Rare and low-frequency coding variants alter human adult height

Nature

Volumn 542, Issue 7640, 2017, Pages 186-190

  Marouli, Eirini ^a   Graff, Mariaelisa ^b   Medina Gomez, Carolina ^c   Lo, Ken Sin ^d   Wood, Andrew R ^e   Kjaer, Troels R ^f   Fine, Rebecca S ^g,h,i   Lu, Yingchang ^j,k   Schurmann, Claudia ^k   Highland, Heather M ^b,l   Rüeger, Sina ^m,n   Thorleifsson, Gudmar ^o   Justice, Anne E ^b   Lamparter, David ^n,p   Stirrups, Kathleen E ^a,q   Turcot, Valérie ^d   Young, Kristin L ^b   Winkler, Thomas W ^r   Esko, Tõnu ^g,i,s   Karaderi, Tugce ^t   Locke, Adam E ^u,v   Masca, Nicholas G D ^w,x   Ng, Maggie C Y ^y   Mudgal, Poorva ^y   Rivas, Manuel A ^g,z   Vedantam, Sailaja ^g,h,i   Mahajan, Anubha ^t   Guo, Xiuqing ^aa   Abecasis, Goncalo ^u   Aben, Katja K ^ab,ac   Adair, Linda S ^b   Alam, Dewan S ^ad   Albrecht, Eva ^ae   Allin, Kristine H ^af   Allison, Matthew ^ag   Amouyel, Philippe ^ah,ai,aj   Appel, Emil V ^af   Arveiler, Dominique ^ak,al   Asselbergs, Folkert W ^am,an,ao   Auer, Paul L ^ap   Balkau, Beverley ^aq   Banas, Bernhard ^ar   Bang, Lia E ^as   Benn, Marianne ^at,au   Bergmann, Sven ^n,p   Bielak, Lawrence F ^u   Blüher, Matthias ^av   Boeing, Heiner ^aw   Boerwinkle, Eric ^l,ax   Böger, Carsten A ^ar   Bonnycastle, Lori L ^ay   Bork Jensen, Jette ^af   Bots, Michiel L ^am   Bottinger, Erwin P ^k   Bowden, Donald W ^y   Brandslund, Ivan ^az,ba   Breen, Gerome ^bb   Brilliant, Murray H ^bc   Broer, Linda ^c   Burt, Amber A ^bd   Butterworth, Adam S ^q   Carey, David J ^be   Caulfield, Mark J ^a   Chambers, John C ^bf,bg,bh   Chasman, Daniel I ^g,h,bi   Chen, Yii Der Ida ^aa   Chowdhury, Rajiv ^q   Christensen, Cramer ^az   Chu, Audrey Y ^bi,bj   Cocca, Massimiliano ^bk   Collins, Francis S ^ay   Cook, James P ^bl   Corley, Janie ^bm   Galbany, Jordi Corominas ^ac   Cox, Amanda J ^y,bn   Cuellar Partida, Gabriel ^bo,bp   Danesh, John ^q,bq   Davies, Gail ^bm   De Bakker, Paul I W ^am   De Borst, Gert J ^am   De Denus, Simon ^d,br   De Groot, Mark C H ^am,bs   De Mutsert, Renée ^bt   Deary, Ian J ^bm   Dedoussis, George ^bu   Demerath, Ellen W ^bv   Den Hollander, Anneke I ^ac   Dennis, Joe G ^q   Di Angelantonio, Emanuele ^q   Drenos, Fotios ^ao,bw   Du, Mengmeng ^bx,by   Dunning, Alison M ^q   Easton, Douglas F ^q   Ebeling, Tapani ^bz,ca   Edwards, Todd L ^cb   Ellinor, Patrick T ^g,cc   Elliott, Paul ^bg   Evangelou, Evangelos ^bg,cd   Farmaki, Aliki Eleni ^bu   Faul, Jessica D ^u   Feitosa, Mary F ^v   Feng, Shuang ^u   Ferrannini, Ele ^ce,cf   Ferrario, Marco M ^cg   Ferrieres, Jean ^ch   Florez, Jose C ^g,h,cc   Ford, Ian ^ci   Fornage, Myriam ^cj   Franks, Paul W ^ck,cl,cm   Frikke Schmidt, Ruth ^as,au   Galesloot, Tessel E ^ac   Gan, Wei ^t   Gandin, Ilaria ^bk   Gasparini, Paolo ^bk,cn   Giedraitis, Vilmantas ^co   Giri, Ayush ^cb   Girotto, Giorgia ^bk,cn   Gordon, Scott D ^bp   Gordon Larsen, Penny ^cp,cq   Gorski, Mathias ^r,ar   Grarup, Niels ^af   Grove, Megan L ^l   Gudnason, Vilmundur ^cr,cs   Gustafsson, Stefan ^co   Hansen, Torben ^af   Harris, Kathleen Mullan ^cp,ct   Harris, Tamara B ^cu   Hattersley, Andrew T ^e   Hayward, Caroline ^bm   He, Liang ^cv,cw   Heid, Iris M ^r,ae   Heikkilä, Kauko ^cw   Helgeland, Øyvind ^cx,cy   Hernesniemi, Jussi ^cz,da,db   Hewitt, Alex W ^dc,dd,de   Hocking, Lynne J ^bm,df   Hollensted, Mette ^af   Holmen, Oddgeir L ^dg   Hovingh, G Kees ^dh   Howson, Joanna M M ^q   Hoyng, Carel B ^ac   Huang, Paul L ^cc   Hveem, Kristian ^dg   Ikram, M Arfan ^c   Ingelsson, Erik ^co,di   Jackson, Anne U ^u   Jansson, Jan Håkan ^dj,dk   Jarvik, Gail P ^bd   Jensen, Gorm B ^dl   Jhun, Min A ^u   Jia, Yucheng ^aa   Jiang, Xuejuan ^dm,dn   Johansson, Stefan ^cx,cy   Jørgensen, Marit E ^do,dp   Jørgensen, Torben ^au,dq,dr   Jousilahti, Pekka ^ds   Jukema, J Wouter ^an,bt   Kahali, Bratati ^u,dt   Kahn, René S ^am   Kähönen, Mika ^db   Kamstrup, Pia R ^at   Kanoni, Stavroula ^a   Kaprio, Jaakko ^cw,ds   Karaleftheri, Maria ^du   Kardia, Sharon L R ^u   Karpe, Fredrik ^dv,dw   Kee, Frank ^dx   Keeman, Renske ^dy   Kiemeney, Lambertus A ^ac   Kitajima, Hidetoshi ^t   Kluivers, Kirsten B ^ac   Kocher, Thomas ^dz   Komulainen, Pirjo ^ea   Kontto, Jukka ^ds   Kooner, Jaspal S ^bf,bh,eb   Kooperberg, Charles ^bx   Kovacs, Peter ^av   Kriebel, Jennifer ^ae,ec   Kuivaniemi, Helena ^be,ed   Küry, Sébastien ^ee   Kuusisto, Johanna ^ef   La Bianca, Martina ^eg   Laakso, Markku ^ef   Lakka, Timo A ^ea   Lange, Ethan M ^eh   Lange, Leslie A ^eh   Langefeld, Carl D ^y   Langenberg, Claudia ^ei   Larson, Eric B ^bd,ej   Lee, I Te ^ek,el,em   Lehtimäki, Terho ^da,db   Lewis, Cora E ^en   Li, Huaixing ^eo   Li, Jin ^di   Li Gao, Ruifang ^bt   Lin, Honghuang ^ep   Lin, Li An ^cj   Lin, Xu ^eo   Lind, Lars ^co   Lindström, Jaana ^ds   Linneberg, Allan ^as,au,dr   Liu, Yeheng ^aa   Liu, Yongmei ^y   Lophatananon, Artitaya ^eq   Luan, Jian'an ^ei   Lubitz, Steven A ^g,cc   Lyytikäinen, Leo Pekka ^da,db   MacKey, David A ^dd   Madden, Pamela A F ^er   Manning, Alisa K ^g,h,cc   Männistö, Satu ^ds   Marenne, Gaëlle ^bq   Marten, Jonathan ^bm   Martin, Nicholas G ^bp   Mazul, Angela L ^b   Meidtner, Karina ^aw,ec   Metspalu, Andres ^s   Mitchell, Paul ^es   Mohlke, Karen L ^eh   Mook Kanamori, Dennis O ^bt   Morgan, Anna ^bk   Morris, Andrew D ^et   Morris, Andrew P ^t,bl   Müller Nurasyid, Martina ^ae,eu,ev   Munroe, Patricia B ^a   Nalls, Mike A ^cu   Nauck, Matthias ^dz,ev   Nelson, Christopher P ^w,x   Neville, Matt ^dv,dw   Nielsen, Sune F ^at,au   Nikus, Kjell ^cz   Njølstad, Pål R ^cx,cy   Nordestgaard, Børge G ^at,au   Ntalla, Ioanna ^a   O'Connel, Jeffrey R ^ew   Oksa, Heikki ^cz   Loohuis, Loes M Olde ^ex   Ophoff, Roel A ^am,ex   Owen, Katharine R ^dv,dw   Packard, Chris J ^ci   Padmanabhan, Sandosh ^ci   Palmer, Colin N A ^ey   Pasterkamp, Gerard ^am   Patel, Aniruddh P ^g,h,cc   Pattie, Alison ^bm   Pedersen, Oluf ^af   Peissig, Peggy L ^bc   Peloso, Gina M ^g,cc   Pennell, Craig E ^ez   Perola, Markus ^s,cw,ds   Perry, James A ^ew   Perry, John R B ^ei   Person, Thomas N ^bc   Pirie, Ailith ^q   Polasek, Ozren ^et,fa   Posthuma, Danielle ^fb,fc   Raitakari, Olli T ^fd,fe   Rasheed, Asif ^ff   Rauramaa, Rainer ^ea,ef   Reilly, Dermot F ^fg   Reiner, Alex P ^bd,bx   Renström, Frida ^ck,dj   Ridker, Paul M ^h,bi   Rioux, John D ^d,br   Robertson, Neil ^t,dv   Robino, Antonietta ^eg   Rolandsson, Olov ^dj   Rudan, Igor ^et   Ruth, Katherine S ^e   Saleheen, Danish ^ff,fh   Salomaa, Veikko ^ds   Samani, Nilesh J ^w,x   Sandow, Kevin ^aa   Sapkota, Yadav ^bp   Sattar, Naveed ^ci   Schmidt, Marjanka K ^dy   Schreiner, Pamela J ^fi   Schulze, Matthias B ^aw,ec   Scott, Robert A ^ei   Segura Lepe, Marcelo P ^bg   Shah, Svati ^cv   Sim, Xueling ^u,fj   Sivapalaratnam, Suthesh ^q,cc,dh   Small, Kerrin S ^fk   Smith, Albert Vernon ^cr,cs   Smith, Jennifer A ^u   Southam, Lorraine ^t,bq   Spector, Timothy D ^fk   Speliotes, Elizabeth K ^u,dt   Starr, John M ^bm   Steinthorsdottir, Valgerdur ^o   Stringham, Heather M ^u   Stumvoll, Michael ^av   Surendran, Praveen ^q   Hart't, Leen M ^bt,fc   Tansey, Katherine E ^bw,fl   Tardif, Jean Claude ^d,br   Taylor, Kent D ^aa   Teumer, Alexander ^dz   Thompson, Deborah J ^q   Thorsteinsdottir, Unnur ^o,cr   Thuesen, Betina H ^dr   Tönjes, Anke ^av   Tromp, Gerard ^be,ed   Trompet, Stella ^bt   Tsafantakis, Emmanouil ^fm   Tuomilehto, Jaakko ^ds,fn,fo,fp   Tybjaerg Hansen, Anne ^as,au   Tyrer, Jonathan P ^q   Uher, Rudolf ^fq   Uitterlinden, André G ^c   Ulivi, Sheila ^eg   Van Der Laan, Sander W ^am   Van Der Leij, Andries R ^fr   Van Duijn, Cornelia M ^c   Van Schoor, Natasja M ^fc   Van Setten, Jessica ^am   Varbo, Anette ^at,au   Varga, Tibor V ^ck   Varma, Rohit ^dn   Velez Edwards, Digna R ^cb   Vermeulen, Sita H ^ac   Vestergaard, Henrik ^af   Vitart, Veronique ^bm   Vogt, Thomas F ^fg   Vozzi, Diego ^cn   Walker, Mark ^fs   Wang, Feijie ^eo   Wang, Carol A ^ez   Wang, Shuai ^ft   Wang, Yiqin ^eo   Wareham, Nicholas J ^ei   Warren, Helen R ^a   Wessel, Jennifer ^fu   Willems, Sara M ^ei   Wilson, James G ^fv   Witte, Daniel R ^f,fw   Woods, Michael O ^fx   Wu, Ying ^eh   Yaghootkar, Hanieh ^e   Yao, Jie ^aa   Yao, Pang ^eo   Yerges Armstrong, Laura M ^ew,fy   Young, Robin ^q,ci   Zeggini, Eleftheria ^bq   Zhan, Xiaowei ^fz   Zhang, Weihua ^bf,bg   Zhao, Jing Hua ^ei   Zhao, Wei ^u,fh   Zheng, He ^eo   Zhou, Wei ^dt   Rotter, Jerome I ^aa   Boehnke, Michael ^u   Kathiresan, Sekar ^g,h,cc   McCarthy, Mark I ^t,dv,dw   Willer, Cristen J ^dt   Stefansson, Kari ^o,cr   Borecki, Ingrid B ^v   Liu, Dajiang J ^ga   North, Kari E ^gb   Heard Costa, Nancy L ^bj,ep   Pers, Tune H ^af,gc   Lindgren, Cecilia M ^t,z   Oxvig, Claus ^f   Kutalik, Zoltán ^m,n   Rivadeneira, Fernando ^c   Loos, Ruth J F ^k   Frayling, Timothy M ^e   Hirschhorn, Joel N ^g,h,i   Deloukas, Panos ^a,fp   Lettre, Guillaume ^d,br   more..

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b IL   (United States)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d MONTREAL HEART INSTITUTE   (Canada)

^e UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

^f AARHUS UNIVERSITY   (Denmark)

^g BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ BOSTON CHILDREN S HOSPITAL   (United States)

^j VANDERBILT INGRAM CANCER CENTER   (United States)

^k MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^l UNIVERSITY OF TEXAS SCHOOL OF PUBLIC HEALTH   (United States)

^m UNIVERSITY OF LAUSANNE   (Switzerland)

ⁿ SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^o DECODE GENETICS   (Iceland)

^p UNIVERSITY OF LAUSANNE   (Switzerland)

^q UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^r UNIVERSITY OF REGENSBURG   (Germany)

^s UNIVERSITY OF TARTU   (Estonia)

^t UNIVERSITY OF OXFORD   (United Kingdom)

^u UNIVERSITY OF MICHIGAN   (United States)

^v WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^w UNIVERSITY OF LEICESTER   (United Kingdom)

^x GLENFIELD HOSPITAL   (United Kingdom)

^y WAKE FOREST SCHOOL OF MEDICINE   (United States)

^z UNIVERSITY OF OXFORD   (United Kingdom)

^aa HARBOR UCLA MEDICAL CENTER   (United States)

^ab Department of Cancer Registry and Research   (Netherlands)

^ac RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^ad Centre for Control of Chronic Diseases (CCCD) Icddrb   (Bangladesh)

^ae INSTITUTE OF EPIDEMIOLOGY   (Germany)

^af Capital Region   (Denmark)

^ag UNIVERSITY OF CALIFORNIA   (United States)

^ah INSERM   (France)

^ai INSTITUT PASTEUR DE LILLE   (France)

^aj UNIV LILLE   (France)

^ak UNIVERSITÉ DE STRASBOURG   (France)

^al UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^am UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^an ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^ao UNIVERSITY COLLEGE LONDON   (United Kingdom)

^ap UNIVERSITY OF WISCONSIN MILWAUKEE   (United States)

^aq CENTRE FOR RESEARCH IN EPIDEMIOLOGY AND POPULATION HEALTH   (France)

^ar UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^as Rigshospitalet   (Denmark)

^at GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^au UNIVERSITY OF COPENHAGEN   (Denmark)

^av UNIVERSITY OF LEIPZIG   (Germany)

^aw GERMAN INSTITUTE OF HUMAN NUTRITION   (Germany)

^ax BAYLOR COLLEGE OF MEDICINE   (United States)

^ay NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^az LILLEBAELT HOSPITAL   (Denmark)

^ba UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^bb KING'S COLLEGE LONDON   (United Kingdom)

^bc MARSHFIELD CLINIC   (United States)

^bd UNIVERSITY OF WASHINGTON   (United States)

^be WEIS CENTER FOR RESEARCH   (United States)

