WFRF:(Nicholas Jennifer M)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 17462naa a2204249 4500 | |
| 001 | oai:gup.ub.gu.se/133204 | |
| 003 | SwePub | |
| 008 | 240528s2010 | |||||||||||000 ||eng| | |
| 009 | oai:lup.lub.lu.se:a0a48c8c-e9ee-4ff1-8994-593966d1c5c1 | |
| 009 | oai:prod.swepub.kib.ki.se:121444497 | |
| 009 | oai:DiVA.org:uu-133899 | |
| 024 | 7 | a https://gup.ub.gu.se/publication/1332042 URI |
| 024 | 7 | a https://doi.org/10.1038/nature094102 DOI |
| 024 | 7 | a https://lup.lub.lu.se/record/17257392 URI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1214444972 URI |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1338992 URI |
| 040 | a (SwePub)gud (SwePub)lud (SwePub)kid (SwePub)uu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Lango Allen, Hana4 aut |
| 245 | 1 0 | a Hundreds of variants clustered in genomic loci and biological pathways affect human height. |
| 264 | c 2010-09-29 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2010 |
| 500 | a Group Author(s): Procardis Consortium | |
| 520 | a Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P<0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng |
| 653 | a Body Height | |
| 653 | a genetics | |
| 653 | a Chromosomes | |
| 653 | a Human | |
| 653 | a Pair 3 | |
| 653 | a genetics | |
| 653 | a Genetic Loci | |
| 653 | a genetics | |
| 653 | a Genetic Predisposition to Disease | |
| 653 | a genetics | |
| 653 | a Genome | |
| 653 | a Human | |
| 653 | a genetics | |
| 653 | a Genome-Wide Association Study | |
| 653 | a Humans | |
| 653 | a Metabolic Networks and Pathways | |
| 653 | a genetics | |
| 653 | a Multifactorial Inheritance | |
| 653 | a genetics | |
| 653 | a Phenotype | |
| 653 | a Polymorphism | |
| 653 | a Single Nucleotide | |
| 653 | a genetics | |
| 653 | a MEDICINE | |
| 653 | a NATURAL SCIENCES | |
| 700 | 1 | a Estrada, Karol4 aut |
| 700 | 1 | a Lettre, Guillaume4 aut |
| 700 | 1 | a Berndt, Sonja I4 aut |
| 700 | 1 | a Weedon, Michael N4 aut |
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| 700 | 1 | a Vernon Smith, Albert4 aut |
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| 700 | 1 | a Liang, Liming4 aut |
| 700 | 1 | a Heid, Iris M4 aut |
| 700 | 1 | a Luan, Jian'an4 aut |
| 700 | 1 | a Thorleifsson, Gudmar4 aut |
| 700 | 1 | a Winkler, Thomas W4 aut |
| 700 | 1 | a Goddard, Michael E4 aut |
| 700 | 1 | a Sin Lo, Ken4 aut |
| 700 | 1 | a Palmer, Cameron4 aut |
| 700 | 1 | a Workalemahu, Tsegaselassie4 aut |
| 700 | 1 | a Aulchenko, Yurii S4 aut |
| 700 | 1 | a Johansson, Åsau Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)asjoh108 |
| 700 | 1 | a Zillikens, M Carola4 aut |
| 700 | 1 | a Feitosa, Mary F4 aut |
| 700 | 1 | a Esko, Tõnu4 aut |
| 700 | 1 | a Johnson, Toby4 aut |
| 700 | 1 | a Ketkar, Shamika4 aut |
| 700 | 1 | a Kraft, Peter4 aut |
| 700 | 1 | a Mangino, Massimo4 aut |
| 700 | 1 | a Prokopenko, Inga4 aut |
| 700 | 1 | a Absher, Devin4 aut |
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| 700 | 1 | a Polasek, Ozren4 aut |
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| 700 | 1 | a Robertson, Neil R4 aut |
