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Genome-Wide Association Study of Amyotrophic Lateral Sclerosis in Finland

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https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000344.v1.p1
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The genetic etiology of amyotrophic lateral sclerosis (ALS) is not well understood. Finland has one of the highest incidence of ALS in the world, making it an ideal population for study. To identify genetic risk factors for this fatal neurodegenerative disease, we undertook a genome-wide association study of 405 Finnish patients diagnosed with ALS and 497 Finnish controls. Two loci that exceeded the Bonferroni threshold for genome-wide significance were identified. One was located on chromosome 21q22, corresponding to the known autosomal recessive D90A allele of the SOD1 gene. The other was detected on the short arm of chromosome 9, which had been previously identified in linkage studies of families with ALS. Together, these two loci account for most of the increased incidence of ALS observed in this population.]]> Inclusion/exclusion criteria for cases All DNA samples were obtained from patients who: had been diagnosed with ALS according to the El Escorial diagnostic criteria published by the World Federation of Neurology; were White and non-Hispanics (by self-report); were Finnish (by self-report); had signed informed consent. ]]> The current data release is in conjunction with our Lancet Neurology paper (Laaksovirta et al., 2010). This release of data includes 896 samples for which participants provided consent to make their data publicly available. Six samples were removed for quality control reasons.]]>
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2011-06-23
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