Sökning: onr:"swepub:oai:DiVA.org:umu-157574" > Protein-coding vari...
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001 | oai:DiVA.org:umu-157574 | |
003 | SwePub | |
008 | 190401s2019 | |||||||||||000 ||eng| | |
009 | oai:DiVA.org:uu-379344 | |
009 | oai:lup.lub.lu.se:e480e762-4ec0-490f-8de5-8201f81cca66 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1575742 URI |
024 | 7 | a https://doi.org/10.1038/s41588-018-0334-22 DOI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3793442 URI |
024 | 7 | a https://lup.lub.lu.se/record/e480e762-4ec0-490f-8de5-8201f81cca662 URI |
040 | a (SwePub)umud (SwePub)uud (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
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100 | 1 | a Justice, Anne E.u University of North Carolina,Geisinger Health System4 aut |
245 | 1 0 | a Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution |
264 | c 2019-02-18 | |
264 | 1 | b Nature Publishing Group,c 2019 |
338 | a print2 rdacarrier | |
500 | a For complete list of authors see http://dx.doi.org/10.1038/s41588-018-0334-2 | |
520 | a 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 body triglyceride levels for two genes (DNAH10 and PLXND1). We implicate novel genes in fat distribution, stressing the importance of interrogating low-frequency and protein-coding variants. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
700 | 1 | a Karaderi, Tugce4 aut |
700 | 1 | a Highland, Heather M.4 aut |
700 | 1 | a Lind, Larsu Uppsala universitet,Klinisk epidemiologi4 aut0 (Swepub:uu)larslind |
700 | 1 | a Graff, Mariaelisa4 aut |
700 | 1 | a Lu, Yingchang4 aut |
700 | 1 | a Turcot, Valerie4 aut |
700 | 1 | a Auer, Paul L.4 aut |
700 | 1 | a Fine, Rebecca S.4 aut |
700 | 1 | a Guo, Xiuqing4 aut |
700 | 1 | a Schurmann, Claudia4 aut |
700 | 1 | a Lempradl, Adelheid4 aut |
700 | 1 | a Marouli, Eirini4 aut |
700 | 1 | a Mahajan, Anubha4 aut |
700 | 1 | a Winkler, Thomas W.4 aut |
700 | 1 | a Locke, Adam E.4 aut |
700 | 1 | a Medina-Gomez, Carolina4 aut |
700 | 1 | a Esko, Tonu4 aut |
700 | 1 | a Vedantam, Sailaja4 aut |
700 | 1 | a Giri, Ayush4 aut |
700 | 1 | a Lo, Ken Sin4 aut |
700 | 1 | a Alfred, Tamuno4 aut |
700 | 1 | a Mudgal, Poorva4 aut |
700 | 1 | a Ng, Maggie C. Y.4 aut |
700 | 1 | a Heard-Costa, Nancy L.4 aut |
700 | 1 | a Feitosa, Mary F.4 aut |
700 | 1 | a Manning, Alisa K.4 aut |
700 | 1 | a Willems, Sara M.4 aut |
700 | 1 | a Sivapalaratnam, Suthesh4 aut |
700 | 1 | a Abecasis, Goncalo4 aut |
700 | 1 | a Alam, Dewan S.4 aut |
700 | 1 | a Allison, Matthew4 aut |
700 | 1 | a Amouyel, Philippe4 aut |
700 | 1 | a Arzumanyanm, Zorayr4 aut |
700 | 1 | a Balkau, Beverley4 aut |
700 | 1 | a Bastarache, Lisa4 aut |
700 | 1 | a Bergmann, Sven4 aut |
700 | 1 | a Bielak, Lawrence F.4 aut |
700 | 1 | a Blueher, Matthias4 aut |
700 | 1 | a Boehnke, Michael4 aut |
700 | 1 | a Boeing, Heiner4 aut |
700 | 1 | a Boerwinkle, Eric4 aut |
700 | 1 | a Boeger, Carsten A.4 aut |
700 | 1 | a Bork-Jensen, Jette4 aut |
700 | 1 | a Bottinger, Erwin P.4 aut |
700 | 1 | a Bowden, Donald W.4 aut |
700 | 1 | a Brandslund, Ivan4 aut |
700 | 1 | a Broer, Linda4 aut |
700 | 1 | a Burt, Amber A.4 aut |
