<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Pinart, Mariona</style></author><author><style face="normal" font="default" size="100%">Nimptsch, Katharina</style></author><author><style face="normal" font="default" size="100%">Bouwman, Jildau</style></author><author><style face="normal" font="default" size="100%">Dragsted, Lars O</style></author><author><style face="normal" font="default" size="100%">Yang, Chen</style></author><author><style face="normal" font="default" size="100%">De Cock, Nathalie</style></author><author><style face="normal" font="default" size="100%">Lachat, Carl</style></author><author><style face="normal" font="default" size="100%">Perozzi, Giuditta</style></author><author><style face="normal" font="default" size="100%">Canali, Raffaella</style></author><author><style face="normal" font="default" size="100%">Lombardo, Rosario</style></author><author><style face="normal" font="default" size="100%">D'Archivio, Massimo</style></author><author><style face="normal" font="default" size="100%">Guillaume, Michèle</style></author><author><style face="normal" font="default" size="100%">Donneau, Anne-Françoise</style></author><author><style face="normal" font="default" size="100%">Jeran, Stephanie</style></author><author><style face="normal" font="default" size="100%">Linseisen, Jakob</style></author><author><style face="normal" font="default" size="100%">Kleiser, Christina</style></author><author><style face="normal" font="default" size="100%">Nöthlings, Ute</style></author><author><style face="normal" font="default" size="100%">Barbaresko, Janett</style></author><author><style face="normal" font="default" size="100%">Boeing, Heiner</style></author><author><style face="normal" font="default" size="100%">Stelmach-Mardas, Marta</style></author><author><style face="normal" font="default" size="100%">Heuer, Thorsten</style></author><author><style face="normal" font="default" size="100%">Laird, Eamon</style></author><author><style face="normal" font="default" size="100%">Walton, Janette</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author><author><style face="normal" font="default" size="100%">Castaño, Luis</style></author><author><style face="normal" font="default" size="100%">Rojo-Martínez, Gemma</style></author><author><style face="normal" font="default" size="100%">Merino, Jordi</style></author><author><style face="normal" font="default" size="100%">Masana, Luis</style></author><author><style face="normal" font="default" size="100%">Standl, Marie</style></author><author><style face="normal" font="default" size="100%">Schulz, Holger</style></author><author><style face="normal" font="default" size="100%">Biagi, Elena</style></author><author><style face="normal" font="default" size="100%">Nurk, Eha</style></author><author><style face="normal" font="default" size="100%">Matthys, Christophe</style></author><author><style face="normal" font="default" size="100%">Gobbetti, Marco</style></author><author><style face="normal" font="default" size="100%">de Angelis, Maria</style></author><author><style face="normal" font="default" size="100%">Windler, Eberhard</style></author><author><style face="normal" font="default" size="100%">Zyriax, Birgit-Christiane</style></author><author><style face="normal" font="default" size="100%">Tafforeau, Jean</style></author><author><style face="normal" font="default" size="100%">Pischon, Tobias</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Joint Data Analysis in Nutritional Epidemiology: Identification of Observational Studies and Minimal Requirements.</style></title><secondary-title><style face="normal" font="default" size="100%">J Nutr</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J. Nutr.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Biomarkers</style></keyword><keyword><style  face="normal" font="default" size="100%">Blood Glucose</style></keyword><keyword><style  face="normal" font="default" size="100%">Case-Control Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Chronic Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Cross-Sectional Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Diet</style></keyword><keyword><style  face="normal" font="default" size="100%">Epidemiology</style></keyword><keyword><style  face="normal" font="default" size="100%">Europe</style></keyword><keyword><style  face="normal" font="default" size="100%">Genomics</style></keyword><keyword><style  face="normal" font="default" size="100%">Health Status</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Inflammation</style></keyword><keyword><style  