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  Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Turcot, V., Lu, Y., Highland, H. M., Schurmann, C., Justice, A. E., Fine, R. S., et al. (2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics, 50, 26-41. doi:org/10-1038/s41588-017-0011-x.

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Datensatz-Permalink: https://hdl.handle.net/21.11116/0000-0002-7182-B Versions-Permalink: https://hdl.handle.net/21.11116/0000-0002-7183-A
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Turcot, Valérie1, Autor
Lu, Yingchang1, Autor
Highland, Heather M.1, Autor
Schurmann, Claudia1, Autor
Justice, Anne E.1, Autor
Fine, Rebecca S.1, Autor
Bradfield, Jonathan P.1, Autor
Esko, Tõnu1, Autor
Giri, Ayush1, Autor
Graff, Mariaelisa1, Autor
Guo, Xiuqing1, Autor
Hendricks, Audrey E.1, Autor
Karaderi, Tugce1, Autor
Lempradl, Adelheid2, Autor
Locke, Adam E.1, Autor
Mahajan, Anubha1, Autor
Marouli, Eirini1, Autor
Sivapalaratnam, Suthesh1, Autor
Young, Kristin L.1, Autor
Alfred, Tamuno1, Autor
Feitosa, Mary F.1, AutorMasca, Nicholas G. D.1, AutorManning, Alisa K.1, AutorMedina-Gomez, Carolina1, AutorMudgal, Poorva1, AutorNg, Maggie C. Y.1, AutorReiner, Alex P.1, AutorVedantam, Sailaja1, AutorWillems, Sara M.1, AutorWinkler, Thomas W.1, AutorAbecasis, Gonçalo1, AutorAben, Katja K.1, AutorAlam, Dewan S.1, AutorAlharthi, Sameer E.1, AutorAllison, Matthew1, AutorAmouyel, Philippe1, AutorAsselbergs, Folkert W.1, AutorAuer, Paul L.1, AutorBalkau, Beverley1, AutorBang, Lia E.1, AutorBarroso, Inês1, AutorBastarache, Lisa1, AutorBenn, Marianne1, AutorBergmann, Sven1, AutorBielak, Lawrence F.1, AutorBlüher, Matthias1, AutorBoehnke, Michael1, AutorBoeing, Heiner1, AutorBoerwinkle, Eric1, AutorBöger, Carsten A.1, AutorBork-Jensen, Jette1, AutorBots, Michiel L.1, AutorBottinger, Erwin P.1, AutorBowden, Donald W.1, AutorBrandslund, Ivan1, AutorBreen, Gerome1, AutorBrilliant, Murray H.1, AutorBroer, Linda1, AutorBrumat, Marco1, AutorBurt, Amber A.1, AutorButterworth, Adam S.1, AutorCampbell, Peter T.1, AutorCappellani, Stefania1, AutorCarey, David J.1, AutorCatamo, Eulalia1, AutorCaulfield, Mark J.1, AutorChambers, John C.1, AutorChasman, Daniel I.1, AutorChen, Yii-Der I.1, AutorChowdhury, Rajiv1, AutorChristensen, Cramer1, AutorChu, Audrey Y.1, AutorCocca, Massimiliano1, AutorCollins, Francis S.1, AutorCook, James P.1, AutorCorley, Janie1, AutorGalbany, Jordi Corominas1, AutorCox, Amanda J.1, AutorCrosslin, David S.1, AutorCuellar-Partida, Gabriel1, AutorD’Eustacchio, Angela1, AutorDanesh, John1, AutorDavies, Gail1, AutorBakker, Paul I. 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Affiliations:
1External Organizations, ou_persistent22              
2Max Planck Institute of Immunobiology and Epigenetics, Max Planck Society, 79108 Freiburg, DE, ou_2243640              

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 Zusammenfassung: Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

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Sprache(n): eng - English
 Datum: 2018-01
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: Expertenbegutachtung
 Identifikatoren: DOI: org/10-1038/s41588-017-0011-x
 Art des Abschluß: -

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Titel: Nature Genetics
  Andere : Nature Genet.
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: New York, NY : Nature America, Inc.
Seiten: - Band / Heft: 50 Artikelnummer: - Start- / Endseite: 26 - 41 Identifikator: ISSN: 1061-4036
CoNE: https://pure.mpg.de/cone/journals/resource/954925598609