학술논문
Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution
Document Type
article
Author
Justice, Anne E; Karaderi, Tugce; Highland, Heather M; Young, Kristin L; Graff, Mariaelisa; Lu, Yingchang; Turcot, Valérie; Auer, Paul L; Fine, Rebecca S; Guo, Xiuqing; Schurmann, Claudia; Lempradl, Adelheid; Marouli, Eirini; Mahajan, Anubha; Winkler, Thomas W; Locke, Adam E; Medina-Gomez, Carolina; Esko, Tõnu; Vedantam, Sailaja; Giri, Ayush; Lo, Ken Sin; Alfred, Tamuno; Mudgal, Poorva; Ng, Maggie CY; Heard-Costa, Nancy L; Feitosa, Mary F; Manning, Alisa K; Willems, Sara M; Sivapalaratnam, Suthesh; Abecasis, Goncalo; Alam, Dewan S; Allison, Matthew; Amouyel, Philippe; Arzumanyan, Zorayr; Balkau, Beverley; Bastarache, Lisa; Bergmann, Sven; Bielak, Lawrence F; Blüher, Matthias; Boehnke, Michael; Boeing, Heiner; Boerwinkle, Eric; Böger, Carsten A; Bork-Jensen, Jette; Bottinger, Erwin P; Bowden, Donald W; Brandslund, Ivan; Broer, Linda; Burt, Amber A; Butterworth, Adam S; Caulfield, Mark J; Cesana, Giancarlo; Chambers, John C; Chasman, Daniel I; Chen, Yii-Der Ida; Chowdhury, Rajiv; Christensen, Cramer; Chu, Audrey Y; Collins, Francis S; Cook, James P; Cox, Amanda J; Crosslin, David S; Danesh, John; de Bakker, Paul IW; Denus, Simon de; Mutsert, Renée de; Dedoussis, George; Demerath, Ellen W; Dennis, Joe G; Denny, Josh C; Di Angelantonio, Emanuele; Dörr, Marcus; Drenos, Fotios; Dubé, Marie-Pierre; Dunning, Alison M; Easton, Douglas F; Elliott, Paul; Evangelou, Evangelos; Farmaki, Aliki-Eleni; Feng, Shuang; Ferrannini, Ele; Ferrieres, Jean; Florez, Jose C; Fornage, Myriam; Fox, Caroline S; Franks, Paul W; Friedrich, Nele; Gan, Wei; Gandin, Ilaria; Gasparini, Paolo; Giedraitis, Vilmantas; Girotto, Giorgia; Gorski, Mathias; Grallert, Harald; Grarup, Niels; Grove, Megan L; Gustafsson, Stefan; Haessler, Jeff; Hansen, Torben; Hattersley, Andrew T
Source
Nature Genetics. 51(3)
Subject
Language
Abstract
Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF