Sökning: WFRF:(Murabito Joanne M) > (2015-2019) > Rare coding variant...
Fältnamn | Indikatorer | Metadata |
---|---|---|
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 |
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
Kopiera och spara länken för att återkomma till aktuell vy