Sökning: onr:"swepub:oai:DiVA.org:umu-87867" > A genome-wide assoc...
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000 | 05582naa a2201069 4500 | |
001 | oai:DiVA.org:umu-87867 | |
003 | SwePub | |
008 | 140414s2014 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-878672 URI |
024 | 7 | a https://doi.org/10.1093/hmg/ddt5872 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Fogh, Isabella4 aut |
245 | 1 0 | a A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis |
264 | c 2013-11-20 | |
264 | 1 | a Oxford :b Oxford University Press,c 2014 |
338 | a print2 rdacarrier | |
520 | a Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease. However, genome-wide association studies (GWAS) of the more common (90) sporadic form have been less successful with the exception of the replicated locus at 9p21.2. To identify new loci associated with disease susceptibility, we have established the largest association study in ALS to date and undertaken a GWAS meta-analytical study combining 3959 newly genotyped Italian individuals (1982 cases and 1977 controls) collected by SLAGEN (Italian Consortium for the Genetics of ALS) together with samples from Netherlands, USA, UK, Sweden, Belgium, France, Ireland and Italy collected by ALSGEN (the International Consortium on Amyotrophic Lateral Sclerosis Genetics). We analysed a total of 13 225 individuals, 6100 cases and 7125 controls for almost 7 million single-nucleotide polymorphisms (SNPs). We identified a novel locus with genome-wide significance at 17q11.2 (rs34517613 with P 1.11 10(8); OR 0.82) that was validated when combined with genotype data from a replication cohort (P 8.62 10(9); OR 0.833) of 4656 individuals. Furthermore, we confirmed the previously reported association at 9p21.2 (rs3849943 with P 7.69 10(9); OR 1.16). Finally, we estimated the contribution of common variation to heritability of sporadic ALS as 12 using a linear mixed model accounting for all SNPs. Our results provide an insight into the genetic structure of sporadic ALS, confirming that common variation contributes to risk and that sufficiently powered studies can identify novel susceptibility loci. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinsk bioteknologix Medicinsk bioteknologi0 (SwePub)304012 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Medical Biotechnologyx Medical Biotechnology0 (SwePub)304012 hsv//eng |
700 | 1 | a Ratti, Antonia4 aut |
700 | 1 | a Gellera, Cinzia4 aut |
700 | 1 | a Lin, Kuang4 aut |
700 | 1 | a Tiloca, Cinzia4 aut |
700 | 1 | a Moskvina, Valentina4 aut |
700 | 1 | a Corrado, Lucia4 aut |
700 | 1 | a Soraru, Gianni4 aut |
700 | 1 | a Cereda, Cristina4 aut |
700 | 1 | a Corti, Stefania4 aut |
700 | 1 | a Gentilini, Davide4 aut |
700 | 1 | a Calini, Daniela4 aut |
700 | 1 | a Castellotti, Barbara4 aut |
700 | 1 | a Mazzini, Letizia4 aut |
700 | 1 | a Querin, Giorgia4 aut |
700 | 1 | a Gagliardi, Stella4 aut |
700 | 1 | a Del Bo, Roberto4 aut |
700 | 1 | a Conforti, Francesca L.4 aut |
700 | 1 | a Siciliano, Gabriele4 aut |
700 | 1 | a Inghilleri, Maurizio4 aut |
700 | 1 | a Sacca, Francesco4 aut |
700 | 1 | a Bongioanni, Paolo4 aut |
700 | 1 | a Penco, Silvana4 aut |
700 | 1 | a Corbo, Massimo4 aut |
700 | 1 | a Sorbi, Sandro4 aut |
700 | 1 | a Filosto, Massimiliano4 aut |
700 | 1 | a Ferlini, Alessandra4 aut |
700 | 1 | a Di Blasio, Anna M.4 aut |
700 | 1 | a Signorini, Stefano4 aut |
700 | 1 | a Shatunov, Aleksey4 aut |
700 | 1 | a Jones, Ashley4 aut |
700 | 1 | a Shaw, Pamela J.4 aut |
700 | 1 | a Morrison, Karen E.4 aut |
700 | 1 | a Farmer, Anne E.4 aut |
700 | 1 | a Van Damme, Philip4 aut |
700 | 1 | a Robberecht, Wim4 aut |
700 | 1 | a Chi, Adriano4 aut |
700 | 1 | a Traynor, Bryan J.4 aut |
700 | 1 | a Sendtner, Michael4 aut |
700 | 1 | a Melki, Judith4 aut |
700 | 1 | a Meininger, Vincent4 aut |
700 | 1 | a Hardiman, Orla4 aut |
700 | 1 | a Andersen, Peter M.u Umeå universitet,Klinisk neurovetenskap4 aut0 (Swepub:umu)pean0001 |
700 | 1 | a Leigh, Nigel P.4 aut |
700 | 1 | a Glass, Jonathan D.4 aut |
700 | 1 | a Overste, Daniel4 aut |
700 | 1 | a Diekstra, Frank P.4 aut |
700 | 1 | a Veldink, Jan H.4 aut |
700 | 1 | a van Es, Michael A.4 aut |
700 | 1 | a Shaw, Christopher E.4 aut |
700 | 1 | a Weale, Michael E.4 aut |
700 | 1 | a Lewis, Cathryn M.4 aut |
700 | 1 | a Williams, Julie4 aut |
700 | 1 | a Brown, Robert H.4 aut |
700 | 1 | a Landers, John E.4 aut |
700 | 1 | a Ticozzi, Nicola4 aut |
700 | 1 | a Ceroni, Mauro4 aut |
700 | 1 | a Pegoraro, Elena4 aut |
700 | 1 | a Comi, Giacomo P.4 aut |
700 | 1 | a DAlfonso, Sandra4 aut |
700 | 1 | a van den Berg, Leonard H.4 aut |
700 | 1 | a Taroni, Franco4 aut |
700 | 1 | a Al-Chalabi, Ammar4 aut |
700 | 1 | a Powell, John4 aut |
700 | 1 | a Silani, Vincenzo4 aut |
710 | 2 | a Umeå universitetb Klinisk neurovetenskap4 org |
773 | 0 | t Human Molecular Geneticsd Oxford : Oxford University Pressg 23:8, s. 2220-2231q 23:8<2220-2231x 0964-6906x 1460-2083 |
856 | 4 | u https://academic.oup.com/hmg/article-pdf/23/8/2220/14142792/ddt587.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-87867 |
856 | 4 8 | u https://doi.org/10.1093/hmg/ddt587 |
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