Sökning: onr:"swepub:oai:DiVA.org:umu-109458" > Rare coding variant...
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000 | 08228naa a2201837 4500 | |
001 | oai:DiVA.org:umu-109458 | |
003 | SwePub | |
008 | 150928s2015 | |||||||||||000 ||eng| | |
009 | oai:lup.lub.lu.se:06e04520-0536-4bda-ac54-91521c73a325 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1094582 URI |
024 | 7 | a https://doi.org/10.1038/ncomms87562 DOI |
024 | 7 | a https://lup.lub.lu.se/record/79689952 URI |
040 | a (SwePub)umud (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Lunetta, Kathryn L.4 aut |
245 | 1 0 | a Rare coding variants and X-linked loci associated with age at menarche |
264 | c 2015-08-04 | |
264 | 1 | b Springer Science and Business Media LLC,c 2015 |
338 | a electronic2 rdacarrier | |
520 | a More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only similar to 3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency proteincoding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1/LAMB2/TNRC6A/TACR3/PRKAG1) are associated with age at menarche (minor allele frequencies 0.08-4.6%; effect sizes 0.08-1.25 years per allele; P<5 x 10(-8)). In addition, we identify common X-chromosome loci at IGSF1 (rs762080, P = 9.4 x 10(-13)) and FAAH2 (rs5914101, P = 4.9 x 10(-10)). Highlighted genes implicate cellular energy homeostasis, post-transcriptional gene silencing and fatty-acid amide signalling. A frequently reported mutation in TACR3 for idiopathic hypogonatrophic hypogonadism (p.W275X) is associated with 1.25-year-later menarche (P = 2.8 x 10(-11)), illustrating the utility of population studies to estimate the penetrance of reportedly pathogenic mutations. Collectively, these novel variants explain similar to 0.5% variance, indicating that these overlooked sources of variation do not substantially explain the 'missing heritability' of this complex trait. | |
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 |
700 | 1 | a Day, Felix R.4 aut |
700 | 1 | a Sulem, Patrick4 aut |
700 | 1 | a Ruth, Katherine S.4 aut |
700 | 1 | a Tung, Joyce Y.4 aut |
700 | 1 | a Hinds, David A.4 aut |
700 | 1 | a Esko, Tonu4 aut |
700 | 1 | a Elks, Cathy E.4 aut |
700 | 1 | a Altmaier, Elisabeth4 aut |
700 | 1 | a He, Chunyan4 aut |
700 | 1 | a Huffman, Jennifer E.4 aut |
700 | 1 | a Mihailov, Evelin4 aut |
700 | 1 | a Porcu, Eleonora4 aut |
700 | 1 | a Robino, Antonietta4 aut |
700 | 1 | a Rose, Lynda M.4 aut |
700 | 1 | a Schick, Ursula M.4 aut |
700 | 1 | a Stolk, Lisette4 aut |
700 | 1 | a Teumer, Alexander4 aut |
700 | 1 | a Thompson, Deborah J.4 aut |
700 | 1 | a Traglia, Michela4 aut |
700 | 1 | a Wang, Carol A.4 aut |
700 | 1 | a Yerges-Armstrong, Laura M.4 aut |
700 | 1 | a Antoniou, Antonis C.4 aut |
700 | 1 | a Barbieri, Caterina4 aut |
700 | 1 | a Coviello, Andrea D.4 aut |
700 | 1 | a Cucca, Francesco4 aut |
700 | 1 | a Demerath, Ellen W.4 aut |
700 | 1 | a Dunning, Alison M.4 aut |
700 | 1 | a Gandin, Ilaria4 aut |
700 | 1 | a Grove, Megan L.4 aut |
700 | 1 | a Gudbjartsson, Daniel F.4 aut |
700 | 1 | a Hocking, Lynne J.4 aut |
700 | 1 | a Hofman, Albert4 aut |
700 | 1 | a Huang, Jinyan4 aut |
700 | 1 | a Jackson, Rebecca D.4 aut |
700 | 1 | a Karasik, David4 aut |
700 | 1 | a Kriebel, Jennifer4 aut |
700 | 1 | a Lange, Ethan M.4 aut |
700 | 1 | a Lange, Leslie A.4 aut |
700 | 1 | a Langenberg, Claudia4 aut |
700 | 1 | a Li, Xin4 aut |
700 | 1 | a Luan, Jian'an4 aut |
700 | 1 | a Maegi, Reedik4 aut |
700 | 1 | a Morrison, Alanna C.4 aut |
700 | 1 | a Padmanabhan, Sandosh4 aut |
700 | 1 | a Pirie, Ailith4 aut |