face="normal" font="default" size="100%">Insulin</style></keyword><keyword><style  face="normal" font="default" size="100%">Life Style</style></keyword><keyword><style  face="normal" font="default" size="100%">Lipoproteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Longitudinal Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Metabolomics</style></keyword><keyword><style  face="normal" font="default" size="100%">Nutritional Status</style></keyword><keyword><style  face="normal" font="default" size="100%">Observational Studies as Topic</style></keyword><keyword><style  face="normal" font="default" size="100%">Statistics as Topic</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2018</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2018 02 01</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">148</style></volume><pages><style face="normal" font="default" size="100%">285-297</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;Background: &lt;/b&gt;Joint data analysis from multiple nutrition studies may improve the ability to answer complex questions regarding the role of nutritional status and diet in health and disease.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Objective: &lt;/b&gt;The objective was to identify nutritional observational studies from partners participating in the European Nutritional Phenotype Assessment and Data Sharing Initiative (ENPADASI) Consortium, as well as minimal requirements for joint data analysis.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Methods: &lt;/b&gt;A predefined template containing information on study design, exposure measurements (dietary intake, alcohol and tobacco consumption, physical activity, sedentary behavior, anthropometric measures, and sociodemographic and health status), main health-related outcomes, and laboratory measurements (traditional and omics biomarkers) was developed and circulated to those European research groups participating in the ENPADASI under the strategic research area of &quot;diet-related chronic diseases.&quot; Information about raw data disposition and metadata sharing was requested. A set of minimal requirements was abstracted from the gathered information.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Results: &lt;/b&gt;Studies (12 cohort, 12 cross-sectional, and 2 case-control) were identified. Two studies recruited children only and the rest recruited adults. All studies included dietary intake data. Twenty studies collected blood samples. Data on traditional biomarkers were available for 20 studies, of which 17 measured lipoproteins, glucose, and insulin and 13 measured inflammatory biomarkers. Metabolomics, proteomics, and genomics or transcriptomics data were available in 5, 3, and 12 studies, respectively. Although the study authors were willing to share metadata, most refused, were hesitant, or had legal or ethical issues related to sharing raw data. Forty-one descriptors of minimal requirements for the study data were identified to facilitate data integration.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Conclusions: &lt;/b&gt;Combining study data sets will enable sufficiently powered, refined investigations to increase the knowledge and understanding of the relation between food, nutrition, and human health. Furthermore, the minimal requirements for study data may encourage more efficient secondary usage of existing data and provide sufficient information for researchers to draft future multicenter research proposals in nutrition.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">2</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/29490094?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Marouli, Eirini</style></author><author><style face="normal" font="default" size="100%">Graff, Mariaelisa</style></author><author><style face="normal" font="default" size="100%">Medina-Gomez, Carolina</style></author><author><style face="normal" font="default" size="100%">Lo, Ken Sin</style></author><author><style face="normal" font="default" size="100%">Wood, Andrew R</style></author><author><style face="normal" font="default" size="100%">Kjaer, Troels R</style></author><author><style face="normal" font="default" size="100%">Fine, Rebecca S</style></author><author><style face="normal" font="default" size="100%">Lu, Yingchang</style></author><author><style face="normal" font="default" size="100%">Schurmann, Claudia</style></author><author><style face="normal" font="default" size="100%">Highland, Heather M</style></author><author><style