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Cumulative Genetic Score and

John Dou1, Kelly Bakulski1, Kai Guo1

  • 1From the Department of Epidemiology (J.D., K.B.), School of Public Health, Department of Neurology (K.G., E.L.F., S.A.G.), NeuroNetwork for Emerging Therapies (K.G., E.L.F., S.A.G.), University of Michigan, Ann Arbor; Department of Biomedical Sciences (J.H.), University of North Dakota, Grand Forks; Department of Biostatistics (L.Z.), School of Public Health, University of Michigan, Ann Arbor; Neuromuscular Diseases Research Section (S.S.-A., A.S., R.C., B.J.T.), Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD; ALS Unit (A.G.-R., D.B.-H.), Instituto de Investigación Sanitaria "i + 12" del Hospital Universitario 12 de Octubre de Madrid, SERMAS, CIBERER (A.G.-R., R.R.-G., J.F.V.C., D.B.-H.), Center for Networked Biomedical Research into Rare Diseases, Madrid; Neuromuscular Disorders Unit (R.R.-G.), Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu I Sant Pau, Universitat Autonoma de Barcelona; Neuromuscular Unit (J.F.V.C.), Hospital Universitario y Politécnico la Fe, IIS La Fe; Department of Medicine (J.F.V.C.), Universitat de València; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED) (R.F.S., P.G.-G., M.T.P., P.M., J.P.-T., F.C., O.D.-I.), Madrid; Lab of Parkinson's disease and Other Neurodegenerative Movement Disorders (R.F.S.), IDIBAPS-Institut d'Investigacions Biomèdiques, Barcelona; Unitat de Parkinson i Trastorns del Moviment, Servicio de Neurologia (R.F.S.), Hospital Clínic de Barcelona and Institut de Neurociencies de la Universitat de Barcelona (Maria de Maetzu Center), Catalonia, Spain; Center for Alzheimer's and Related Dementias (S.B.-C.), National Institute on Aging, Bethesda, MD; Unidad de Trastornos del Movimiento (P.G.-G., M.T.P., P.M.), Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC; Departamento de Medicina (P.M.), Universidad de Sevilla; Neurology and Molecular Genetics Mixed Investigation Unit (J.P.-T., F.C.), Instituto de Investigación Sanitaria La Fe, Molecular Genetics Unit (J.P.-T., F.C.), Institut de Biomedicina de València-CSIC; Department of Medicine (M.M.-G.), Universidad de Oviedo; Department of Neurology (M.M.-G.), Hospital Universitario Central de Asturias; Instituto de Investigación Sanitaria del Principado de Asturias (M.M.-G.), Oviedo, Spain; Service of Neurology (J.R.), Hospital Sierrallana, IDIVAL University of Cantabria, Torrelavega; Instituto de Investigación Marqués de Valdecilla (J.R., J.I.C.), Santander; Department of Neurology (L.G.-D.), ALS Unit, Hospital Clínico Universitario "San Carlos," Madrid; Unit of Neurodegenerative Diseases (P.P.), Department of Neurology, University Hospital Germans Trias I Pujol; Neurosciences (P.P.), The Germans Trias i Pujol Research Institute (IGTP) Badalona; Department of Neurology (C.P.), Hospital Universitario Virgen del Rocio, Sevilla; and Memory Unit (O.D.-I.), Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu I Sant Pau, Universitat Autonoma de Barcelona, Spain.

Neurology. Genetics
|June 9, 2023
PubMed
Summary
This summary is machine-generated.

Polygenic scores identify cumulative genetic risk for amyotrophic lateral sclerosis (ALS) in populations lacking monogenic mutations. This tool may improve future ALS risk prediction models.

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Area of Science:

  • Genetics
  • Neurology
  • Epidemiology

Background:

  • Most amyotrophic lateral sclerosis (ALS) cases lack a clear monogenic cause.
  • Genetic factors beyond single-gene mutations contribute to ALS risk.

Purpose of the Study:

  • To evaluate the utility of polygenic scores in assessing cumulative genetic risk for ALS.
  • To validate these scores in independent patient cohorts.

Main Methods:

  • Genotyping and analysis of chromosome 9 open reading frame 72 (C9orf72) expansion in a Michigan cohort.
  • Generation of polygenic scores using genome-wide association study data, excluding the C9orf72 region.
  • Logistic regression and receiver operating characteristic analyses in Michigan and Spanish cohorts for validation.

Main Results:

  • A polygenic score using 275 single-nucleotide variations (SNVs) significantly associated with ALS odds (OR=1.28) in the Michigan cohort.
  • The top 20% of polygenic scores accounted for 4.1% of ALS cases, highlighting cumulative genetic risk.
  • Replication in a Spanish cohort confirmed the association (OR=1.13) using a harmonized 132-SNV polygenic score.

Conclusions:

  • Polygenic scores effectively capture cumulative genetic risk for ALS in diverse populations.
  • These scores reflect biologically relevant pathways implicated in ALS pathogenesis.
  • Validated polygenic scores show promise for future ALS risk stratification and modeling.