700 | 1 | a Polasek, Ozren4 aut |
700 | 1 | a Porteous, David4 aut |
700 | 1 | a Reiner, Alex P.4 aut |
700 | 1 | a Rivadeneira, Fernando4 aut |
700 | 1 | a Rudan, Igor4 aut |
700 | 1 | a Sala, Cinzia F.4 aut |
700 | 1 | a Schlessinger, David4 aut |
700 | 1 | a Scott, Robert A.4 aut |
700 | 1 | a Stoeckl, Doris4 aut |
700 | 1 | a Visser, Jenny A.4 aut |
700 | 1 | a Voelker, Uwe4 aut |
700 | 1 | a Vozzi, Diego4 aut |
700 | 1 | a Wilson, James G.4 aut |
700 | 1 | a Zygmunt, Marek4 aut |
700 | 1 | a Boerwinkle, Eric4 aut |
700 | 1 | a Buring, Julie E.4 aut |
700 | 1 | a Crisponi, Laura4 aut |
700 | 1 | a Easton, Douglas F.4 aut |
700 | 1 | a Hayward, Caroline4 aut |
700 | 1 | a Hu, Frank B.4 aut |
700 | 1 | a Liu, Simin4 aut |
700 | 1 | a Metspalu, Andres4 aut |
700 | 1 | a Pennell, Craig E.4 aut |
700 | 1 | a Ridker, Paul M.4 aut |
700 | 1 | a Strauch, Konstantin4 aut |
700 | 1 | a Streeten, Elizabeth A.4 aut |
700 | 1 | a Toniolo, Daniela4 aut |
700 | 1 | a Uitterlinden, Andre G.4 aut |
700 | 1 | a Ulivi, Sheila4 aut |
700 | 1 | a Voelzke, Henry4 aut |
700 | 1 | a Wareham, Nicholas J.4 aut |
700 | 1 | a Wellons, Melissa4 aut |
700 | 1 | a Franceschini, Nora4 aut |
700 | 1 | a Chasman, Daniel I.4 aut |
700 | 1 | a Thorsteinsdottir, Unnur4 aut |
700 | 1 | a Murray, Anna4 aut |
700 | 1 | a Stefansson, Kari4 aut |
700 | 1 | a Murabito, Joanne M.4 aut |
700 | 1 | a Ong, Ken K.4 aut |
700 | 1 | a Perry, John R. B.4 aut |
700 | 1 | a Forouhi, Nita G.4 aut |
700 | 1 | a Kerrison, Nicola D.4 aut |
700 | 1 | a Sharp, Stephen J.4 aut |
700 | 1 | a Sims, Matt4 aut |
700 | 1 | a Barroso, Ines4 aut |
700 | 1 | a Deloukas, Panos4 aut |
700 | 1 | a McCarthy, Mark I.4 aut |
700 | 1 | a Arriola, Larraitz4 aut |
700 | 1 | a Balkau, Beverley4 aut |
700 | 1 | a Barricarte, Aurelio4 aut |
700 | 1 | a Boeing, Heiner4 aut |
700 | 1 | a Franks, Paul W.u Umeå University,Lund University,Lunds universitet,Umeå universitet,Medicin,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-plf |
700 | 1 | a Gonzalez, Carlos4 aut |
700 | 1 | a Grioni, Sara4 aut |
700 | 1 | a Kaaks, Rudolf4 aut |
700 | 1 | a Key, Timothy J.4 aut |
700 | 1 | a Navarro, Carmen4 aut |
700 | 1 | a Nilsson, Peteru Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)medf-pni |
700 | 1 | a Overvad, Kim4 aut |
700 | 1 | a Palli, Domenico4 aut |
700 | 1 | a Panico, Salvatore4 aut |
700 | 1 | a Ramon Quiros, J.4 aut |
700 | 1 | a Rolandsson, Olovu Umeå universitet,Allmänmedicin4 aut0 (Swepub:umu)olro0005 |
700 | 1 | a Sacerdote, Carlotta4 aut |
700 | 1 | a Sanchez, Maria-Jose4 aut |
700 | 1 | a Slimani, Nadia4 aut |
700 | 1 | a Tjonneland, Anne4 aut |
700 | 1 | a Tumino, Rosario4 aut |
700 | 1 | a van der A, Daphne L.4 aut |
700 | 1 | a van der Schouw, Yvonne T.4 aut |
700 | 1 | a Riboli, Elio4 aut |
700 | 1 | a Smith, Blair H.4 aut |
700 | 1 | a Campbell, Archie4 aut |
700 | 1 | a Deary, Ian J.4 aut |
700 | 1 | a McIntosh, Andrew M.4 aut |
710 | 2 | a Umeå universitetb Medicin4 org |
773 | 0 | t Nature Communicationsd : Springer Science and Business Media LLCg 6q 6x 2041-1723 |
856 | 4 | u https://doi.org/10.1038/ncomms8756y Fulltext |
856 | 4 | u https://umu.diva-portal.org/smash/get/diva2:859678/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://www.nature.com/articles/ncomms8756.pdf |
856 | 4 | u http://dx.doi.org/10.1038/ncomms8756x freey FULLTEXT |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-109458 |
856 | 4 8 | u https://doi.org/10.1038/ncomms8756 |
856 | 4 8 | u https://lup.lub.lu.se/record/7968995 |
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