face="normal" font="default" size="100%">Rüeger, Sina</style></author><author><style face="normal" font="default" size="100%">Thorleifsson, Gudmar</style></author><author><style face="normal" font="default" size="100%">Justice, Anne E</style></author><author><style face="normal" font="default" size="100%">Lamparter, David</style></author><author><style face="normal" font="default" size="100%">Stirrups, Kathleen E</style></author><author><style face="normal" font="default" size="100%">Turcot, Valérie</style></author><author><style face="normal" font="default" size="100%">Young, Kristin L</style></author><author><style face="normal" font="default" size="100%">Winkler, Thomas W</style></author><author><style face="normal" font="default" size="100%">Esko, Tõnu</style></author><author><style face="normal" font="default" size="100%">Karaderi, Tugce</style></author><author><style face="normal" font="default" size="100%">Locke, Adam E</style></author><author><style face="normal" font="default" size="100%">Masca, Nicholas G D</style></author><author><style face="normal" font="default" size="100%">Ng, Maggie C Y</style></author><author><style face="normal" font="default" size="100%">Mudgal, Poorva</style></author><author><style face="normal" font="default" size="100%">Rivas, Manuel A</style></author><author><style face="normal" font="default" size="100%">Vedantam, Sailaja</style></author><author><style face="normal" font="default" size="100%">Mahajan, Anubha</style></author><author><style face="normal" font="default" size="100%">Guo, Xiuqing</style></author><author><style face="normal" font="default" size="100%">Abecasis, Goncalo</style></author><author><style face="normal" font="default" size="100%">Aben, Katja K</style></author><author><style face="normal" font="default" size="100%">Adair, Linda S</style></author><author><style face="normal" font="default" size="100%">Alam, Dewan S</style></author><author><style face="normal" font="default" size="100%">Albrecht, Eva</style></author><author><style face="normal" font="default" size="100%">Allin, Kristine H</style></author><author><style face="normal" font="default" size="100%">Allison, Matthew</style></author><author><style face="normal" font="default" size="100%">Amouyel, Philippe</style></author><author><style face="normal" font="default" size="100%">Appel, Emil V</style></author><author><style face="normal" font="default" size="100%">Arveiler, Dominique</style></author><author><style face="normal" font="default" size="100%">Asselbergs, Folkert W</style></author><author><style face="normal" font="default" size="100%">Auer, Paul L</style></author><author><style face="normal" font="default" size="100%">Balkau, Beverley</style></author><author><style face="normal" font="default" size="100%">Banas, Bernhard</style></author><author><style face="normal" font="default" size="100%">Bang, Lia E</style></author><author><style face="normal" font="default" size="100%">Benn, Marianne</style></author><author><style face="normal" font="default" size="100%">Bergmann, Sven</style></author><author><style face="normal" font="default" size="100%">Bielak, Lawrence F</style></author><author><style face="normal" font="default" size="100%">Blüher, Matthias</style></author><author><style face="normal" font="default" size="100%">Boeing, Heiner</style></author><author><style face="normal" font="default" size="100%">Boerwinkle, Eric</style></author><author><style face="normal" font="default" size="100%">Böger, Carsten A</style></author><author><style face="normal" font="default" size="100%">Bonnycastle, Lori L</style></author><author><style face="normal" font="default" size="100%">Bork-Jensen, Jette</style></author><author><style face="normal" font="default" size="100%">Bots, Michiel L</style></author><author><style face="normal" font="default" size="100%">Bottinger, Erwin P</style></author><author><style face="normal" font="default" size="100%">Bowden, Donald W</style></author><author><style face="normal" font="default" size="100%">Brandslund, Ivan</style></author><author><style face="normal" font="default" size="100%">Breen, Gerome</style></author><author><style face="normal" font="default" size="100%">Brilliant, Murray H</style></author><author><style face="normal" font="default" size="100%">Broer, Linda</style></author><author><style face="normal" font="default" size="100%">Burt, Amber A</style></author><author><style face="normal" font="default" size="100%">Butterworth, Adam S</style></author><author><style face="normal" font="default" size="100%">Carey, David J</style></author><author><style