GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.
Scientific Reports
Christakoudi, Sofia S; Evangelou, Evangelos E; Riboli, Elio E; Tsilidis, Konstantinos K KK
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
RSPO3 impacts body fat distribution and regulates adipose cell biology in vitro.
Nature Communications
Loh, Nellie Y NY; Minchin, James E N JEN; Pinnick, Katherine E KE; Verma, Manu M; Todorčević, Marijana M; Denton, Nathan N; Moustafa, Julia El-Sayed JE; Kemp, John P JP; Gregson, Celia L CL; Evans, David M DM; Neville, Matt J MJ; Small, Kerrin S KS; McCarthy, Mark I MI; Mahajan, Anubha A; Rawls, John F JF; Karpe, Fredrik F; Christodoulides, Constantinos C
GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures.
Nature Communications
Styrkarsdottir, Unnur U; Stefansson, Olafur A OA; Gunnarsdottir, Kristbjorg K; Thorleifsson, Gudmar G; Lund, Sigrun H SH; Stefansdottir, Lilja L; Juliusson, Kristinn K; Agustsdottir, Arna B AB; Zink, Florian F; Halldorsson, Gisli H GH; Ivarsdottir, Erna V EV; Benonisdottir, Stefania S; Jonsson, Hakon H; Gylfason, Arnaldur A; Norland, Kristjan K; Trajanoska, Katerina K; Boer, Cindy G CG; Southam, Lorraine L; Leung, Jason C S JCS; Tang, Nelson L S NLS; Kwok, Timothy C Y TCY; Lee, Jenny S W JSW; Ho, Suzanne C SC; Byrjalsen, Inger I; Center, Jacqueline R JR; Lee, Seung Hun SH; Koh, Jung-Min JM; Lohmander, L Stefan LS; Ho-Pham, Lan T LT; Nguyen, Tuan V TV; Eisman, John A JA; Woo, Jean J; Leung, Ping-C PC; Loughlin, John J; Zeggini, Eleftheria E; Christiansen, Claus C; Rivadeneira, Fernando F; van Meurs, Joyce J; Uitterlinden, Andre G AG; Mogensen, Brynjolfur B; Jonsson, Helgi H; Ingvarsson, Thorvaldur T; Sigurdsson, Gunnar G; Benediktsson, Rafn R; Sulem, Patrick P; Jonsdottir, Ingileif I; Masson, Gisli G; Holm, Hilma H; Norddahl, Gudmundur L GL; Thorsteinsdottir, Unnur U; Gudbjartsson, Daniel F DF; Stefansson, Kari K
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
American Journal Of Human Genetics
Tachmazidou, Ioanna I; Süveges, Dániel D; Min, Josine L JL; Ritchie, Graham R S GRS; Steinberg, Julia J; Walter, Klaudia K; Iotchkova, Valentina V; Schwartzentruber, Jeremy J; Huang, Jie J; Memari, Yasin Y; McCarthy, Shane S; Crawford, Andrew A AA; Bombieri, Cristina C; Cocca, Massimiliano M; Farmaki, Aliki-Eleni AE; Gaunt, Tom R TR; Jousilahti, Pekka P; Kooijman, Marjolein N MN; Lehne, Benjamin B; Malerba, Giovanni G; Männistö, Satu S; Matchan, Angela A; Medina-Gomez, Carolina C; Metrustry, Sarah J SJ; Nag, Abhishek A; Ntalla, Ioanna I; Paternoster, Lavinia L; Rayner, Nigel W NW; Sala, Cinzia C; Scott, William R WR; Shihab, Hashem A HA; Southam, Lorraine L; St Pourcain, Beate B; Traglia, Michela M; Trajanoska, Katerina K; Zaza, Gialuigi G; Zhang, Weihua W; Artigas, María S MS; Bansal, Narinder N; Benn, Marianne M; Chen, Zhongsheng Z; Danecek, Petr P; Lin, Wei-Yu WY; Locke, Adam A; Luan, Jian'an J; Manning, Alisa K AK; Mulas, Antonella A; Sidore, Carlo C; Tybjaerg-Hansen, Anne A; Varbo, Anette A; Zoledziewska, Magdalena M; Finan, Chris C; Hatzikotoulas, Konstantinos K; Hendricks, Audrey E AE; Kemp, John P JP; Moayyeri, Alireza A; Panoutsopoulou, Kalliope K; Szpak, Michal M; Wilson, Scott G SG; Boehnke, Michael M; Cucca, Francesco F; Di Angelantonio, Emanuele E; Langenberg, Claudia C; Lindgren, Cecilia C; McCarthy, Mark I MI; Morris, Andrew P AP; Nordestgaard, Børge G BG; Scott, Robert A RA; Tobin, Martin D MD; Wareham, Nicholas J NJ; , ; , ; Burton, Paul P; Chambers, John C JC; Smith, George Davey GD; Dedoussis, George G; Felix, Janine F JF; Franco, Oscar H OH; Gambaro, Giovanni G; Gasparini, Paolo P; Hammond, Christopher J CJ; Hofman, Albert A; Jaddoe, Vincent W V VWV; Kleber, Marcus M; Kooner, Jaspal S JS; Perola, Markus M; Relton, Caroline C; Ring, Susan M SM; Rivadeneira, Fernando F; Salomaa, Veikko V; Spector, Timothy D TD; Stegle, Oliver O; Toniolo, Daniela D; Uitterlinden, André G AG; , ; , ; , ; Barroso, Inês I; Greenwood, Celia M T CMT; Perry, John R B JRB; Walker, Brian R BR; Butterworth, Adam S AS; Xue, Yali Y; Durbin, Richard R; Small, Kerrin S KS; Soranzo, Nicole N; Timpson, Nicholas J NJ; Zeggini, Eleftheria E
Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.
Nature Communications
Styrkarsdottir, Unnur U; Thorleifsson, Gudmar G; Gudjonsson, Sigurjon A SA; Sigurdsson, Asgeir A; Center, Jacqueline R JR; Lee, Seung Hun SH; Nguyen, Tuan V TV; Kwok, Timothy C Y TCY; Lee, Jenny S W JSW; Ho, Suzanne C SC; Woo, Jean J; Leung, Ping-C PC; Kim, Beom-Jun BJ; Rafnar, Thorunn T; Kiemeney, Lambertus A LA; Ingvarsson, Thorvaldur T; Koh, Jung-Min JM; Tang, Nelson L S NLS; Eisman, John A JA; Christiansen, Claus C; Sigurdsson, Gunnar G; Thorsteinsdottir, Unnur U; Stefansson, Kari K