^bf EALING HOSPITAL   (United Kingdom)

^bg IMPERIAL COLLEGE LONDON   (United Kingdom)

^bh IMPERIAL COLLEGE HEALTHCARE NHS TRUST   (United Kingdom)

^bi BRIGHAM AND WOMEN S HOSPITAL   (United States)

^bj FRAMINGHAM HEART STUDY   (United States)

^bk UNIVERSITY OF TRIESTE   (Italy)

^bl UNIVERSITY OF LIVERPOOL   (United Kingdom)

^bm UNIVERSITY OF EDINBURGH   (United Kingdom)

^bn GRIFFITH UNIVERSITY   (Australia)

^bo UNIVERSITY OF QUEENSLAND   (Australia)

^bp QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^bq WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^br UNIVERSITÉ DE MONTRÉAL   (Canada)

^bs UTRECHT UNIVERSITY   (Netherlands)

^bt LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^bu HAROKOPIO UNIVERSITY   (Greece)

^bv UNIVERSITY OF MINNESOTA   (United States)

^bw UNIVERSITY OF BRISTOL   (United Kingdom)

^bx Fred Hutchinson Cancer Research Center   (United States)

^by MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^bz OULU UNIVERSITY HOSPITAL   (Finland)

^ca UNIVERSITY OF OULU   (Finland)

^cb VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^cc MASSACHUSETTS GENERAL HOSPITAL   (United States)

^cd UNIVERSITY OF IOANNINA   (Greece)

^ce INSTITUTE OF CLINICAL PHYSIOLOGY   (Italy)

^cf UNIVERSITY OF PISA   (Italy)

^cg UNIVERSITY OF INSUBRIA   (Italy)

^ch UNIVERSITÉ DE TOULOUSE   (France)

^ci UNIVERSITY OF GLASGOW   (United Kingdom)

^cj UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^ck LUND UNIVERSITY   (Sweden)

^cl HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^cm UMEÅ UNIVERSITY   (Sweden)

^cn SIDRA MEDICAL AND RESEARCH CENTER   (Qatar)

^co UPPSALA UNIVERSITY   (Sweden)

^cp UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL   (United States)

^cq University of North Carolina   (United States)

^cr UNIVERSITY OF ICELAND   (Iceland)

^cs ICELANDIC HEART ASSOCIATION   (Iceland)

^ct UNIVERSITY OF NORTH CAROLINA   (United States)

^cu NATIONAL INSTITUTE ON AGING   (United States)

^cv DUKE UNIVERSITY   (United States)

^cw UNIVERSITY OF HELSINKI   (Finland)

^cx HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^cy UNIVERSITY OF BERGEN   (Norway)

^cz TAMPERE UNIVERSITY HOSPITAL   (Finland)

^da FIMLAB LABORATORIES   (Finland)

^db TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^dc UNIVERSITY OF MELBOURNE   (Australia)

^dd UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^de UNIVERSITY OF TASMANIA   (Australia)

^df UNIVERSITY OF ABERDEEN   (United Kingdom)

^dg NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^dh ACADEMIC MEDICAL CENTER   (Netherlands)

^di STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^dj UMEÅ UNIVERSITY   (Sweden)

^dk Division of Nephrology   (Sweden)

^dl FREDERIKSBERG HOSPITAL   (Denmark)

^dm UNIVERSITY OF CALIFORNIA   (United States)

^dn UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^do UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^dp STENO DIABETES CENTER   (Denmark)

^dq AALBORG UNIVERSITY   (Denmark)

^dr Research Centre for Prevention and Health   (Denmark)

^ds NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^dt UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^du Echinos Medical Centre   (Greece)

^dv UNIVERSITY OF OXFORD   (United Kingdom)

^dw OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^dx QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^dy ANTONI VAN LEEUWENHOEK HOSPITAL   (Netherlands)

^dz UNIVERSITY MEDICINE GREIFSWALD   (Germany)

^ea UNIVERSITY OF EASTERN FINLAND   (Finland)

^eb NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^ec GERMAN CENTER FOR DIABETES RESEARCH DZD   (Germany)

^ed UNIVERSITY OF STELLENBOSCH   (South Africa)

^ee NANTES UNIVERSITY HOSPITAL   (France)

^ef KUOPIO UNIVERSITY HOSPITAL   (Finland)

