a Männistö, Satuu National Institute for Health and Welfare4 aut |
700 | 1 | a Marques-Vidal, Pedrou University of Lausanne4 aut |
700 | 1 | a Masciullo, Corrado4 aut |
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700 | 1 | a Bertram, Larsu University of Lübeck4 aut |
700 | 1 | a Lindenberger, Ulmanu Max Planck Institute for Human Development4 aut |
700 | 1 | a Berndt, Sonja Iu National Institutes of Health4 aut |
700 | 1 | a Lindgren, Cecilia M4 aut |
700 | 1 | a Timpson, Nicholas Ju Bristol University (GB)4 aut |
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700 | 1 | a Sørensen, Thorkild I A4 aut |
700 | 1 | a Rotimi, Charles Nu National Human Genome Research Institute4 aut |
700 | 1 | a Arnett, Donna Ku University of Alabama (US)4 aut |
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700 | 1 | a Balkau, Beverleyu Washington University (US)4 aut |
700 | 1 | a Gambaro, Giovanniu Folkhälsan Research Centre,Queensland Institute of Medical Research,University of Mississippi4 aut |
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700 | 1 | a Griffiths, Lyn R4 aut |
700 | 1 | a Tiemeier, Henningu Erasmus University (NL)4 aut |
700 | 1 | a Pirastu, Nicola4 aut |
700 | 1 | a Kaprio, Jaakkou University of Helsinki (FI)4 aut |
700 | 1 | a Wareham, Nicholas Ju University of Cambridge4 aut |
700 | 1 | a Pérusse, Louisu Université Laval4 aut |
700 | 1 | a Wilson, James G4 aut |
700 | 1 | a Girotto, Giorgia4 aut |
700 | 1 | a Caulfield, Mark Ju Queen Mary University of London4 aut |
700 | 1 | a Raitakari, Olli4 aut |
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700 | 1 | a Gieger, Christianu Helmholtz Zentrum München-German Research Center for Environmental Health4 aut |
700 | 1 | a van der Harst, Pimu University of Groningen (NL)4 aut |
700 | 1 | a Hicks, Andrew A4 aut |
700 | 1 | a Kraft, Peter4 aut |
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700 | 1 | a Knekt, Paulu National Institute for Health and Welfare4 aut |
700 | 1 | a Johannesson, Magnusu Stockholm School of Economics,Handelshögskolan i Stockholm4 aut0 (Swepub:hhs)198@hhs.se |
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