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Genome-wide associa...
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van Es, Michael A
(author)
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
- Article/chapterEnglish2009
Publisher, publication year, extent ...
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2009-09-06
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Springer Science and Business Media LLC,2009
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-34690
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-34690URI
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https://doi.org/10.1038/ng.442DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:119431858URI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
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Veldink, Jan H
(author)
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Saris, Christiaan G J
(author)
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Blauw, Hylke M
(author)
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van Vught, Paul W J
(author)
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Birve, AnnaUmeå universitet,Neurologi(Swepub:umu)anbi0001
(author)
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Lemmens, Robin
(author)
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Schelhaas, Helenius J
(author)
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Groen, Ewout J N
(author)
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Huisman, Mark H B
(author)
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van der Kooi, Anneke J
(author)
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de Visser, Marianne
(author)
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Dahlberg, CarolineKarolinska Institutet
(author)
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Estrada, Karol
(author)
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Rivadeneira, Fernando
(author)
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Hofman, Albert
(author)
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Zwarts, Machiel J
(author)
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van Doormaal, Perry T C
(author)
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Rujescu, Dan
(author)
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Strengman, Eric
(author)
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Giegling, Ina
(author)
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Muglia, Pierandrea
(author)
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Tomik, Barbara
(author)
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Slowik, Agnieszka
(author)
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Uitterlinden, Andre G
(author)
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Hendrich, Corinna
(author)
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Waibel, Stefan
(author)
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Meyer, Thomas
(author)
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Ludolph, Albert C
(author)
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Glass, Jonathan D
(author)
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Purcell, Shaun
(author)
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Cichon, Sven
(author)
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Nöthen, Markus M
(author)
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Wichmann, H-Erich
(author)
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Schreiber, Stefan
(author)
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Vermeulen, Sita H H M
(author)
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Kiemeney, Lambertus A
(author)
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Wokke, John H J
(author)
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Cronin, Simon
(author)
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McLaughlin, Russell L
(author)
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Hardiman, Orla
(author)
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Fumoto, Katsumi
(author)
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Pasterkamp, R Jeroen
(author)
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Meininger, Vincent
(author)
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Melki, Judith
(author)
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Leigh, P Nigel
(author)
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Shaw, Christopher E
(author)
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Landers, John E
(author)
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Al-Chalabi, Ammar
(author)
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Brown, Robert H
(author)
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Robberecht, Wim
(author)
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Andersen, Peter MUmeå universitet,Neurologi(Swepub:umu)pean0001
(author)
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Ophoff, Roel A
(author)
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van den Berg, Leonard H
(author)
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Umeå universitetNeurologi
(creator_code:org_t)
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In:Nature genetics: Springer Science and Business Media LLC41:10, s. 1083-10871546-17181061-4036
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van Es, Michael ...
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Veldink, Jan H
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Saris, Christiaa ...
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Blauw, Hylke M
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van Vught, Paul ...
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Birve, Anna
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Lemmens, Robin
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Schelhaas, Helen ...
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Groen, Ewout J N
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Huisman, Mark H ...
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van der Kooi, An ...
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de Visser, Maria ...
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Dahlberg, Caroli ...
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Estrada, Karol
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Rivadeneira, Fer ...
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Hofman, Albert
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Zwarts, Machiel ...
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van Doormaal, Pe ...
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Rujescu, Dan
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Strengman, Eric
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Giegling, Ina
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Muglia, Pierandr ...
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Tomik, Barbara
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Slowik, Agnieszk ...
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Uitterlinden, An ...
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Hendrich, Corinn ...
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Waibel, Stefan
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Meyer, Thomas
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Ludolph, Albert ...
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Glass, Jonathan ...
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Purcell, Shaun
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Cichon, Sven
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Nöthen, Markus M
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Wichmann, H-Eric ...
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Schreiber, Stefa ...
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Vermeulen, Sita ...
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Kiemeney, Lamber ...
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Wokke, John H J
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Cronin, Simon
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McLaughlin, Russ ...
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Hardiman, Orla
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Fumoto, Katsumi
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Pasterkamp, R Je ...
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Meininger, Vince ...
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Melki, Judith
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Leigh, P Nigel
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Shaw, Christophe ...
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Landers, John E
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Al-Chalabi, Amma ...
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Brown, Robert H
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Robberecht, Wim
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Andersen, Peter ...
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Ophoff, Roel A
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van den Berg, Le ...
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- MEDICAL AND HEALTH SCIENCES
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and Neurology
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Nature genetics
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Umeå University
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Karolinska Institutet