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7 p, 299.7 KB Rare coding variants and X-linked loci associated with age at menarche / Lunetta, Kathryn L. (Boston University School of Public Health (Estats Units d'Amèrica)) ; Day, Felix R. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Sulem, Patrick (deCode genetics (Reykjavik, Islàndia)) ; Ruth, Katherine S. (University of Exeter. Medical School (Gran Bretanya)) ; Tung, Joyce Y. (23andMe (California, Estats Units d'Amèrica)) ; Hinds, David A. (23andMe (California, Estats Units d'Amèrica)) ; Esko, Tonu (University of Tartu. Estonian Genome Center (Estònia)) ; Elks, Cathy E. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Altmaier, Elisabeth (Helmholtz Zentrum München (Alemanya)) ; He, Chunyan (Fairbanks School of Public Health (Indianapolis, Estats Units d'Amèrica)) ; Huffman, Jennifer E. (University of Edinburgh. Institute of Genetics and Molecular Medicine (Gran Bretanya)) ; Mihailov, Evelin (University of Tartu. Estonian Genome Center (Estònia)) ; Porcu, Eleonora (Institute of Genetics and Biomedical Research (Sardinia, Itàlia)) ; Robino, Antonietta (Institute for Maternal and Child Health (Trieste, Itàlia)) ; Rose, Lynda M. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Schick, Ursula M. (Fred Hutchinson Cancer Research Center (Seattle, Estats Units d'Amèrica)) ; Stolk, Lisette (Erasmus University Rotterdam) ; Teumer, Alexander (University Medicine Greifswald (Alemanya)) ; Thompson, Deborah J. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Traglia, Michela (San Raffaele Scientific Institute (Milà, Itàlia)) ; Wang, Carol A. (University of Western Australia. School of Women's and Infants' Health (Crawley, Austràlia)) ; Yerges-Armstrong, Laura M. (University of Maryland School of Medicine (Estats Units d'Amèrica)) ; Antoniou, Antonis C. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Barbieri, Caterina (San Raffaele Scientific Institute (Milà, Itàlia)) ; Coviello, Andrea D. (Boston University School of Medicine (Estats Units d'Amèrica)) ; Cucca, Francesco (Institute of Genetics and Biomedical Research (Sardinia, Itàlia)) ; Demerath, Ellen W. (University of Minnesota (Minneapolis, Estats Units d'Amèrica)) ; Dunning, Alison M. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Gandin, Ilaria (Institute for Maternal and Child Health (Trieste, Itàlia)) ; Grove, Megan L. (University of Texas Health Science Center at Houston (Estats Units d'Amèrica)) ; Gudbjartsson, Daniel F. (deCode genetics (Reykjavik, Islàndia)) ; Hocking, Lynne J. (University of Aberdeen (Regne Unit)) ; Hofman, Albert (Erasmus MC (Rotterdam, Paisos Baixos)) ; Huang, Jinyan (Shanghai Jiao Tong University School of Medicine) ; Jackson, Rebecca D. (The Ohio State University (Estats Units d'Amèrica)) ; Karasik, David (Harvard Medical School (Boston, Estats Units d'Amèrica)) ; Kriebel, Jennifer (Helmholtz Zentrum München (Alemanya)) ; Lange, Ethan M. (University of North Carolina. Department of Genetics (Estats Units d'Amèrica)) ; Lange, Leslie A. (University of North Carolina. Department of Genetics (Estats Units d'Amèrica)) ; Langenberg, Claudia (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Li, Xin (Harvard T.H. Chan School of Public Health (Boston, Estats Units d'Amèrica)) ; Luan, Jian’an (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Mägi, Reedik (University of Tartu. Estonian Genome Center (Estònia)) ; Morrison, Alanna C. (University of Texas Health Science Center at Houston (Estats Units d'Amèrica)) ; Padmanabhan, Sandosh (University of Glasgow. Institute of Cardiovascular and Medical Sciences (Gran Bretanya)) ; Pirie, Ailith (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Polasek, Ozren (University of Split. School of Medicine (Croàcia)) ; Porteous, David (University of Edinburgh.Institute of Genetics and Molecular Medicine (Gran Bretanya)) ; Reiner, Alex P. (Fred Hutchinson Cancer Research Center (Seattle, Estats Units d'Amèrica)) ; Rivadeneira, Fernando (Erasmus University Rotterdam) ; Rudan, Igor (University of Edinburgh. Institute for Population Health Sciences and Informatics (Gran Bretanya)) ; Sala, Cinzia F. (San Raffaele Scientific Institute (Milà, Itàlia)) ; Schlessinger, David (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ; Scott, Robert A. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Stöckl, Doris (German Research Center for Environmental Health (Neuherberg, Alemanya)) ; Visser, J. (Erasmus University Rotterdam) ; Völker, Uwe (Greifswald Medical School (Alemanya)) ; Vozzi, Diego (Institute for Maternal and Child Health (Trieste, Itàlia)) ; Wilson, James G. (University of Mississippi. Department of Physiology and Biophysics (Estats Units d'Amèrica)) ; Zygmunt, Marek (Greifswald Medical School (Alemanya)) ; Boerwinkle, Eric (University of Texas Health Science Center at Houston (Estats Units d'Amèrica)) ; Buring, Julie E. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Crisponi, Laura (Institute of Genetics and Biomedical Research (Sardinia, Itàlia)) ; Easton, Douglas F. (University of Cambridge. Centre for Cancer Genetic Epidemiology) ; Hayward, Caroline (University of Edinburgh. Institute of Genetics and Molecular Medicine (Gran Bretanya)) ; Hu, Frank B. (Harvard Medical School (Boston, Estats Units d'Amèrica)) ; Liu, Simin (Brown University. Departments of Epidemiology and Medicine (Providence, Estats Units d'Amèrica)) ; Metspalu, Andres (University of Tartu. Estonian Genome Center (Estònia)) ; Pennell, Craig E. (University of Western Australia. School of Women's and Infants' Health (Crawley, Austràlia)) ; Ridker, Paul M. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Strauch, Konstantin (German Research Center for Environmental Health (Neuherberg, Alemanya)) ; Streeten, Elizabeth A. (University of Maryland School of Medicine (Estats Units d'Amèrica)) ; Toniolo, Daniela (San Raffaele Scientific Institute (Milà, Itàlia)) ; Uitterlinden, André G. (Erasmus University Rotterdam) ; Ulivi, Sheila (Institute for Maternal and Child Health (Trieste, Itàlia)) ; Völzke, Henry (University Medicine Greifswald (Alemanya)) ; Wareham, Nicholas J. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Wellons, Melissa (Vanderbilt University Medical Center (Nashville, Estats Units d'Amèrica)) ; Franceschini, Nora (University of North Carolina. Department of Epidemiology (Estats Units d'Amèrica)) ; Chasman, Daniel I. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; Thorsteinsdottir, Unnur (deCode genetics (Reykjavik, Islàndia)) ; Murray, Anna (University of Exeter. Medical School (Gran Bretanya)) ; Stefansson, Kari (deCode genetics (Reykjavik, Islàndia)) ; Murabito, Joanne M. (National Heart, Lung, and Blood Institute (Framingham, Estats Units d'Amèrica)) ; Ong, Ken K. (University of Cambridge. School of Clinical Medicine (Gran Bretanya)) ; Perry, John R.B. (University of Cambridge. School of Clinical Medicine (Gran Bretanya))
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. [...]
2015 - 10.1038/ncomms8756
Nature communications, Vol. 4 Núm. 6 (august 2015)  

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