Evidence of inbreeding depression on human height (Articolo in rivista)

Type
Label
  • Evidence of inbreeding depression on human height (Articolo in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (literal)
Alternative label
  • McQuillan R, Eklund N, Pirastu N, Kuningas M, McEvoy BP, Esko T, Corre T, Davies G, Kaakinen M, Lyytikainen LP, Kristiansson K, Havulinna AS, Gögele M, Vitart V, Tenesa A, Aulchenko Y, Hayward C, Johansson A, Boban M, Ulivi S, Robino A, Boraska V, Igl W, Wild SH, Zgaga L, Amin N, Theodoratou E, Pola?ek O, Girotto G, Lopez LM, Sala C, Lahti J, Laatikainen T, Prokopenko I, Kals M, Viikari J, Yang J, Pouta A, Estrada K, Hofman A, Freimer N, Martin NG, Kahonen M, Milani L, Heliövaara M, Vartiainen E, Räikkönen K, Masciullo C, Starr JM, Hicks AA, Esposito L, Kolcic I, Farrington SM, Oostra B, Zemunik T, Campbell H, Kirin M, Pehlic M, Faletra F, Porteous D, Pistis G, Widen E, Salomaa V, Koskinen S, Fischer K, Lehtimäki T, Heath A, McCarthy MI, Rivadeneira F, Montgomery GW, Tiemeier H, Hartikainen AL, Madden PA, d'Adamo P, Hastie ND, Gyllensten U, Wright AF, van Duijn CM, Dunlop M, Rudan I, Gasparini P, Pramstaller PP, Deary IJ, Toniolo D, Eriksson JG, Jula A, Raitakari OT, Metspalu A, Perola M, Jarvelin MR, Uitterlinden A, Visscher PM, Wilson JF; ROHgen Consortium. (2012)
    Evidence of inbreeding depression on human height
    in PLOS genetics
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • McQuillan R, Eklund N, Pirastu N, Kuningas M, McEvoy BP, Esko T, Corre T, Davies G, Kaakinen M, Lyytikainen LP, Kristiansson K, Havulinna AS, Gögele M, Vitart V, Tenesa A, Aulchenko Y, Hayward C, Johansson A, Boban M, Ulivi S, Robino A, Boraska V, Igl W, Wild SH, Zgaga L, Amin N, Theodoratou E, Pola?ek O, Girotto G, Lopez LM, Sala C, Lahti J, Laatikainen T, Prokopenko I, Kals M, Viikari J, Yang J, Pouta A, Estrada K, Hofman A, Freimer N, Martin NG, Kahonen M, Milani L, Heliövaara M, Vartiainen E, Räikkönen K, Masciullo C, Starr JM, Hicks AA, Esposito L, Kolcic I, Farrington SM, Oostra B, Zemunik T, Campbell H, Kirin M, Pehlic M, Faletra F, Porteous D, Pistis G, Widen E, Salomaa V, Koskinen S, Fischer K, Lehtimäki T, Heath A, McCarthy MI, Rivadeneira F, Montgomery GW, Tiemeier H, Hartikainen AL, Madden PA, d'Adamo P, Hastie ND, Gyllensten U, Wright AF, van Duijn CM, Dunlop M, Rudan I, Gasparini P, Pramstaller PP, Deary IJ, Toniolo D, Eriksson JG, Jula A, Raitakari OT, Metspalu A, Perola M, Jarvelin MR, Uitterlinden A, Visscher PM, Wilson JF; ROHgen Consortium. (literal)
Pagina inizio
  • e1002655 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002655 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 8 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 7 (literal)
Note
  • Scopu (literal)
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Unit of General Practice, Helsinki University Central Hospital, Helsinki, Finland; Centre for Global Health, University of Split, Split, Croatia; Department of Immunology, Genetics and Pathology, SciLifeLab Uppsala, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden; UCLA Center for Neurobehavioral Genetics, University of California Los Angeles, Los Angeles, California, USA; Netherlands Genomics Initiative (NGI)-sponsored Netherlands Consortium for Healthy Aging (NCHA), Leiden, The Netherlands; Biocenter Oulu, University of Oulu, Oulu, Finland; Department of Biology, Faculty of Medicine, University of Split, Split, Croatia; Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands; Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland, UK; Folkhälsan Research Center, Helsinki, Finland; National Institute for Health and Welfare, Oulu, Finland; Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku, Finland; Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, California, USA; Genetic Epidemiology Unit, Department of Epidemiology, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Geriatric Medicine Unit, University of Edinburgh, Royal Victoria Hospital, Edinburgh, Scotland, UK; Division of Genetics and Cell Biology, San Raffaele Research Institute, Milano, Italy; Department of Public Health, Faculty of Medicine, University of Split, Split, Croatia; Department of Clinical Chemistry, University of Tampere School of Medicine, Tampere, Finland; Institute of Health Sciences, University of Oulu, Oulu, Finland; Department of Chronic Disease Prevention, National Institute for Health and Welfare, Helsinki, Finland; Estonian Genome Center, University of Tartu, Tartu, Estonia; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK; Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, Edinburgh, Scotland, UK; Department of Health and Functional Capacity, National Public Health