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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
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2009 (English)In: Nature genetics, ISSN 1546-1718, Vol. 41, no 10, 1083-1087 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2009. Vol. 41, no 10, 1083-1087 p.
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Neurology
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URN: urn:nbn:se:umu:diva-34690DOI: 10.1038/ng.442PubMedID: 19734901OAI: oai:DiVA.org:umu-34690DiVA: diva2:323810
Available from: 2010-06-11 Created: 2010-06-11 Last updated: 2012-03-19Bibliographically approved

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