作者
Anne E Justice, Tugce Karaderi, Heather M Highland, Kristin L Young, Mariaelisa Graff, Yingchang Lu, Valérie Turcot, Paul L Auer, Rebecca S Fine, Xiuqing Guo, Claudia Schurmann, Adelheid Lempradl, Eirini Marouli, Anubha Mahajan, Thomas W Winkler, Adam E Locke, Carolina Medina-Gomez, Tõnu Esko, Sailaja Vedantam, Ayush Giri, Ken Sin Lo, Tamuno Alfred, Poorva Mudgal, Maggie CY Ng, Nancy L Heard-Costa, Mary F Feitosa, Alisa K Manning, Sara M Willems, Suthesh Sivapalaratnam, Goncalo Abecasis, Dewan S Alam, Matthew Allison, Philippe Amouyel, Zorayr Arzumanyan, Beverley Balkau, Lisa Bastarache, Sven Bergmann, Lawrence F Bielak, Matthias Blüher, Michael Boehnke, Heiner Boeing, Eric Boerwinkle, Carsten A Böger, Jette Bork-Jensen, Erwin P Bottinger, Donald W Bowden, Ivan Brandslund, Linda Broer, Amber A Burt, Adam S Butterworth, Mark J Caulfield, Giancarlo Cesana, John C Chambers, Daniel I Chasman, Yii-Der Ida Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, Francis S Collins, James P Cook, Amanda J Cox, David S Crosslin, John Danesh, Paul IW de Bakker, Simon de Denus, Renée de Mutsert, George Dedoussis, Ellen W Demerath, Joe G Dennis, Josh C Denny, Emanuele Di Angelantonio, Marcus Dörr, Fotios Drenos, Marie-Pierre Dubé, Alison M Dunning, Douglas F Easton, Paul Elliott, Evangelos Evangelou, Aliki-Eleni Farmaki, Shuang Feng, Ele Ferrannini, Jean Ferrieres, Jose C Florez, Myriam Fornage, Caroline S Fox, Paul W Franks, Nele Friedrich, Wei Gan, Ilaria Gandin, Paolo Gasparini, Vilmantas Giedraitis, Giorgia Girotto, Mathias Gorski, Harald Grallert, Niels Grarup, Megan L Grove, Stefan Gustafsson, Jeff Haessler, Torben Hansen, Andrew T Hattersley, Caroline Hayward, Iris M Heid, Oddgeir L Holmen, G Kees Hovingh, Joanna MM Howson, Yao Hu, Yi-Jen Hung, Kristian Hveem, M Arfan Ikram, Erik Ingelsson, Anne U Jackson, Gail P Jarvik, Yucheng Jia, Torben Jørgensen, Pekka Jousilahti, Johanne M Justesen, Bratati Kahali, Maria Karaleftheri, Sharon LR Kardia, Fredrik Karpe, Frank Kee, Hidetoshi Kitajima, Pirjo Komulainen, Jaspal S Kooner, Peter Kovacs, Bernhard K Krämer, Kari Kuulasmaa, Johanna Kuusisto, Markku Laakso, Timo A Lakka, David Lamparter, Leslie A Lange, Claudia Langenberg, Eric B Larson, Nanette R Lee, Wen-Jane Lee, Terho Lehtimäki, Cora E Lewis, Huaixing Li, Jin Li, Ruifang Li-Gao, Li-An Lin, Xu Lin, Lars Lind, Jaana Lindström, Allan Linneberg, Ching-Ti Liu, Dajiang J Liu, Jian’an Luan, Leo-Pekka Lyytikäinen
发表日期
2019/3
期刊
Nature genetics
卷号
51
期号
3
页码范围
452-469
出版商
Nature Publishing Group US
简介
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 <5%) coding novel variants. Pathway/gene set enrichment analyses identified lipid particle, adiponectin, abnormal white adipose tissue physiology and bone development and morphology as important contributors to fat distribution, while cross-trait associations highlight cardiometabolic traits. In functional follow-up analyses, specifically in Drosophila RNAi-knockdowns, we observed a significant increase in the total …
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AE Justice, T Karaderi, HM Highland, KL Young… - Nature genetics, 2019