Institute-Helsinki and Turku, Turku, Finland; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, Scotland, UK, Department of Neurology, General Central Hospital, Bolzano, Italy; Institute of Clinical Medicine/Obstetrics and Gynecology, University of Oulu, Oulu, Finland; Queensland Institute of Medical Research, Brisbane, Queensland, Australia; Department of General Practice and Primary Health Care, University of Helsinki, Helsinki, Finland; Oxford Centre for Diabetes, Endocrinology, and Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford, UK; Uppsala Clinical Research, Uppsala University, Uppsala, Sweden; Department of Medicine, University of Turku, Turku, Finland; Department of Psychology, University of Edinburgh, Edinburgh, Scotland, UK; Department of Neurology, University of Lübeck, Lübeck, Germany; Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia; Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands; Genetic Epidemiology Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands; Department of Health and Functional Capacity, National Public Health Institute, Helsinki, Finland; Division of Welfare and Health Promotion, National Institute for Health and Welfare, Helsinki, Finland; Department of Pharmacology, Faculty of Medicine, University of Split, Split, Croatia; Institute for Maternal and Child Health, IRCCS \"Burlo Garofolo,\" University of Trieste, Trieste, Italy; Department of Clinical Physiology, Turku University Hospital, Turku, Finland; Department of Psychiatry, Washington University St. Louis, Missouri, USA; Department of Clinical Chemistry, Tampere University Hospital, Tampere, Finland; Medical Genetics Section, The University of Edinburgh Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, Scotland, UK; The Roslin Institute, University of Edinburgh, Easter Bush, Midlothian, Scotland, UK; Institute of Molecular Genetics-CNR, Pavia, Italy; Department of Medicine, Turku University Hospital, Turku, Finland; Department of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Headington, Oxford, UK; Andrija Stampar School of Public Health, Medical School, University of Zagreb, Zagreb, Croatia; Institute of Behavioural Sciences, University of Helsinki, Helsinki, Finland; CBM scrl - Genomics, Area Science Park, Basovizza, Trieste, Italy; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, UK; Centre for Population Health Sciences, University of Edinburgh, Edinburgh, Scotland, UK; Centre for Biomedicine, European Academy Bozen/Bolzano (EURAC), Bolzano, Italy; Department of Clinical Physiology, University of Tampere School of Medicine, Tampere, Finland; Institute for Molecular Medicine Finland (FIMM), Helsinki, Finland; Department of Clinical Physiology, Tampere University Hospital, Tampere, Finland; Institute for Maternal and Child Health, IRCCS \"Burlo Garofolo,\" Trieste, Italy (literal)
Titolo
  • Evidence of inbreeding depression on human height (literal)
Abstract
  • Stature is a classical and highly heritable complex trait, with 80%-90% of variation explained by genetic factors. In recent years, genome-wide association studies (GWAS) have successfully identified many common additive variants influencing human height; however, little attention has been given to the potential role of recessive genetic effects. Here, we investigated genome-wide recessive effects by an analysis of inbreeding depression on adult height in over 35,000 people from 21 different population samples. We found a highly significant inverse association between height and genome-wide homozygosity, equivalent to a height reduction of up to 3 cm in the offspring of first cousins compared with the offspring of unrelated individuals, an effect which remained after controlling for the effects of socio-economic status, an important confounder (chi(2) = 83.89, df = 1; p = 5.2 × 10(-20)). There was, however, a high degree of heterogeneity among populations: whereas the direction of the effect was consistent across most population samples, the effect size differed significantly among populations. It is likely that this reflects true biological heterogeneity: whether or not an effect can be observed will depend on both the variance in homozygosity in the population and the chance inheritance of individual recessive genotypes. These results predict that multiple, rare, recessive variants influence human height. Although this exploratory work focuses on height alone, the methodology developed is generally applicable to heritable quantitative traits (QT), paving the way for an investigation into inbreeding effects, and therefore genetic architecture, on a range of QT of biomedical importance. (literal)
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