| 700 | 1 | a Steinthorsdottir, Valgerdur4 aut |
| 700 | 1 | a Tyrer, Jonathan P4 aut |
| 700 | 1 | a Voight, Benjamin F4 aut |
| 700 | 1 | a Wiklund, Fredriku Karolinska Institutet4 aut |
| 700 | 1 | a Xu, Jianfeng4 aut |
| 700 | 1 | a Hua Zhao, Jing4 aut |
| 700 | 1 | a Nyholt, Dale R4 aut |
| 700 | 1 | a Pellikka, Niina4 aut |
| 700 | 1 | a Perola, Markus4 aut |
| 700 | 1 | a Perry, John R B4 aut |
| 700 | 1 | a Surakka, Ida4 aut |
| 700 | 1 | a Tammesoo, Mari-Liis4 aut |
| 700 | 1 | a Altmaier, Elizabeth L4 aut |
| 700 | 1 | a Amin, Najaf4 aut |
| 700 | 1 | a Aspelund, Thor4 aut |
| 700 | 1 | a Bhangale, Tushar4 aut |
| 700 | 1 | a Boucher, Gabrielle4 aut |
| 700 | 1 | a Chasman, Daniel I4 aut |
| 700 | 1 | a Chen, Constance4 aut |
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| 700 | 1 | a Juhani Junttila, M4 aut |
| 700 | 1 | a Kaplan, Lee M4 aut |
| 700 | 1 | a Kettunen, Johannes4 aut |
| 700 | 1 | a König, Inke R4 aut |
| 700 | 1 | a Kwan, Tony4 aut |
| 700 | 1 | a Lawrence, Robert W4 aut |
| 700 | 1 | a Levinson, Douglas F4 aut |
| 700 | 1 | a Lorentzon, Mattias,d 1970u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin,Institute of Medicine, Department of Internal Medicine4 aut0 (Swepub:gu)xlomat |
| 700 | 1 | a McKnight, Barbara4 aut |
| 700 | 1 | a Morris, Andrew P4 aut |
| 700 | 1 | a Muller, Martina4 aut |
| 700 | 1 | a Suh Ngwa, Julius4 aut |
| 700 | 1 | a Purcell, Shaun4 aut |
| 700 | 1 | a Rafelt, Suzanne4 aut |
| 700 | 1 | a Salem, Rany M4 aut |
| 700 | 1 | a Salvi, Erika4 aut |
| 700 | 1 | a Sanna, Serena4 aut |
| 700 | 1 | a Shi, Jianxin4 aut |
| 700 | 1 | a Sovio, Ulla4 aut |
| 700 | 1 | a Thompson, John R4 aut |
| 700 | 1 | a Turchin, Michael C4 aut |
| 700 | 1 | a Vandenput, Liesbeth,d 1974u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin,Institute of Medicine, Department of Internal Medicine4 aut0 (Swepub:gu)xvanli |
| 700 | 1 | a Verlaan, Dominique J4 aut |
| 700 | 1 | a Vitart, Veronique4 aut |
| 700 | 1 | a White, Charles C4 aut |
| 700 | 1 | a Ziegler, Andreas4 aut |
| 700 | 1 | a Almgren, Peteru Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)endo-pal |
| 700 | 1 | a Balmforth, Anthony J4 aut |
| 700 | 1 | a Campbell, Harry4 aut |
| 700 | 1 | a Citterio, Lorena4 aut |
| 700 | 1 | a De Grandi, Alessandro4 aut |
| 700 | 1 | a Dominiczak, Anna4 aut |
| 700 | 1 | a Duan, Jubao4 aut |
| 700 | 1 | a Elliott, Paul4 aut |
| 700 | 1 | a Elosua, Roberto4 aut |
| 700 | 1 | a Eriksson, Johan G4 aut |
| 700 | 1 | a Freimer, Nelson B4 aut |
| 700 | 1 | a Geus, Eco J C4 aut |
| 700 | 1 | a Glorioso, Nicola4 aut |
| 700 | 1 | a Haiqing, Shen4 aut |
| 700 | 1 | a Hartikainen, Anna-Liisa4 aut |
| 700 | 1 | a Havulinna, Aki S4 aut |
| 700 | 1 | a Hicks, Andrew A4 aut |
| 700 | 1 | a Hui, Jennie4 aut |
| 700 | 1 | a Igl, Wilmaru Uppsala universitet,Institutionen för genetik och patologi4 aut |
| 700 | 1 | a Illig, Thomas4 aut |
| 700 | 1 | a Jula, Antti4 aut |
| 700 | 1 | a Kajantie, Eero4 aut |
| 700 | 1 | a Kilpeläinen, Tuomas O4 aut |
| 700 | 1 | a Koiranen, Markku4 aut |
| 700 | 1 | a Kolcic, Ivana4 aut |
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| 700 | 1 | a Kovacs, Peter4 aut |