face="normal" font="default" size="100%">Caulfield, Mark J</style></author><author><style face="normal" font="default" size="100%">Chambers, John C</style></author><author><style face="normal" font="default" size="100%">Chasman, Daniel I</style></author><author><style face="normal" font="default" size="100%">Chen, Yii-Der Ida</style></author><author><style face="normal" font="default" size="100%">Chowdhury, Rajiv</style></author><author><style face="normal" font="default" size="100%">Christensen, Cramer</style></author><author><style face="normal" font="default" size="100%">Chu, Audrey Y</style></author><author><style face="normal" font="default" size="100%">Cocca, Massimiliano</style></author><author><style face="normal" font="default" size="100%">Collins, Francis S</style></author><author><style face="normal" font="default" size="100%">Cook, James P</style></author><author><style face="normal" font="default" size="100%">Corley, Janie</style></author><author><style face="normal" font="default" size="100%">Galbany, Jordi Corominas</style></author><author><style face="normal" font="default" size="100%">Cox, Amanda J</style></author><author><style face="normal" font="default" size="100%">Cuellar-Partida, Gabriel</style></author><author><style face="normal" font="default" size="100%">Danesh, John</style></author><author><style face="normal" font="default" size="100%">Davies, Gail</style></author><author><style face="normal" font="default" size="100%">de Bakker, Paul I W</style></author><author><style face="normal" font="default" size="100%">de Borst, Gert J</style></author><author><style face="normal" font="default" size="100%">de Denus, Simon</style></author><author><style face="normal" font="default" size="100%">de Groot, Mark C H</style></author><author><style face="normal" font="default" size="100%">de Mutsert, Renée</style></author><author><style face="normal" font="default" size="100%">Deary, Ian J</style></author><author><style face="normal" font="default" size="100%">Dedoussis, George</style></author><author><style face="normal" font="default" size="100%">Demerath, Ellen W</style></author><author><style face="normal" font="default" size="100%">den Hollander, Anneke I</style></author><author><style face="normal" font="default" size="100%">Dennis, Joe G</style></author><author><style face="normal" font="default" size="100%">Di Angelantonio, Emanuele</style></author><author><style face="normal" font="default" size="100%">Drenos, Fotios</style></author><author><style face="normal" font="default" size="100%">Du, Mengmeng</style></author><author><style face="normal" font="default" size="100%">Dunning, Alison M</style></author><author><style face="normal" font="default" size="100%">Easton, Douglas F</style></author><author><style face="normal" font="default" size="100%">Ebeling, Tapani</style></author><author><style face="normal" font="default" size="100%">Edwards, Todd L</style></author><author><style face="normal" font="default" size="100%">Ellinor, Patrick T</style></author><author><style face="normal" font="default" size="100%">Elliott, Paul</style></author><author><style face="normal" font="default" size="100%">Evangelou, Evangelos</style></author><author><style face="normal" font="default" size="100%">Farmaki, Aliki-Eleni</style></author><author><style face="normal" font="default" size="100%">Faul, Jessica D</style></author><author><style face="normal" font="default" size="100%">Feitosa, Mary F</style></author><author><style face="normal" font="default" size="100%">Feng, Shuang</style></author><author><style face="normal" font="default" size="100%">Ferrannini, Ele</style></author><author><style face="normal" font="default" size="100%">Ferrario, Marco M</style></author><author><style face="normal" font="default" size="100%">Ferrières, Jean</style></author><author><style face="normal" font="default" size="100%">Florez, Jose C</style></author><author><style face="normal" font="default" size="100%">Ford, Ian</style></author><author><style face="normal" font="default" size="100%">Fornage, Myriam</style></author><author><style face="normal" font="default" size="100%">Franks, Paul W</style></author><author><style face="normal" font="default" size="100%">Frikke-Schmidt, Ruth</style></author><author><style face="normal" font="default" size="100%">Galesloot, Tessel E</style></author><author><style face="normal" font="default" size="100%">Gan, Wei</style></author><author><style face="normal" font="default" size="100%">Gandin, Ilaria</style></author><author><style