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dc.contributor.authorMarouli, Eirini
dc.contributor.authorGraff, Mariaelisa
dc.contributor.authorMedina-Gomez, Carolina
dc.contributor.authorLo, Ken Sin
dc.contributor.authorWood, Andrew R
dc.contributor.authorKjaer, Troels R
dc.contributor.authorFine, Rebecca S
dc.contributor.authorLu, Yingchang
dc.contributor.authorSchurmann, Claudia
dc.contributor.authorHighland, Heather M
dc.contributor.authorRueger, Sina
dc.contributor.authorThorleifsson, Gudmar
dc.contributor.authorJustice, Anne E
dc.contributor.authorLamparter, David
dc.contributor.authorStirrups, Kathleen E
dc.contributor.authorTurcot, Valerie
dc.contributor.authorYoung, Kristin L
dc.contributor.authorWinkler, Thomas W
dc.contributor.authorEsko, Tonu
dc.contributor.authorKaraderi, Tugce
dc.contributor.authorLocke, Adam E
dc.contributor.authorMasca, Nicholas GD
dc.contributor.authorNg, Maggie CY
dc.contributor.authorMudgal, Poorva
dc.contributor.authorRivas, Manuel A
dc.contributor.authorVedantam, Sailaja
dc.contributor.authorMahajan, Anubha
dc.contributor.authorGuo, Xiuqing
dc.contributor.authorAbecasis, Goncalo
dc.contributor.authorAben, Katja K
dc.contributor.authorAdair, Linda S
dc.contributor.authorAlam, Dewan S
dc.contributor.authorAlbrecht, Eva
dc.contributor.authorAllin, Kristine H
dc.contributor.authorAllison, Matthew
dc.contributor.authorAmouyel, Philippe
dc.contributor.authorAppel, Emil V
dc.contributor.authorArveiler, Dominique
dc.contributor.authorAsselbergs, Folkert W
dc.contributor.authorAuer, Paul L
dc.contributor.authorBalkau, Beverley
dc.contributor.authorBanas, Bernhard
dc.contributor.authorBang, Lia E
dc.contributor.authorBenn, Marianne
dc.contributor.authorBergmann, Sven
dc.contributor.authorBielak, Lawrence F
dc.contributor.authorBlueher, Matthias
dc.contributor.authorBoeing, Heiner
dc.contributor.authorBoerwinkle, Eric
dc.contributor.authorBoeger, Carsten A
dc.contributor.authorBonnycastle, Lori L
dc.contributor.authorBork-Jensen, Jette
dc.contributor.authorBots, Michiel L
dc.contributor.authorBottinger, Erwin P
dc.contributor.authorBowden, Donald W
dc.contributor.authorBrandslund, Ivan
dc.contributor.authorBreen, Gerome
dc.contributor.authorBrilliant, Murray H
dc.contributor.authorBroer, Linda
dc.contributor.authorBurt, Amber A
dc.contributor.authorButterworth, Adam S
dc.contributor.authorCarey, David J
dc.contributor.authorCaulfield, Mark J
dc.contributor.authorChambers, John C
dc.contributor.authorChasman, Daniel I
dc.contributor.authorChen, Yii-Der Ida
dc.contributor.authorChowdhury, Rajiv
dc.contributor.authorChristensen, Cramer
dc.contributor.authorChu, Audrey Y
dc.contributor.authorCocca, Massimiliano
dc.contributor.authorCollins, Francis S
dc.contributor.authorCook, James P
dc.contributor.authorCorley, Janie
dc.contributor.authorGalbany, Jordi Corominas
dc.contributor.authorCox, Amanda J
dc.contributor.authorCuellar-Partida, Gabriel
dc.contributor.authorDanesh, John
dc.contributor.authorDavies, Gail
dc.contributor.authorde Bakker, Paul IW
dc.contributor.authorde Borst, Gert J
dc.contributor.authorde Denus, Simon
dc.contributor.authorde Groot, Mark CH
dc.contributor.authorde Mutsert, Renee
dc.contributor.authorDeary, Ian J
dc.contributor.authorDedoussis, George
dc.contributor.authorDemerath, Ellen W
dc.contributor.authorden Hollander, Anneke I
dc.contributor.authorDennis, Joe G
dc.contributor.authorDi Angelantonio, Emanuele
dc.contributor.authorDrenos, Fotios
dc.contributor.authorDu, Mengmeng
dc.contributor.authorDunning, Alison M
dc.contributor.authorEaston, Douglas F
dc.contributor.authorEbeling, Tapani
dc.contributor.authorEdwards, Todd L
dc.contributor.authorEllinor, Patrick T
dc.contributor.authorElliott, Paul
dc.contributor.authorEvangelou, Evangelos
dc.contributor.authorFarmaki, Aliki-Eleni
dc.contributor.authorFaul, Jessica D
dc.contributor.authorFeitosa, Mary F
dc.contributor.authorFeng, Shuang
dc.contributor.authorFerrannini, Ele
dc.contributor.authorFerrario, Marco M
dc.contributor.authorFerrieres, Jean
dc.contributor.authorFlorez, Jose C
dc.contributor.authorFord, Ian
dc.contributor.authorFornage, Myriam
dc.contributor.authorFranks, Paul W
dc.contributor.authorFrikke-Schmidt, Ruth
dc.contributor.authorGalesloot, Tessel E
dc.contributor.authorGan, Wei
dc.contributor.authorGandin, Ilaria
dc.contributor.authorGasparini, Paolo
dc.contributor.authorGiedraitis, Vilmantas
dc.contributor.authorGiri, Ayush
dc.contributor.authorGirotto, Giorgia
dc.contributor.authorGordon, Scott D
dc.contributor.authorGordon-Larsen, Penny
dc.contributor.authorGorski, Mathias
dc.contributor.authorGrarup, Niels
dc.contributor.authorGrove, Megan L
dc.contributor.authorGudnason, Vilmundur
dc.contributor.authorGustafsson, Stefan
dc.contributor.authorHansen, Torben
dc.contributor.authorHarris, Kathleen Mullan
dc.contributor.authorHarris, Tamara B
dc.contributor.authorHattersley, Andrew T
dc.contributor.authorHayward, Caroline
dc.contributor.authorHe, Liang
dc.contributor.authorHeid, Iris M
dc.contributor.authorHeikkila, Kauko
dc.contributor.authorHelgeland, Oyvind
dc.contributor.authorHernesniemi, Jussi
dc.contributor.authorHewitt, Alex W
dc.contributor.authorHocking, Lynne J
dc.contributor.authorHollensted, Mette
dc.contributor.authorHolmen, Oddgeir L
dc.contributor.authorHovingh, G Kees
dc.contributor.authorHowson, Joanna MM
dc.contributor.authorHoyng, Carel B
dc.contributor.authorHuang, Paul L
dc.contributor.authorHveem, Kristian
dc.contributor.authorIkram, M Arfan
dc.contributor.authorIngelsson, Erik
dc.contributor.authorJackson, Anne U
dc.contributor.authorJansson, Jan-Hakan
dc.contributor.authorJarvik, Gail P
dc.contributor.authorJensen, Gorm B
dc.contributor.authorJhun, Min A
dc.contributor.authorJia, Yucheng
dc.contributor.authorJiang, Xuejuan
dc.contributor.authorJohansson, Stefan
dc.contributor.authorJorgensen, Marit E
dc.contributor.authorJorgensen, Torben
dc.contributor.authorJousilahti, Pekka
dc.contributor.authorJukema, J Wouter
dc.contributor.authorKahali, Bratati
dc.contributor.authorKahn, Rene S
dc.contributor.authorKahonen, Mika
dc.contributor.authorKamstrup, Pia R
dc.contributor.authorKanoni, Stavroula
dc.contributor.authorKaprio, Jaakko
dc.contributor.authorKaraleftheri, Maria
dc.contributor.authorKardia, Sharon LR
dc.contributor.authorKarpe, Fredrik
dc.contributor.authorKee, Frank
dc.contributor.authorKeeman, Renske
dc.contributor.authorKiemeney, Lambertus A
dc.contributor.authorKitajima, Hidetoshi
dc.contributor.authorKluivers, Kirsten B
dc.contributor.authorKocher, Thomas
dc.contributor.authorKomulainen, Pirjo
dc.contributor.authorKontto, Jukka
dc.contributor.authorKooner, Jaspal S
dc.contributor.authorKooperberg, Charles
dc.contributor.authorKovacs, Peter
dc.contributor.authorKriebel, Jennifer
dc.contributor.authorKuivaniemi, Helena
dc.contributor.authorKury, Sebastien
dc.contributor.authorKuusisto, Johanna
dc.contributor.authorLa Bianca, Martina
dc.contributor.authorLaakso, Markku
dc.contributor.authorLakka, Timo A
dc.contributor.authorLange, Ethan M
dc.contributor.authorLange, Leslie A
dc.contributor.authorLangefeld, Carl D
dc.contributor.authorLangenberg, Claudia
dc.contributor.authorLarson, Eric B
dc.contributor.authorLee, I-Te
dc.contributor.authorLehtimaki, Terho
dc.contributor.authorLewis, Cora E
dc.contributor.authorLi, Huaixing
dc.contributor.authorLi, Jin
dc.contributor.authorLi-Gao, Ruifang
dc.contributor.authorLin, Honghuang
dc.contributor.authorLin, Li-An
dc.contributor.authorLin, Xu
