0000000000970941

AUTHOR

Dietrich A. Stephan

showing 2 related works from this author

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

2009

The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility to motor neuron degeneration. To identify genetic variants altering risk of ALS, we undertook a two-stage genome-wide association study (GWAS): we followed our initial GWAS of 545 066 SNPs in 553 individuals with ALS and 2338 controls by testing the 7600 most associated SNPs from the first stage in three independent cohorts consisting of 2160 cases and 3008 controls. None of the SNPs selected for replication exceeded the Bonferroni threshold for significance. The two most significantly associated SNPs, rs2708909 and rs2708851 …

amyotrophic lateral sclerosisLinkage disequilibriumPopulationamyotrophic lateral sclerosis; genetics; GWASingle-nucleotide polymorphismGenome-wide association studyBiologyGWAPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineGenotypeGeneticsmedicineHumansPolymorphismAmyotrophic lateral sclerosiseducationMolecular BiologyGenetics (clinical)030304 developmental biologyGenetics0303 health scienceseducation.field_of_studyGenomeSLA wide genome screeningGenome HumanAssociation Studies ArticlesCase-control studySingle NucleotideGeneral MedicineOdds ratiomedicine.diseaseSettore MED/26 - NEUROLOGIAAmyotrophic Lateral Sclerosis; genetics Case-Control Studies Genome; Human Genome-Wide Association Study Humans Polymorphism; Single NucleotideCase-Control Studies030217 neurology & neurosurgeryHumanGenome-Wide Association StudyHuman Molecular Genetics
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FUS mutations in sporadic amyotrophic lateral sclerosis

2011

Mutations in the FUS gene have recently been described as a cause of familial amyotrophic lateral sclerosis (ALS), but their role in the pathogenesis of sporadic ALS is unclear. We undertook mutational screening of all coding exons of FUS in 228 sporadic ALS cases, and, as previous reports suggest that exon 15 represents a mutational hotspot, we sequenced this exon in an additional 1295 sporadic cases. Six variants in six different cases were found, indicating that FUS mutations can underlie apparently sporadic ALS, but account for less than 1% of this form of disease. © 2010 .

AdultMaleAgingAmyotrophic lateral sclerosis; FUS; Italy; Sporadic disease; United States of America;AdolescentGenotypesporadic patientsDNA Mutational AnalysisALS; FUS mutations; sporadic patientsBiologymedicine.disease_causeArticlePathogenesisExonYoung AdultDNA Mutational AnalysisGenotypemedicineHumansFUS mutationsAmyotrophic lateral sclerosisChildGeneAgedGeneticsAged 80 and overMutationGeneral NeuroscienceAmyotrophic Lateral Sclerosisamyotrophic lateral sclerosis FUS geneticsExonsMiddle Agedmedicine.diseaseUnited StatesSettore MED/26 - NEUROLOGIAItalyMutationRNA-Binding Protein FUSFemaleNeurology (clinical)Geriatrics and GerontologyALSDevelopmental BiologyRNA-Binding Protein FUS
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