^eg INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^eh UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^ei UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^ej GROUP HEALTH RESEARCH INSTITUTE   (United States)

^ek TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

^el NATIONAL YANG MING UNIVERSITY   (Taiwan)

^em CHUNG SHAN MEDICAL UNIVERSITY   (Taiwan)

^en University of Alabama at Birmingham   (United States)

^eo UNIVERSITY OF CHINESE ACADEMY OF SCIENCES   (China)

^ep BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^eq UNIVERSITY OF WARWICK   (United Kingdom)

^er WASHINGTON UNIVERSITY   (United States)

^es UNIVERSITY OF SYDNEY   (Australia)

^et UNIVERSITY OF EDINBURGH   (United Kingdom)

^eu UNIVERSITY OF MUNICH   (Germany)

^ev DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^ew UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^ex UNIVERSITY OF CALIFORNIA   (United States)

^ey UNIVERSITY OF DUNDEE   (United Kingdom)

^ez UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^fa UNIVERSITY OF SPLIT   (Croatia)

^fb VU UNIVERSITY AMSTERDAM   (Netherlands)

^fc VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^fd TURKU UNIVERSITY HOSPITAL   (Finland)

^fe UNIVERSITY OF TURKU   (Finland)

^ff Centre for Non Communicable Diseases   (Pakistan)

^fg MERCK RESEARCH LABORATORIES   (United States)

^fh UNIVERSITY OF PENNSYLVANIA   (United States)

^fi UNIVERSITY OF MINNESOTA   (United States)

^fj NATIONAL UNIVERSITY HEALTH SYSTEM   (Singapore)

^fk KING'S COLLEGE LONDON   (United Kingdom)

^fl CARDIFF UNIVERSITY   (United Kingdom)

^fm Anogia Medical Centre   (Greece)

^fn DANUBE UNIVERSITY KREMS   (Austria)

^fo DASMAN DIABETES INSTITUTE   (Kuwait)

^fp KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^fq DALHOUSIE UNIVERSITY   (Canada)

^fr UNIVERSITY OF AMSTERDAM   (Netherlands)

^fs NEWCASTLE UNIVERSITY   (United Kingdom)

^ft BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

^fu INDIANA UNIVERSITY   (United States)

^fv UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^fw Danish Diabetes Academy   (Denmark)

^fx MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^fy GLAXOSMITHKLINE   (United States)

^fz UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^ga PENN STATE COLLEGE OF MEDICINE   (United States)

^gb Carolina Center for Genome Sciences   (United States)

^gc STATENS SERUM INSTITUT   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADAMTS PROTEIN; ADAMTS3 PROTEIN; GLYCOSAMINOGLYCAN; INTERLEUKIN 11 RECEPTOR ALPHA; PREGNANCY ASSOCIATED PLASMA PROTEIN A; PROTEOGLYCAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 4; SOMATOMEDIN; UNCLASSIFIED DRUG; ADAMTS3 PROTEIN, HUMAN; ANDROGEN RECEPTOR; AR PROTEIN, HUMAN; CELL ADHESION MOLECULE; CRISPLD2 PROTEIN, HUMAN; GLYCOPROTEIN; IHH PROTEIN, HUMAN; IL11RA PROTEIN, HUMAN; INTERFERON REGULATORY FACTOR; NOX4 PROTEIN, HUMAN; PROCOLLAGEN N PROTEINASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; SIGNAL PEPTIDE; SONIC HEDGEHOG PROTEIN; STC2 PROTEIN, HUMAN;

ADULT; ALLELE; BIOAVAILABILITY; GENE EXPRESSION; GROWTH RESPONSE; HEIGHT; INHIBITION; MUTATION; PHENOTYPE;

ADULT; ALLELE; ARTICLE; BIOAVAILABILITY; BONE GROWTH; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENE FREQUENCY; GENETIC CODE; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; GLYCOSAMINOGLYCAN METABOLISM; HEIGHT; HUMAN; HUMAN EXPERIMENT; IN VITRO STUDY; MALE; NORMAL HUMAN; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; PROTEOGLYCAN SYNTHESIS; SINGLE NUCLEOTIDE POLYMORPHISM; BIOSYNTHESIS; BODY HEIGHT; GENETIC VARIATION; GENETICS; HUMAN GENOME; METABOLISM; MULTIFACTORIAL INHERITANCE; PROTEIN DEGRADATION;