face="normal" font="default" size="100%">Gasparini, Paolo</style></author><author><style face="normal" font="default" size="100%">Giedraitis, Vilmantas</style></author><author><style face="normal" font="default" size="100%">Giri, Ayush</style></author><author><style face="normal" font="default" size="100%">Girotto, Giorgia</style></author><author><style face="normal" font="default" size="100%">Gordon, Scott D</style></author><author><style face="normal" font="default" size="100%">Gordon-Larsen, Penny</style></author><author><style face="normal" font="default" size="100%">Gorski, Mathias</style></author><author><style face="normal" font="default" size="100%">Grarup, Niels</style></author><author><style face="normal" font="default" size="100%">Grove, Megan L</style></author><author><style face="normal" font="default" size="100%">Gudnason, Vilmundur</style></author><author><style face="normal" font="default" size="100%">Gustafsson, Stefan</style></author><author><style face="normal" font="default" size="100%">Hansen, Torben</style></author><author><style face="normal" font="default" size="100%">Harris, Kathleen Mullan</style></author><author><style face="normal" font="default" size="100%">Harris, Tamara B</style></author><author><style face="normal" font="default" size="100%">Hattersley, Andrew T</style></author><author><style face="normal" font="default" size="100%">Hayward, Caroline</style></author><author><style face="normal" font="default" size="100%">He, Liang</style></author><author><style face="normal" font="default" size="100%">Heid, Iris M</style></author><author><style face="normal" font="default" size="100%">Heikkilä, Kauko</style></author><author><style face="normal" font="default" size="100%">Helgeland, Øyvind</style></author><author><style face="normal" font="default" size="100%">Hernesniemi, Jussi</style></author><author><style face="normal" font="default" size="100%">Hewitt, Alex W</style></author><author><style face="normal" font="default" size="100%">Hocking, Lynne J</style></author><author><style face="normal" font="default" size="100%">Hollensted, Mette</style></author><author><style face="normal" font="default" size="100%">Holmen, Oddgeir L</style></author><author><style face="normal" font="default" size="100%">Hovingh, G Kees</style></author><author><style face="normal" font="default" size="100%">Howson, Joanna M M</style></author><author><style face="normal" font="default" size="100%">Hoyng, Carel B</style></author><author><style face="normal" font="default" size="100%">Huang, Paul L</style></author><author><style face="normal" font="default" size="100%">Hveem, Kristian</style></author><author><style face="normal" font="default" size="100%">Ikram, M Arfan</style></author><author><style face="normal" font="default" size="100%">Ingelsson, Erik</style></author><author><style face="normal" font="default" size="100%">Jackson, Anne U</style></author><author><style face="normal" font="default" size="100%">Jansson, Jan-Håkan</style></author><author><style face="normal" font="default" size="100%">Jarvik, Gail P</style></author><author><style face="normal" font="default" size="100%">Jensen, Gorm B</style></author><author><style face="normal" font="default" size="100%">Jhun, Min A</style></author><author><style face="normal" font="default" size="100%">Jia, Yucheng</style></author><author><style face="normal" font="default" size="100%">Jiang, Xuejuan</style></author><author><style face="normal" font="default" size="100%">Johansson, Stefan</style></author><author><style face="normal" font="default" size="100%">Jørgensen, Marit E</style></author><author><style face="normal" font="default" size="100%">Jørgensen, Torben</style></author><author><style face="normal" font="default" size="100%">Jousilahti, Pekka</style></author><author><style face="normal" font="default" size="100%">Jukema, J Wouter</style></author><author><style face="normal" font="default" size="100%">Kahali, Bratati</style></author><author><style face="normal" font="default" size="100%">Kahn, René S</style></author><author><style face="normal" font="default" size="100%">Kähönen, Mika</style></author><author><style face="normal" font="default" size="100%">Kamstrup, Pia R</style></author><author><style face="normal" font="default" size="100%">Kanoni, Stavroula</style></author><author><style face="normal" font="default" size="100%">Kaprio, Jaakko</style></author><author><style face="normal" font="default" size="100%">Karaleftheri, Maria</style></author><author><style face="normal" font="default" size="100%">Kardia, Sharon L R</style></author><author><style