Article

Cumulative genetic risk and<i>C9orf72</i>repeat status independently associate with ALS status in two case-control studies

2022-10-31

Abstract excerpt

<h4>Background</h4> Most amyotrophic lateral sclerosis (ALS) patients lack a monogenic mutation. This study evaluates ALS cumulative genetic risk in an independent Michigan and Spanish replication cohort using polygenic scores. <h4>Methods</h4> ALS (n=219) and healthy control (n=223) participant samples from University of Michigan were genotyped and assayed for the C9orf72 hexanucleotide expansion. Polygenic score...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1f1cd3f7-3a12-5ee3-ad34-0fcf000bc5b1
DOI: 10.1101/2022.10.27.22281377

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Cumulative genetic risk and<i>C9orf72</i>repeat status independently associate with ALS status in two case-control studiesDOI 10.1101/2022.10.27.22281377Read

Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control StudiesSemantic proximity Read

Wild-type <i>C9orf72</i> expression is a genetic modifier of C9-ALS survivalSemantic proximity Read

Rare-variant and polygenic analyses of amyotrophic lateral sclerosis in the French-Canadian genome.Semantic proximity Read

Improving prediction models of amyotrophic lateral sclerosis (ALS) using polygenic, pre-existing conditions, and survey-based risk scores in the UK BiobankSemantic proximity Read

Rare and common variant analyses of amyotrophic lateral sclerosis in the French-Canadian genomeSemantic proximity Read

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS CohortSemantic proximity Read

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell typesSemantic proximity Read

The additive effect of genetic modifiers on ALS prognosis: a population-based studySemantic proximity Read

Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens.Semantic proximity Read

Modelling population genetic screening in rare neurodegenerative diseasesSemantic proximity Read

Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis.Semantic proximity Read

Penetrance of Parkinson’s disease in <i>LRRK2</i> p.G2019S carriers is modified by a polygenic risk scoreSemantic proximity Read