Sökning: onr:"swepub:oai:lup.lub.lu.se:4af0d455-41fa-47be-ba6f-6397106760a5" > A common variant of...
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000 | 03966naa a2200661 4500 | |
001 | oai:lup.lub.lu.se:4af0d455-41fa-47be-ba6f-6397106760a5 | |
003 | SwePub | |
008 | 160401s2007 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/6559632 URI |
024 | 7 | a https://doi.org/10.1038/ng21212 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Weedon, Michael N.4 aut |
245 | 1 0 | a A common variant of HMGA2 is associated with adult and childhood height in the general population |
264 | c 2007-09-02 | |
264 | 1 | b Springer Science and Business Media LLC,c 2007 |
520 | a Human height is a classic, highly heritable quantitative trait. To begin to identify genetic variants influencing height, we examined genome-wide association data from 4,921 individuals. Common variants in the HMGA2 oncogene, exemplified by rs1042725, were associated with height (P= 4x10(-8)). HMGA2 is also a strong biological candidate for height, as rare, severe mutations in this gene alter body size in mice and humans, so we tested rs1042725 in additional samples. We confirmed the association in 19,064 adults from four further studies (P= 3x10(-11), overall P= 4x10(-16), including the genome-wide association data). We also observed the association in children (P=1x 10(-6), N= 6,827) and a tall/short case-control study (P= 4x10(-6), N=3,207). We estimate that rs1042725 explains similar to 0.3% of population variation in height (similar to 0.4 cm increased adult height per C allele). There are few examples of common genetic variants reproducibly associated with human quantitative traits; these results represent, to our knowledge, the first consistently replicated association with adult and childhood height. | |
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 |
700 | 1 | a Lettre, Guillaume4 aut |
700 | 1 | a Freathy, Rachel M.4 aut |
700 | 1 | a Lindgren, Cecilia M.4 aut |
700 | 1 | a Voight, Benjamin F.4 aut |
700 | 1 | a Perry, John R. B.4 aut |
700 | 1 | a Elliott, Katherine S.4 aut |
700 | 1 | a Hackett, Rachel4 aut |
700 | 1 | a Guiducci, Candace4 aut |
700 | 1 | a Shields, Beverley4 aut |
700 | 1 | a Zeggini, Eleftheria4 aut |
700 | 1 | a Lango, Hana4 aut |
700 | 1 | a Lyssenko, Valeriya4 aut |
700 | 1 | a Timpson, Nicholas J.4 aut |
700 | 1 | a Burtt, Noel P.4 aut |
700 | 1 | a Rayner, Nigel W.4 aut |
700 | 1 | a Saxena, Richa4 aut |
700 | 1 | a Ardlie, Kristin4 aut |
700 | 1 | a Tobias, Jonathan H.4 aut |
700 | 1 | a Ness, Andrew R.4 aut |
700 | 1 | a Ring, Susan M.4 aut |
700 | 1 | a Palmer, Colin N. A.4 aut |
700 | 1 | a Morris, Andrew D.4 aut |
700 | 1 | a Peltonen, Leena4 aut |
700 | 1 | a Salomaa, Veikko4 aut |
700 | 1 | a Smith, George Davey4 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 Hattersley, Andrew T.4 aut |
700 | 1 | a McCarthy, Mark I.4 aut |
700 | 1 | a Hirschhorn, Joel N.4 aut |
700 | 1 | a Frayling, Timothy M.4 aut |
710 | 2 | a Genomik, diabetes och endokrinologib Forskargrupper vid Lunds universitet4 org |
773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg 39:10, s. 1245-1250q 39:10<1245-1250x 1546-1718x 1061-4036 |
856 | 4 | u http://dx.doi.org/10.1038/ng2121y FULLTEXT |
856 | 4 | u https://www.pure.ed.ac.uk/ws/files/17154591/A_common_variant_of_HMGA2_is_associated_with_adult_and_childhood_height_in_the_general_population.pdf |
856 | 4 8 | u https://lup.lub.lu.se/record/655963 |
856 | 4 8 | u https://doi.org/10.1038/ng2121 |
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