face="normal" font="default" size="100%">Karpe, Fredrik</style></author><author><style face="normal" font="default" size="100%">Kee, Frank</style></author><author><style face="normal" font="default" size="100%">Keeman, Renske</style></author><author><style face="normal" font="default" size="100%">Kiemeney, Lambertus A</style></author><author><style face="normal" font="default" size="100%">Kitajima, Hidetoshi</style></author><author><style face="normal" font="default" size="100%">Kluivers, Kirsten B</style></author><author><style face="normal" 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size="100%">Laakso, Markku</style></author><author><style face="normal" font="default" size="100%">Lakka, Timo A</style></author><author><style face="normal" font="default" size="100%">Lange, Ethan M</style></author><author><style face="normal" font="default" size="100%">Lange, Leslie A</style></author><author><style face="normal" font="default" size="100%">Langefeld, Carl D</style></author><author><style face="normal" font="default" size="100%">Langenberg, Claudia</style></author><author><style face="normal" font="default" size="100%">Larson, Eric B</style></author><author><style face="normal" font="default" size="100%">Lee, I-Te</style></author><author><style face="normal" font="default" size="100%">Lehtimäki, Terho</style></author><author><style face="normal" font="default" size="100%">Lewis, Cora E</style></author><author><style face="normal" font="default" size="100%">Li, Huaixing</style></author><author><style face="normal" font="default" size="100%">Li, Jin</style></author><author><style face="normal" font="default" size="100%">Li-Gao, Ruifang</style></author><author><style face="normal" font="default" size="100%">Lin, Honghuang</style></author><author><style face="normal" font="default" size="100%">Lin, Li-An</style></author><author><style face="normal" font="default" size="100%">Lin, Xu</style></author><author><style face="normal" font="default" size="100%">Lind, Lars</style></author><author><style face="normal" font="default" size="100%">Lindström, Jaana</style></author><author><style face="normal" font="default" size="100%">Linneberg, Allan</style></author><author><style face="normal" font="default" size="100%">Liu, Yeheng</style></author><author><style face="normal" font="default" size="100%">Liu, Yongmei</style></author><author><style face="normal" font="default" size="100%">Lophatananon, Artitaya</style></author><author><style face="normal" font="default" size="100%">Luan, Jian'an</style></author><author><style face="normal" 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size="100%">Metspalu, Andres</style></author><author><style face="normal" font="default" size="100%">Mitchell, Paul</style></author><author><style face="normal" font="default" size="100%">Mohlke, Karen L</style></author><author><style face="normal" font="default" size="100%">Mook-Kanamori, Dennis O</style></author><author><style face="normal" font="default" size="100%">Morgan, Anna</style></author><author><style face="normal" font="default" size="100%">Morris, Andrew D</style></author><author><style face="normal" font="default" size="100%">Morris, Andrew P</style></author><author><style face="normal" font="default" size="100%">Müller-Nurasyid, Martina</style></author><author><style face="normal" font="default" size="100%">Munroe, Patricia B</style></author><author><style face="normal" font="default" size="100%">Nalls, Mike A</style></author><author><style face="normal" font="default" size="100%">Nauck, Matthias</style></author><author><style face="normal" font="default" 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Katharine R</style></author><author><style face="normal" font="default" size="100%">Packard, Chris J</style></author><author><style face="normal" font="default" size="100%">Padmanabhan, Sandosh</style></author><author><style face="normal" font="default" size="100%">Palmer, Colin N A</style></author><author><style face="normal" font="default" size="100%">Pasterkamp, Gerard</style></author><author><style face="normal" font="default" size="100%">Patel, Aniruddh P</style></author><author><style face="normal" font="default" size="100%">Pattie, Alison</style></author><author><style face="normal" font="default" size="100%">Pedersen, Oluf</style></author><author><style face="normal" font="default" size="100%">Peissig, Peggy L</style></author><author><style face="normal" font="default" size="100%">Peloso, Gina M</style></author><author><style face="normal" font="default" size="100%">Pennell, Craig E</style></author><author><style