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dc.contributor.authorShaw, Pamela J.
dc.contributor.authorCasale, Federico
dc.contributor.authorChio, Adrian
dc.contributor.authorBeghi, Ettore
dc.contributor.authorPupillo, Elisabetta
dc.contributor.authorTortelli, Rosanna
dc.contributor.authorLogroscino, Giancarlo
dc.contributor.authorPowell, John
dc.contributor.authorLudolph, Albert C.
dc.contributor.authorWeishaupt, Jochen H.
dc.contributor.authorRobberecht, Wim
dc.contributor.authorVan Damme, Philip
dc.contributor.authorFranke, Lude
dc.contributor.authorPers, Tune H.
dc.contributor.authorBrown, Robert H.
dc.contributor.authorGlass, Jonathan D.
dc.contributor.authorLanders, John E.
dc.contributor.authorHardiman, Orla
dc.contributor.authorAndersen, Peter M.
dc.contributor.authorCorcia, Philippe
dc.contributor.authorVourc'h, Patrick
dc.contributor.authorSilani, Vincenzo
dc.contributor.authorWray, Naomi R.
dc.contributor.authorVisscher, Peter M.
dc.contributor.authorde Bakker, Paul I. W.
dc.contributor.authorvan Es, Michael A.
dc.contributor.authorPasterkamp, R. Jeroen
dc.contributor.authorLewis, Cathryn M.
dc.contributor.authorBreen, Gerome
dc.contributor.authorAl-Chalabi, Ammar
dc.contributor.authorvan den Berg, Leonard H.
dc.contributor.authorVeldink, Jan H.
dc.contributor.authorParman, Yesim
dc.contributor.authorvan Rheenen, Wouter
dc.contributor.authorShatunov, Aleksey
dc.contributor.authorDekker, Annelot M.
dc.contributor.authorMcLaughlin, Russell L.
dc.contributor.authorDiekstra, Frank P.
dc.contributor.authorPulit, Sara L.
dc.contributor.authorvan der Spek, Rick A. A.
dc.contributor.authorVosa, Urmo
dc.contributor.authorde Jong, Simone
dc.contributor.authorRobinson, Matthew R.
dc.contributor.authorYang, Jian
dc.contributor.authorFogh, Isabella
dc.contributor.authorvan Doormaal, Perry T. C.
dc.contributor.authorTazelaar, Gijs H. P.
dc.contributor.authorKoppers, Max
dc.contributor.authorBlokhuis, Anna M.
dc.contributor.authorSproviero, William
dc.contributor.authorJones, Ashley R.
dc.contributor.authorKenna, Kevin P.
dc.contributor.authorvan Eijk, Kristel R.
dc.contributor.authorHarschnitz, Oliver
dc.contributor.authorSchellevis, Raymond D.
dc.contributor.authorBrands, William J.
dc.contributor.authorMedic, Jelena
dc.contributor.authorMenelaou, Androniki
dc.contributor.authorVajda, Alice
dc.contributor.authorTicozzi, Nicola
dc.contributor.authorLin, Kuang
dc.contributor.authorRogelj, Boris
dc.contributor.authorVrabec, Katarina
dc.contributor.authorRavnik-Glavac, Metka
dc.contributor.authorKoritnik, Blazi
dc.contributor.authorZidar, Janez
dc.contributor.authorLeonardis, Lea
dc.contributor.authorGroselj, Leja Dolenc
dc.contributor.authorMillecamps, Stephanie
dc.contributor.authorSalachas, Francois
dc.contributor.authorMeininger, Vincent
dc.contributor.authorde Carvalho, Mamede
dc.contributor.authorPinto, Susana
dc.contributor.authorMora, Jesus S.
dc.contributor.authorRojas-Garcia, Ricardo
dc.contributor.authorPolak, Meraida
dc.contributor.authorChandran, Siddharthan
dc.contributor.authorColville, Shuna
dc.contributor.authorSwingler, Robert
dc.contributor.authorMorrison, Karen E.
dc.contributor.authorHardy, John
dc.contributor.authorOrrell, Richard W.
dc.contributor.authorPittman, Alan
dc.contributor.authorSidle, Katie
dc.contributor.authorFratta, Pietro
dc.contributor.authorMalaspina, Andrea
dc.contributor.authorTopp, Simon
dc.contributor.authorPetri, Susanne
dc.contributor.authorAbdulla, Susanne
dc.contributor.authorDrepper, Carsten
dc.contributor.authorSendtner, Michael
dc.contributor.authorMeyer, Thomas
dc.contributor.authorOphoff, Roel A.
dc.contributor.authorStaats, Kim A.
dc.contributor.authorWiedau-Pazos, Martina
dc.contributor.authorLomen-Hoerth, Catherine
dc.contributor.authorVan Deerlin, Vivianna M.
dc.contributor.authorTrojanowski, John Q.