| 700 | 1 | a Laitinen, Jaana4 aut |
| 700 | 1 | a Liu, Jianjun4 aut |
| 700 | 1 | a Lokki, Marja-Liisa4 aut |
| 700 | 1 | a Marusic, Ana4 aut |
| 700 | 1 | a Maschio, Andrea4 aut |
| 700 | 1 | a Meitinger, Thomas4 aut |
| 700 | 1 | a Mulas, Antonella4 aut |
| 700 | 1 | a Paré, Guillaume4 aut |
| 700 | 1 | a Parker, Alex N4 aut |
| 700 | 1 | a Peden, John F4 aut |
| 700 | 1 | a Petersmann, Astrid4 aut |
| 700 | 1 | a Pichler, Irene4 aut |
| 700 | 1 | a Pietiläinen, Kirsi Hu Karolinska Institutet4 aut |
| 700 | 1 | a Pouta, Anneli4 aut |
| 700 | 1 | a Ridderstråle, Martin4 aut |
| 700 | 1 | a Rotter, Jerome I4 aut |
| 700 | 1 | a Sambrook, Jennifer G4 aut |
| 700 | 1 | a Sanders, Alan R4 aut |
| 700 | 1 | a Oliver Schmidt, Carsten4 aut |
| 700 | 1 | a Sinisalo, Juha4 aut |
| 700 | 1 | a Smit, Jan H4 aut |
| 700 | 1 | a Stringham, Heather M4 aut |
| 700 | 1 | a Bragi Walters, G4 aut |
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| 700 | 1 | a Wild, Sarah H4 aut |
| 700 | 1 | a Willemsen, Gonneke4 aut |
| 700 | 1 | a Zagato, Laura4 aut |
| 700 | 1 | a Zgaga, Lina4 aut |
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| 700 | 1 | a Alavere, Helene4 aut |
| 700 | 1 | a Farrall, Martin4 aut |
| 700 | 1 | a McArdle, Wendy L4 aut |
| 700 | 1 | a Nelis, Mari4 aut |
| 700 | 1 | a Peters, Marjolein J4 aut |
| 700 | 1 | a Ripatti, Samuli4 aut |
| 700 | 1 | a van Meurs, Joyce B J4 aut |
| 700 | 1 | a Aben, Katja K4 aut |
| 700 | 1 | a Ardlie, Kristin G4 aut |
| 700 | 1 | a Beckmann, Jacques S4 aut |
| 700 | 1 | a Beilby, John P4 aut |
| 700 | 1 | a Bergman, Richard N4 aut |
| 700 | 1 | a Bergmann, Sven4 aut |
| 700 | 1 | a Collins, Francis S4 aut |
| 700 | 1 | a Cusi, Daniele4 aut |
| 700 | 1 | a den Heijer, Martin4 aut |
| 700 | 1 | a Eiriksdottir, Gudny4 aut |
| 700 | 1 | a Gejman, Pablo V4 aut |
| 700 | 1 | a Hall, Alistair S4 aut |
| 700 | 1 | a Hamsten, Andersu Karolinska Institutet4 aut |
| 700 | 1 | a Huikuri, Heikki V4 aut |
| 700 | 1 | a Iribarren, Carlos4 aut |
| 700 | 1 | a Kähönen, Mika4 aut |
| 700 | 1 | a Kaprio, Jaakko4 aut |
| 700 | 1 | a Kathiresan, Sekar4 aut |
| 700 | 1 | a Kiemeney, Lambertus4 aut |
| 700 | 1 | a Kocher, Thomas4 aut |
| 700 | 1 | a Launer, Lenore J4 aut |
| 700 | 1 | a Lehtimäki, Terho4 aut |
| 700 | 1 | a Melander, Olle4 aut |
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| 700 | 1 | a O'Donnell, Christopher J4 aut |
| 700 | 1 | a Ohlsson, Claes,d 1965u Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin, avdelningen för invärtesmedicin,Institute of Medicine, Department of Internal Medicine4 aut0 (Swepub:gu)xohlcl |
| 700 | 1 | a Oostra, Ben4 aut |
| 700 | 1 | a Palmer, Lyle J4 aut |
| 700 | 1 | a Raitakari, Olli4 aut |
| 700 | 1 | a Ridker, Paul M4 aut |
| 700 | 1 | a Rioux, John D4 aut |
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| 700 | 1 | a Tuomilehto, Jaakko4 aut |
| 700 | 1 | a van Ommen, Gert-Jan4 aut |
| 700 | 1 | a Viikari, Jorma4 aut |
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| 700 | 1 | a Hengstenberg, Christian4 aut |
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| 700 | 1 | a Mark Lathrop, G4 aut |
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| 700 | 1 | a Wright, Alan F4 aut |
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| 700 | 1 | a Barroso, Ines4 aut |
| 700 | 1 | a Hofman, Albert4 aut |
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| 700 | 1 | a Boomsma, Dorret I4 aut |
| 700 | 1 | a Caulfield, Mark J4 aut |
| 700 | 1 | a Adrienne Cupples, L4 aut |
| 700 | 1 | a Erdmann, Jeanette4 aut |
| 700 | 1 | a Fox, Caroline S4 aut |
| 700 | 1 | a Gudnason, Vilmundur4 aut |
| 700 | 1 | a Gyllensten, Ulfu Uppsala universitet,Institutionen för genetik och patologi4 aut0 (Swepub:uu)ulfgyll |
| 700 | 1 | a Harris, Tamara B4 aut |
| 700 | 1 | a Hayes, Richard B4 aut |
| 700 | 1 | a Jarvelin, Marjo-Riitta4 aut |
| 700 | 1 | a Mooser, Vincent4 aut |
| 700 | 1 | a Munroe, Patricia B4 aut |
| 700 | 1 | a Ouwehand, Willem H4 aut |
| 700 | 1 | a Penninx, Brenda W4 aut |
| 700 | 1 | a Pramstaller, Peter P4 aut |
| 700 | 1 | a Quertermous, Thomas4 aut |
| 700 | 1 | a Rudan, Igor4 aut |
| 700 | 1 | a Samani, Nilesh J4 aut |
| 700 | 1 | a Spector, Timothy D4 aut |
| 700 | 1 | a Völzke, Henry4 aut |
| 700 | 1 | a Watkins, Hugh4 aut |
| 700 | 1 | a Wilson, James F4 aut |
| 700 | 1 | a Groop, Leifu Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups4 aut0 (Swepub:lu)endo-lgr |
| 700 | 1 | a Haritunians, Talin4 aut |
| 700 | 1 | a Hu, Frank B4 aut |
| 700 | 1 | a Kaplan, Robert C4 aut |
| 700 | 1 | a Metspalu, Andres4 aut |
| 700 | 1 | a North, Kari E4 aut |
| 700 | 1 | a Schlessinger, David4 aut |
| 700 | 1 | a Wareham, Nicholas J4 aut |
| 700 | 1 | a Hunter, David J4 aut |
| 700 | 1 | a O'Connell, Jeffrey R4 aut |
| 700 | 1 | a Strachan, David P4 aut |
| 700 | 1 | a Wichmann, H-Erich4 aut |
| 700 | 1 | a Borecki, Ingrid B4 aut |
| 700 | 1 | a van Duijn, Cornelia M4 aut |
| 700 | 1 | a Schadt, Eric E4 aut |
| 700 | 1 | a Thorsteinsdottir, Unnur4 aut |
| 700 | 1 | a Peltonen, Leena4 aut |
| 700 | 1 | a Uitterlinden, Andre G4 aut |
| 700 | 1 | a Visscher, Peter M4 aut |
| 700 | 1 | a Chatterjee, Nilanjan4 aut |
| 700 | 1 | a Loos, Ruth J F4 aut |
| 700 | 1 | a Boehnke, Michael4 aut |
| 700 | 1 | a McCarthy, Mark I4 aut |
| 700 | 1 | a Ingelsson, Eriku Karolinska Institutet4 aut |
| 700 | 1 | a Lindgren, Cecilia M4 aut |
| 700 | 1 | a Abecasis, Gonçalo R4 aut |
| 700 | 1 | a Stefansson, Kari4 aut |
| 700 | 1 | a Frayling, Timothy M4 aut |
| 700 | 1 | a Hirschhorn, Joel N4 aut |
| 710 | 2 | a Uppsala universitetb Institutionen för genetik och patologi4 org |
| 773 | 0 | t Natured : Springer Science and Business Media LLCg 467:7317, s. 832-8q 467:7317<832-8x 1476-4687x 0028-0836 |
| 856 | 4 | u https://europepmc.org/articles/pmc2955183?pdf=render |
| 856 | 4 | u http://dx.doi.org/10.1038/nature09410y FULLTEXT |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/133204 |
| 856 | 4 8 | u https://doi.org/10.1038/nature09410 |
| 856 | 4 8 | u https://lup.lub.lu.se/record/1725739 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:121444497 |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-133899 |
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