ADAMTS PROTEINS; ADULT; ALLELES; BODY HEIGHT; CELL ADHESION MOLECULES; FEMALE; GENE FREQUENCY; GENETIC VARIATION; GENOME, HUMAN; GLYCOPROTEINS; GLYCOSAMINOGLYCANS; HEDGEHOG PROTEINS; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; INTERFERON REGULATORY FACTORS; INTERLEUKIN-11 RECEPTOR ALPHA SUBUNIT; MALE; MULTIFACTORIAL INHERITANCE; NADPH OXIDASE; PHENOTYPE; PREGNANCY-ASSOCIATED PLASMA PROTEIN-A; PROCOLLAGEN N-ENDOPEPTIDASE; PROTEOGLYCANS; PROTEOLYSIS; RECEPTORS, ANDROGEN; SOMATOMEDINS;

EID: 85012918562     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature21039     Document Type: Article

References (50)

1. Fisher, R. A. The correlation between relatives on the supposition of Mendelian inheritance. Trans. R. Soc. Edinb. 52, 399-433 (1918).
2. Silventoinen, K. et al. Heritability of adult body height: a comparative study of twin cohorts in eight countries. Twin Res. 6, 399-408 (2003).
3. Wood, A. R. et al. Defining the role of common variation in the genomic and biological architecture of adult human height. Nat. Genet. 46, 1173-1186 (2014).
4. Flannick, J. et al. Loss-of-function mutations in SLC30A8 protect against type 2 diabetes. Nat. Genet. 46, 357-363 (2014).
5. Steinthorsdottir, V. et al. Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes. Nat. Genet. 46, 294-298 (2014).
6. Gudmundsson, J. et al. A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer. Nat. Genet. 44, 1326-1329 (2012).
7. Sidore, C. et al. Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. Nat. Genet. 47, 1272-1281 (2015).
8. Danjou, F. et al. Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. Nat. Genet. 47, 1264-1271 (2015).
9. Zuk, O. et al. Searching for missing heritability: designing rare variant association studies. Proc. Natl Acad. Sci. USA 111, E455-E464 (2014).
10. Yang, J. et al. Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index. Nat. Genet. 47, 1114-1120 (2015).
11. Grove, M. L. et al. Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium. PLoS One 8, e68095 (2013).
12. Kryukov, G. V., Pennacchio, L. A. & Sunyaev, S. R. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am. J. Hum. Genet. 80, 727-739 (2007).
13. Tennessen, J. A. et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science 337, 64-69 (2012).
14. Lanktree, M. B. et al. Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height. Am. J. Hum. Genet. 88, 6-18 (2011).
15. Pers, T. H. et al. Biological interpretation of genome-wide association studies using predicted gene functions. Nat. Commun. 6, 5890 (2015).
16. Lamparter, D., Marbach, D., Rueedi, R., Kutalik, Z. & Bergmann, S. Fast and rigorous computation of gene and pathway scores from SNP-based summary statistics. PLOS Comput. Biol. 12, e1004714 (2016).
17. Schwartz, N. B. & Domowicz, M. Chondrodysplasias due to proteoglycan defects. Glycobiology 12, 57R-68R (2002).
18. Wei, H. S., Wei, H. L., Zhao, F., Zhong, L. P. & Zhan, Y. T. Glycosyltransferase GLT8D2 positively regulates ApoB100 protein expression in hepatocytes. Int. J. Mol. Sci. 14, 21435-21446 (2013).
19. Ito, H. et al. Molecular cloning and biological activity of a novel lysyl oxidaserelated gene expressed in cartilage. J. Biol. Chem. 276, 24023-24029 (2001).
20. Wakahara, T. et al. Fibin, a novel secreted lateral plate mesoderm signal, is essential for pectoral fin bud initiation in zebrafish. Dev. Biol. 303, 527-535 (2007).
21. Kawano, Y. & Kypta, R. Secreted antagonists of the Wnt signalling pathway. J. Cell Sci. 116, 2627-2634 (2003).
22. Mastaitis, J. et al. Loss of SFRP4 alters body size, food intake, and energy expenditure in diet-induced obese male mice. Endocrinology 156, 4502-4510 (2015).
23. Jepsen, M. R. et al. Stanniocalcin-2 inhibits mammalian growth by proteolytic inhibition of the insulin-like growth factor axis. J. Biol. Chem. 290, 3430-3439 (2015).