face="normal" font="default" size="100%">Perola, Markus</style></author><author><style face="normal" font="default" size="100%">Perry, James A</style></author><author><style face="normal" font="default" size="100%">Perry, John R B</style></author><author><style face="normal" font="default" size="100%">Person, Thomas N</style></author><author><style face="normal" font="default" size="100%">Pirie, Ailith</style></author><author><style face="normal" font="default" size="100%">Polasek, Ozren</style></author><author><style face="normal" font="default" size="100%">Posthuma, Danielle</style></author><author><style face="normal" font="default" size="100%">Raitakari, Olli T</style></author><author><style face="normal" font="default" size="100%">Rasheed, Asif</style></author><author><style face="normal" font="default" size="100%">Rauramaa, Rainer</style></author><author><style face="normal" font="default" size="100%">Reilly, Dermot F</style></author><author><style face="normal" font="default" size="100%">Reiner, Alex P</style></author><author><style face="normal" font="default" size="100%">Renstrom, Frida</style></author><author><style face="normal" font="default" size="100%">Ridker, Paul M</style></author><author><style face="normal" font="default" size="100%">Rioux, John D</style></author><author><style face="normal" font="default" size="100%">Robertson, Neil</style></author><author><style face="normal" font="default" size="100%">Robino, Antonietta</style></author><author><style face="normal" font="default" size="100%">Rolandsson, Olov</style></author><author><style face="normal" font="default" size="100%">Rudan, Igor</style></author><author><style face="normal" font="default" size="100%">Ruth, Katherine S</style></author><author><style face="normal" font="default" size="100%">Saleheen, Danish</style></author><author><style face="normal" font="default" size="100%">Salomaa, Veikko</style></author><author><style face="normal" font="default" size="100%">Samani, Nilesh 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size="100%">Walker, Mark</style></author><author><style face="normal" font="default" size="100%">Wang, Feijie</style></author><author><style face="normal" font="default" size="100%">Wang, Carol A</style></author><author><style face="normal" font="default" size="100%">Wang, Shuai</style></author><author><style face="normal" font="default" size="100%">Wang, Yiqin</style></author><author><style face="normal" font="default" size="100%">Wareham, Nicholas J</style></author><author><style face="normal" font="default" size="100%">Warren, Helen R</style></author><author><style face="normal" font="default" size="100%">Wessel, Jennifer</style></author><author><style face="normal" font="default" size="100%">Willems, Sara M</style></author><author><style face="normal" font="default" size="100%">Wilson, James G</style></author><author><style face="normal" font="default" size="100%">Witte, Daniel R</style></author><author><style face="normal" font="default" size="100%">Woods, Michael O</style></author><author><style face="normal" font="default" size="100%">Wu, Ying</style></author><author><style face="normal" font="default" size="100%">Yaghootkar, Hanieh</style></author><author><style face="normal" font="default" size="100%">Yao, Jie</style></author><author><style face="normal" font="default" size="100%">Yao, Pang</style></author><author><style face="normal" font="default" size="100%">Yerges-Armstrong, Laura M</style></author><author><style face="normal" font="default" size="100%">Young, Robin</style></author><author><style face="normal" font="default" size="100%">Zeggini, Eleftheria</style></author><author><style face="normal" font="default" size="100%">Zhan, Xiaowei</style></author><author><style face="normal" font="default" size="100%">Zhang, Weihua</style></author><author><style face="normal" font="default" size="100%">Zhao, Jing Hua</style></author><author><style face="normal" font="default" size="100%">Zhao, Wei</style></author><author><style face="normal" font="default" size="100%">Zhao, Wei</style></author><author><style face="normal" font="default" size="100%">Zheng, He</style></author><author><style face="normal" font="default" size="100%">Zhou, Wei</style></author><author><style face="normal" font="default" size="100%">Rotter, Jerome I</style></author><author><style face="normal" font="default" size="100%">Boehnke, Michael</style></author><author><style face="normal" font="default" size="100%">Kathiresan, Sekar</style></author><author><style face="normal" font="default" size="100%">McCarthy, Mark