dc.contributor.authorElman, Lauren
dc.contributor.authorMcCluskey, Leo
dc.contributor.authorBasak, A. Nazli
dc.contributor.authorTunca, Ceren
dc.contributor.authorHamzeiy, Hamid
dc.contributor.authorMeitinger, Thomas
dc.contributor.authorLichtner, Peter
dc.contributor.authorRadivojkov-Blagojevic, Milena
dc.contributor.authorAndres, Christian R.
dc.contributor.authorRatti, Antonia
dc.contributor.authorMaurel, Cindy
dc.contributor.authorBensimon, Gilbert
dc.contributor.authorLandwehrmeyer, Bernhard
dc.contributor.authorBrice, Alexis
dc.contributor.authorPayan, Christine A. M.
dc.contributor.authorSaker-Delye, Safaa
dc.contributor.authorDuerr, Alexandra
dc.contributor.authorWood, Nicholas W.
dc.contributor.authorTittmann, Lukas
dc.contributor.authorLieb, Wolfgang
dc.contributor.authorFranke, Andre
dc.contributor.authorRietschel, Marcella
dc.contributor.authorCichon, Sven
dc.contributor.authorNoethen, Markus M.
dc.contributor.authorAmouyel, Philippe
dc.contributor.authorTzourio, Christophe
dc.contributor.authorDartigues, Jean-Francois
dc.contributor.authorUitterlinden, Andre G.
dc.contributor.authorRivadeneira, Fernando
dc.contributor.authorEstrada, Karol
dc.contributor.authorHofman, Albert
dc.contributor.authorCurtis, Charles
dc.contributor.authorBlauw, Hylke M.
dc.contributor.authorvan der Kooi, Anneke J.
dc.contributor.authorde Visser, Marianne
dc.contributor.authorGoris, An
dc.contributor.authorWeber, Markus
dc.contributor.authorShaw, Christopher E.
dc.contributor.authorSmith, Bradley N.
dc.contributor.authorPansarasa, Orietta
dc.contributor.authorCereda, Cristina
dc.contributor.authorDel Bo, Roberto
dc.contributor.authorComi, Giacomo P.
dc.contributor.authorD'Alfonso, Sandra
dc.contributor.authorBertolin, Cinzia
dc.contributor.authorSoraru, Gianni
dc.contributor.authorMazzini, Letizia
dc.contributor.authorPensato, Viviana
dc.contributor.authorGellera, Cinzia
dc.contributor.authorTiloca, Cinzia
dc.contributor.authorCalvo, Andrea
dc.contributor.authorMoglia, Cristina
dc.contributor.authorBrunetti, Maura
dc.contributor.authorArcuti, Simona
dc.contributor.authorCapozzo, Rosa
dc.contributor.authorZecca, Chiara
dc.contributor.authorLunetta, Christian
dc.contributor.authorPenco, Silvana
dc.contributor.authorRiva, Nilo
dc.contributor.authorPadovani, Alessandro
dc.contributor.authorFilosto, Massimiliano
dc.contributor.authorMuller, Bernard
dc.contributor.authorStuit, Robbert Jan
dc.contributor.authorBlair, Ian
dc.contributor.authorZhang, Katharine
dc.contributor.authorMcCann, Emily P.
dc.contributor.authorFifita, Jennifer A.
dc.contributor.authorNicholson, Garth A.
dc.contributor.authorRowe, Dominic B.
dc.contributor.authorPamphlett, Roger
dc.contributor.authorKiernan, Matthew C.
dc.contributor.authorGrosskreutz, Julian
dc.contributor.authorWitte, Otto W.
dc.contributor.authorRinger, Thomas
dc.contributor.authorPrell, Tino
dc.contributor.authorStubendorff, Beatrice
dc.contributor.authorKurth, Ingo
dc.contributor.authorHuebner, Christian A.
dc.contributor.authorLeigh, P. Nigel
dc.date.accessioned2021-03-06T12:19:54Z
dc.date.available2021-03-06T12:19:54Z
dc.date.issued2016
dc.identifier.citationvan Rheenen W., Shatunov A., Dekker A. M. , McLaughlin R. L. , Diekstra F. P. , Pulit S. L. , van der Spek R. A. A. , Vosa U., de Jong S., Robinson M. R. , et al., "Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis", NATURE GENETICS, cilt.48, ss.1043-1050, 2016
dc.identifier.issn1061-4036
dc.identifier.othervv_1032021
dc.identifier.otherav_f349ba1b-c023-4d61-96c0-c73e12525ead
dc.identifier.urihttp://hdl.handle.net/20.500.12627/159558
dc.identifier.urihttps://doi.org/10.1038/ng.3622
dc.description.abstractTo elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.
dc.language.isoeng
dc.subjectTıbbi Genetik
dc.subjectTemel Bilimler
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectDahili Tıp Bilimleri
dc.subjectYaşam Bilimleri
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.titleGenome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
dc.typeMakale
dc.relation.journalNATURE GENETICS
dc.contributor.departmentUniversiteit Utrecht (University College Utrecht) , ,
dc.identifier.volume48
dc.identifier.issue9
dc.identifier.startpage1043
dc.identifier.endpage1050
dc.contributor.firstauthorID24637


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