700 | 1 | a Butterworth, Adam S.4 aut |
700 | 1 | a Caulfield, Markj4 aut |
700 | 1 | a Cesana, Giancarlo4 aut |
700 | 1 | a Chambers, John C.4 aut |
700 | 1 | a Chasman, Daniel, I4 aut |
700 | 1 | a Chen, Yii-Der Ida4 aut |
700 | 1 | a Chowdhury, Rajiv4 aut |
700 | 1 | a Christensen, Cramer4 aut |
700 | 1 | a Chu, Audreyy4 aut |
700 | 1 | a Collins, Francis S.4 aut |
700 | 1 | a Cook, James P.4 aut |
700 | 1 | a Cox, Amanda J.4 aut |
700 | 1 | a Crosslin, David S.4 aut |
700 | 1 | a Danesh, John4 aut |
700 | 1 | a de Bakker, Paul I. W.4 aut |
700 | 1 | a de Denus, Simon4 aut |
700 | 1 | a de Mutsert, Renee4 aut |
700 | 1 | a Dedoussis, George4 aut |
700 | 1 | a Demerath, Ellen W.4 aut |
700 | 1 | a Dennis, Joe G.4 aut |
700 | 1 | a Denny, Josh C.4 aut |
700 | 1 | a Di Angelantonio, Emanuele4 aut |
700 | 1 | a Doerr, Marcus4 aut |
700 | 1 | a Drenos, Fotios4 aut |
700 | 1 | a Dube, Marie-Pierre4 aut |
700 | 1 | a Dunning, Alison M.4 aut |
700 | 1 | a Easton, Douglas F.4 aut |
700 | 1 | a Elliott, Paul4 aut |
700 | 1 | a Evangelou, Evangelosu University of North Carolina4 aut |
700 | 1 | a Farmaki, Aliki-Eleni4 aut |
700 | 1 | a Feng, Shuang4 aut |
700 | 1 | a Ferrannini, Ele4 aut |
700 | 1 | a Ferrieres, Jean4 aut |
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700 | 1 | a Franks, Paul W.u Umeå University,Lund University,Lunds universitet,Umeå universitet,Avdelningen för medicin,Department of Clinical Sciences, Genetic and Molecular Epidemiology Unit, Lund University, Malmo, Sweden; Department of Nutrition, Harvard School of Public Health, Boston, MA, USA,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-plf |
700 | 1 | a Friedrich, Nele4 aut |
700 | 1 | a Gan, Wei4 aut |
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700 | 1 | a Groves, Megan L.4 aut |
700 | 1 | a Gustafsson, Stefanu Uppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär epidemiologi4 aut0 (Swepub:uu)stegu732 |
700 | 1 | a Haessler, Jeff4 aut |
700 | 1 | a Hansen, Torben4 aut |
700 | 1 | a Hattersley, Andrew T.4 aut |
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700 | 1 | a Ingelsson, Erik,d 1975-u Uppsala universitet,Molekylär epidemiologi,Science for Life Laboratory, SciLifeLab,Stanford Cardiovascular Institute, Stanford University, Stanford, CA, USA4 aut0 (Swepub:uu)ering425 |
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700 | 1 | a Moitry, Marieu University of Oxford4 aut |
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710 | 2 | a University of North Carolinab Geisinger Health System4 org |
710 | 2 | a et al. |
773 | 0 | t Nature Geneticsd : Nature Publishing Groupg 51:3, s. 452-469q 51:3<452-469x 1061-4036x 1546-1718 |
856 | 4 | u https://api.research-repository.uwa.edu.au/ws/files/69275631/AAM_Protein_coding_variants_implicates.pdf |
856 | 4 | u http://dx.doi.org/10.1038/s41588-018-0334-2y FULLTEXT |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-157574 |
856 | 4 8 | u https://doi.org/10.1038/s41588-018-0334-2 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-379344 |
856 | 4 8 | u https://lup.lub.lu.se/record/e480e762-4ec0-490f-8de5-8201f81cca66 |
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