Sökning: WFRF:(Rissanen Aila) > Hundreds of variant...
Fältnamn | Indikatorer | Metadata |
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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 | |
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700 | 1 | a Haritunians, Talin4 aut |
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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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