dc.contributor.authorLind, Lars
dc.contributor.authorLindstrom, Jaana
dc.contributor.authorLinneberg, Allan
dc.contributor.authorLiu, Yeheng
dc.contributor.authorLiu, Yongmei
dc.contributor.authorLophatananon, Artitaya
dc.contributor.authorLuan, Jian'an
dc.contributor.authorLubitz, Steven A
dc.contributor.authorLyytikainen, Leo-Pekka
dc.contributor.authorMackey, David A
dc.contributor.authorMadden, Pamela AF
dc.contributor.authorManning, Alisa K
dc.contributor.authorMannisto, Satu
dc.contributor.authorMarenne, Gaelle
dc.contributor.authorMarten, Jonathan
dc.contributor.authorMartin, Nicholas G
dc.contributor.authorMazul, Angela L
dc.contributor.authorMeidtner, Karina
dc.contributor.authorMetspalu, Andres
dc.contributor.authorMitchell, Paul
dc.contributor.authorMohlke, Karen L
dc.contributor.authorMook-Kanamori, Dennis O
dc.contributor.authorMorgan, Anna
dc.contributor.authorMorris, Andrew D
dc.contributor.authorMorris, Andrew P
dc.contributor.authorMueller-Nurasyid, Martina
dc.contributor.authorMunroe, Patricia B
dc.contributor.authorNalls, Mike A
dc.contributor.authorNauck, Matthias
dc.contributor.authorNelson, Christopher P
dc.contributor.authorNelson, Christopher P
dc.contributor.authorNeville, Matt
dc.contributor.authorNielsen, Sune F
dc.contributor.authorNikus, Kjell
dc.contributor.authorNjolstad, Pal R
dc.contributor.authorNordestgaard, Borge G
dc.contributor.authorNtalla, Ioanna
dc.contributor.authorO'Connel, Jeffrey R
dc.contributor.authorOksa, Heikki
dc.contributor.authorLoohuis, Loes M Olde
dc.contributor.authorOphoff, Roel A
dc.contributor.authorOwen, Katharine R
dc.contributor.authorPackard, Chris J
dc.contributor.authorPadmanabhan, Sandosh
dc.contributor.authorPalmer, Colin NA
dc.contributor.authorPasterkamp, Gerard
dc.contributor.authorPatel, Aniruddh P
dc.contributor.authorPattie, Alison
dc.contributor.authorPedersen, Oluf
dc.contributor.authorPeissig, Peggy L
dc.contributor.authorPeloso, Gina M
dc.contributor.authorPennell, Craig E
dc.contributor.authorPerola, Markus
dc.contributor.authorPerry, James A
dc.contributor.authorPerry, John RB
dc.contributor.authorPerson, Thomas N
dc.contributor.authorPirie, Ailith
dc.contributor.authorPolasek, Ozren
dc.contributor.authorPosthuma, Danielle
dc.contributor.authorRaitakari, Olli T
dc.contributor.authorRasheed, Asif
dc.contributor.authorRauramaa, Rainer
dc.contributor.authorReilly, Dermot F
dc.contributor.authorReiner, Alex P
dc.contributor.authorRenstrom, Frida
dc.contributor.authorRidker, Paul M
dc.contributor.authorRioux, John D
dc.contributor.authorRobertson, Neil
dc.contributor.authorRobino, Antonietta
dc.contributor.authorRolandsson, Olov
dc.contributor.authorRudan, Igor
dc.contributor.authorRuth, Katherine S
dc.contributor.authorSaleheen, Danish
dc.contributor.authorSalomaa, Veikko
dc.contributor.authorSamani, Nilesh J
dc.contributor.authorSandow, Kevin
dc.contributor.authorSapkota, Yadav
dc.contributor.authorSattar, Naveed
dc.contributor.authorSchmidt, Marjanka K
dc.contributor.authorSchreiner, Pamela J
dc.contributor.authorSchulze, Matthias B
dc.contributor.authorScott, Robert A
dc.contributor.authorSegura-Lepe, Marcelo P
dc.contributor.authorShah, Svati
dc.contributor.authorSim, Xueling
dc.contributor.authorSivapalaratnam, Suthesh
dc.contributor.authorSmall, Kerrin S
dc.contributor.authorSmith, Albert Vernon
dc.contributor.authorSmith, Jennifer A
dc.contributor.authorSoutham, Lorraine
dc.contributor.authorSpector, Timothy D
dc.contributor.authorSpeliotes, Elizabeth K
dc.contributor.authorStarr, John M
dc.contributor.authorSteinthorsdottir, Valgerdur
dc.contributor.authorStringham, Heather M
dc.contributor.authorStumvoll, Michael
dc.contributor.authorSurendran, Praveen
dc.contributor.author't Hart, Leen M
dc.contributor.authorTansey, Katherine E
dc.contributor.authorTardif, Jean-Claude
dc.contributor.authorTaylor, Kent D
dc.contributor.authorTeumer, Alexander
dc.contributor.authorThompson, Deborah J
dc.contributor.authorThorsteinsdottir, Unnur
dc.contributor.authorThuesen, Betina H
dc.contributor.authorToenjes, Anke
dc.contributor.authorTromp, Gerard
dc.contributor.authorTrompet, Stella
dc.contributor.authorTsafantakis, Emmanouil
dc.contributor.authorTuomilehto, Jaakko
dc.contributor.authorTybjaerg-Hansen, Anne
dc.contributor.authorTyrer, Jonathan P
dc.contributor.authorUher, Rudolf
dc.contributor.authorUitterlinden, Andre G
dc.contributor.authorUlivi, Sheila
dc.contributor.authorvan der Laan, Sander W
dc.contributor.authorVan Der Leij, Andries R
dc.contributor.authorvan Duijn, Cornelia M
dc.contributor.authorvan Schoor, Natasja M
dc.contributor.authorvan Setten, Jessica
dc.contributor.authorVarbo, Anette
dc.contributor.authorVarga, Tibor V
dc.contributor.authorVarma, Rohit
dc.contributor.authorEdwards, Digna R Velez
dc.contributor.authorVermeulen, Sita H
dc.contributor.authorVestergaard, Henrik
dc.contributor.authorVitart, Veronique
dc.contributor.authorVogt, Thomas F
dc.contributor.authorVozzi, Diego
dc.contributor.authorWalker, Mark
dc.contributor.authorWang, Feijie
dc.contributor.authorWang, Carol A
dc.contributor.authorWang, Shuai
dc.contributor.authorWang, Yiqin
dc.contributor.authorWareham, Nicholas J
dc.contributor.authorWarren, Helen R
dc.contributor.authorWessel, Jennifer
dc.contributor.authorWillems, Sara M
dc.contributor.authorWilson, James G
dc.contributor.authorWitte, Daniel R
dc.contributor.authorWoods, Michael O
dc.contributor.authorWu, Ying
dc.contributor.authorYaghootkar, Hanieh
dc.contributor.authorYao, Jie
dc.contributor.authorYao, Pang
dc.contributor.authorYerges-Armstrong, Laura M
dc.contributor.authorYoung, Robin
dc.contributor.authorZeggini, Eleftheria
dc.contributor.authorZhan, Xiaowei
dc.contributor.authorZhang, Weihua
dc.contributor.authorZhao, Jing Hua
dc.contributor.authorZhao, Wei
dc.contributor.authorZhao, Wei
dc.contributor.authorZheng, He
dc.contributor.authorZhou, Wei
dc.contributor.authorRotter, Jerome I
dc.contributor.authorBoehnke, Michael
dc.contributor.authorKathiresan, Sekar
dc.contributor.authorMcCarthy, Mark I
dc.contributor.authorWiller, Cristen J
dc.contributor.authorStefansson, Kari
dc.contributor.authorBorecki, Ingrid B
dc.contributor.authorLiu, Dajiang J
dc.contributor.authorNorth, Kari E
dc.contributor.authorHeard-Costa, Nancy L
dc.contributor.authorPers, Tune H
dc.contributor.authorLindgren, Cecilia M
dc.contributor.authorOxvig, Claus
dc.contributor.authorKutalik, Zoltan
dc.contributor.authorRivadeneira, Fernando
dc.contributor.authorLoos, Ruth JF
dc.contributor.authorFrayling, Timothy M
dc.contributor.authorHirschhorn, Joel N
dc.contributor.authorDeloukas, Panos
dc.contributor.authorLettre, Guillaume
dc.date.accessioned2017-07-25T12:31:16Z
dc.date.available2017-07-25T12:31:16Z
dc.date.issued2017
dc.identifier.issn0028-0836
dc.identifier.doi10.1038/nature21039
dc.identifier.urihttp://hdl.handle.net/10072/340421
dc.description.abstractHeight 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.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherNature Publishing
dc.relation.ispartofpagefrom186
dc.relation.ispartofpageto190
dc.relation.ispartofissue7640
dc.relation.ispartofjournalNature
dc.relation.ispartofvolume542
dc.subject.fieldofresearchGenetics not elsewhere classified
dc.subject.fieldofresearchcode060499
dc.titleRare and low-frequency coding variants alter human adult height
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
gro.hasfulltextNo Full Text
gro.griffith.authorCox, Amanda J.


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