Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

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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

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2009-09-06
Springer Science and Business Media LLC,2009
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LIBRIS-ID:oai:DiVA.org:umu-34690
https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-34690URI
https://doi.org/10.1038/ng.442DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:119431858URI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

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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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MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Neurologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Neurology hsv//eng

Added entries (persons, corporate bodies, meetings, titles ...)

Veldink, Jan H (author)
Saris, Christiaan G J (author)
Blauw, Hylke M (author)
van Vught, Paul W J (author)
Birve, AnnaUmeå universitet,Neurologi(Swepub:umu)anbi0001 (author)
Lemmens, Robin (author)
Schelhaas, Helenius J (author)
Groen, Ewout J N (author)
Huisman, Mark H B (author)
van der Kooi, Anneke J (author)
de Visser, Marianne (author)
Dahlberg, CarolineKarolinska Institutet (author)
Estrada, Karol (author)
Rivadeneira, Fernando (author)
Hofman, Albert (author)
Zwarts, Machiel J (author)
van Doormaal, Perry T C (author)
Rujescu, Dan (author)
Strengman, Eric (author)
Giegling, Ina (author)
Muglia, Pierandrea (author)
Tomik, Barbara (author)
Slowik, Agnieszka (author)
Uitterlinden, Andre G (author)
Hendrich, Corinna (author)
Waibel, Stefan (author)
Meyer, Thomas (author)
Ludolph, Albert C (author)
Glass, Jonathan D (author)
Purcell, Shaun (author)
Cichon, Sven (author)
Nöthen, Markus M (author)
Wichmann, H-Erich (author)
Schreiber, Stefan (author)
Vermeulen, Sita H H M (author)
Kiemeney, Lambertus A (author)
Wokke, John H J (author)
Cronin, Simon (author)
McLaughlin, Russell L (author)
Hardiman, Orla (author)
Fumoto, Katsumi (author)
Pasterkamp, R Jeroen (author)
Meininger, Vincent (author)
Melki, Judith (author)
Leigh, P Nigel (author)
Shaw, Christopher E (author)
Landers, John E (author)
Al-Chalabi, Ammar (author)
Brown, Robert H (author)
Robberecht, Wim (author)
Andersen, Peter MUmeå universitet,Neurologi(Swepub:umu)pean0001 (author)
Ophoff, Roel A (author)
van den Berg, Leonard H (author)
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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By the author/editor: van Es, Michael ...; Veldink, Jan H; Saris, Christiaa ...; Blauw, Hylke M; van Vught, Paul ...; Birve, Anna; show more...; Lemmens, Robin; Schelhaas, Helen ...; Groen, Ewout J N; Huisman, Mark H ...; van der Kooi, An ...; de Visser, Maria ...; Dahlberg, Caroli ...; Estrada, Karol; Rivadeneira, Fer ...; Hofman, Albert; Zwarts, Machiel ...; van Doormaal, Pe ...; Rujescu, Dan; Strengman, Eric; Giegling, Ina; Muglia, Pierandr ...; Tomik, Barbara; Slowik, Agnieszk ...; Uitterlinden, An ...; Hendrich, Corinn ...; Waibel, Stefan; Meyer, Thomas; Ludolph, Albert ...; Glass, Jonathan ...; Purcell, Shaun; Cichon, Sven; Nöthen, Markus M; Wichmann, H-Eric ...; Schreiber, Stefa ...; Vermeulen, Sita ...; Kiemeney, Lamber ...; Wokke, John H J; Cronin, Simon; McLaughlin, Russ ...; Hardiman, Orla; Fumoto, Katsumi; Pasterkamp, R Je ...; Meininger, Vince ...; Melki, Judith; Leigh, P Nigel; Shaw, Christophe ...; Landers, John E; Al-Chalabi, Amma ...; Brown, Robert H; Robberecht, Wim; Andersen, Peter ...; Ophoff, Roel A; van den Berg, Le ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Neurology

Articles in the publication: Nature genetics

By the university: Umeå University; Karolinska Institutet

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