24. Dauber, A. et al. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. EMBO Mol. Med. 8, 363-374 (2016).
25. Lango Allen, H. et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832-838 (2010).
26. Karaplis, A. C. et al. Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 139, 5255-5258 (1998).
27. Sims, N. A. et al. Interleukin-11 receptor signaling is required for normal bone remodeling. J. Bone Miner. Res. 20, 1093-1102 (2005).
28. Takeuchi, Y. et al. Interleukin-11 as a stimulatory factor for bone formation prevents bone loss with advancing age in mice. J. Biol. Chem. 277, 49011-49018 (2002).
29. Fuchsberger, C. et al. The genetic architecture of type 2 diabetes. Nature 536, 41-47 (2016).
30. Goldstein, J. I. et al. zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics 28, 2543-2545 (2012).
31. Liu, D. J. et al. Meta-analysis of gene-level tests for rare variant association. Nat. Genet. 46, 200-204 (2014).
32. Winkler, T. W. & Day, F. R. Quality control and conduct of genome-wide association meta-analyses. Nat. Protocols 9, 1192-1212 (2014).
33. Yang, J. et al. Genomic inflation factors under polygenic inheritance. Eur. J. Hum. Genet. 19, 807-812 (2011).
34. Bulik-Sullivan, B. K. et al. LD score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat. Genet. 47, 291-295 (2015).
35. Feng, S., Liu, D., Zhan, X., Wing, M. K. & Abecasis, G. R. RAREMETAL: fast and powerful meta-analysis for rare variants. Bioinformatics 30, 2828-2829 (2014).
36. Yang, J. et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat. Genet. 44, 369-375 (2012).
37. Loh, P. R. et al. Efficient Bayesian mixed-model analysis increases association power in large cohorts. Nat. Genet. 47, 284-290 (2015).
38. Pasaniuc, B. et al. Fast and accurate imputation of summary statistics enhances evidence of functional enrichment. Bioinformatics 30, 2906-2914 (2014).
39. Moayyeri, A., Hammond, C. J., Valdes, A. M. & Spector, T. D. Cohort Profile: TwinsUK and healthy ageing twin study. Int. J. Epidemiol. 42, 76-85 (2013).
40. Boyd, A. et al. Cohort Profile: the 'children of the 90s'-the index offspring of the Avon Longitudinal Study of Parents and Children. Int. J. Epidemiol. 42, 111-127 (2013).
41. Willer, C. J., Li, Y. & Abecasis, G. R. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190-2191 (2010).
42. Purcell, S. M. et al. A polygenic burden of rare disruptive mutations in schizophrenia. Nature 506, 185-190 (2014).
43. Wu, M. C. et al. Rare-variant association testing for sequencing data with the sequence kernel association test. Am. J. Hum. Genet. 89, 82-93 (2011).
44. Price, A. L. et al. Pooled association tests for rare variants in exon-resequencing studies. Am. J. Hum. Genet. 86, 832-838 (2010).
45. Nikpay, M. et al. A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nat. Genet. 47, 1121-1130 (2015).
46. Fehrmann, R. S. et al. Gene expression analysis identifies global gene dosage sensitivity in cancer. Nat. Genet. 47, 115-125 (2015).
47. Frey, B. J. & Dueck, D. Clustering by passing messages between data points. Science 315, 972-976 (2007).
48. Overgaard, M. T. et al. Expression of recombinant human pregnancy-associated plasma protein-A and identification of the proform of eosinophil major basic protein as its physiological inhibitor. J. Biol. Chem. 275, 31128-31133 (2000).
49. Gyrup, C. & Oxvig, C. Quantitative analysis of insulin-like growth factormodulated proteolysis of insulin-like growth factor binding protein-4 and-5 by pregnancy-associated plasma protein-A. Biochemistry 46, 1972-1980 (2007).
50. Oxvig, C., Sand, O., Kristensen, T., Kristensen, L. & Sottrup-Jensen, L. Isolation and characterization of circulating complex between human pregnancyassociated plasma protein-A and proform of eosinophil major basic protein. Biochim. Biophys. Acta 1201, 415-423 (1994).