A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Fogh, Isabella; Ratti, Antonia; Gellera, Cinzia; Lin, Kuang; Tiloca, Cinzia; Moskvina, Valent ...; visa fler...; Corrado, Lucia; Soraru, Gianni; Cereda, Cristina; Corti, Stefania; Gentilini, David ...; Calini, Daniela; Castellotti, Bar ...; Mazzini, Letizia; Querin, Giorgia; Gagliardi, Stell ...; Del Bo, Roberto; Conforti, France ...; Siciliano, Gabri ...; Inghilleri, Maur ...; Sacca, Francesco; Bongioanni, Paol ...; Penco, Silvana; Corbo, Massimo; Sorbi, Sandro; Filosto, Massimi ...; Ferlini, Alessan ...; Di Blasio, Anna ...; Signorini, Stefa ...; Shatunov, Alekse ...; Jones, Ashley; Shaw, Pamela J.; Morrison, Karen ...; Farmer, Anne E.; Van Damme, Phili ...; Robberecht, Wim; Chi, Adriano; Traynor, Bryan J ...; Sendtner, Michae ...; Melki, Judith; Meininger, Vince ...; Hardiman, Orla; Andersen, Peter ...; Leigh, Nigel P.; Glass, Jonathan ...; Overste, Daniel; Diekstra, Frank ...; Veldink, Jan H.; van Es, Michael ...; Shaw, Christophe ...; Weale, Michael E ...; Lewis, Cathryn M ...; Williams, Julie; Brown, Robert H.; Landers, John E.; Ticozzi, Nicola; Ceroni, Mauro; Pegoraro, Elena; Comi, Giacomo P.; DAlfonso, Sandra; van den Berg, Le ...; Taroni, Franco; Al-Chalabi, Amma ...; Powell, John; Silani, Vincenzo; visa färre...

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