I</style></author><author><style face="normal" font="default" size="100%">Willer, Cristen J</style></author><author><style face="normal" font="default" size="100%">Stefansson, Kari</style></author><author><style face="normal" font="default" size="100%">Borecki, Ingrid B</style></author><author><style face="normal" font="default" size="100%">Liu, Dajiang J</style></author><author><style face="normal" font="default" size="100%">North, Kari E</style></author><author><style face="normal" font="default" size="100%">Heard-Costa, Nancy L</style></author><author><style face="normal" font="default" size="100%">Pers, Tune H</style></author><author><style face="normal" font="default" size="100%">Lindgren, Cecilia M</style></author><author><style face="normal" font="default" size="100%">Oxvig, Claus</style></author><author><style face="normal" font="default" size="100%">Kutalik, Zoltán</style></author><author><style face="normal" font="default" size="100%">Rivadeneira, Fernando</style></author><author><style face="normal" font="default" size="100%">Loos, Ruth J F</style></author><author><style face="normal" font="default" size="100%">Frayling, Timothy M</style></author><author><style face="normal" font="default" size="100%">Hirschhorn, Joel N</style></author><author><style face="normal" font="default" size="100%">Deloukas, Panos</style></author><author><style face="normal" font="default" size="100%">Lettre, Guillaume</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">EPIC-InterAct Consortium</style></author><author><style face="normal" font="default" size="100%">CHD Exome+ Consortium</style></author><author><style face="normal" font="default" size="100%">ExomeBP Consortium</style></author><author><style face="normal" font="default" size="100%">T2D-Genes Consortium</style></author><author><style face="normal" font="default" size="100%">GoT2D Genes Consortium</style></author><author><style face="normal" font="default" size="100%">Global Lipids Genetics Consortium</style></author><author><style face="normal" font="default" size="100%">ReproGen Consortium</style></author><author><style face="normal" font="default" size="100%">MAGIC Investigators</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Rare and low-frequency coding variants alter human adult height.</style></title><secondary-title><style face="normal" font="default" size="100%">Nature</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nature</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">ADAMTS Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Alleles</style></keyword><keyword><style  face="normal" font="default" size="100%">Body Height</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Adhesion Molecules</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Frequency</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome, Human</style></keyword><keyword><style  face="normal" font="default" size="100%">Glycoproteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Glycosaminoglycans</style></keyword><keyword><style  face="normal" font="default" size="100%">Hedgehog Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Intercellular Signaling Peptides and Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Interferon Regulatory Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Interleukin-11 Receptor alpha Subunit</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Multifactorial Inheritance</style></keyword><keyword><style  face="normal" font="default" size="100%">NADPH Oxidase 4</style></keyword><keyword><style  face="normal" font="default" size="100%">NADPH Oxidases</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Pregnancy-Associated Plasma Protein-A</style></keyword><keyword><style  face="normal" font="default" size="100%">Procollagen N-Endopeptidase</style></keyword><keyword><style  face="normal" font="default" size="100%">Proteoglycans</style></keyword><keyword><style  face="normal" font="default" size="100%">Proteolysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Receptors, Androgen</style></keyword><keyword><style  face="normal" font="default" size="100%">Somatomedins</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2017</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2017 02 09</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">542</style></volume><pages><style face="normal" font="default" size="100%">186-190</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">7640</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/28146470?dopt=Abstract</style></custom1></record></records></xml>