Cumulative Genetic Score and C9orf72 Repeat Status Independently Contribute to Amyotrophic Lateral Sclerosis Risk in 2 Case-Control Studies.
John DouKelly BakulskiKai GuoJunguk HurLili ZhaoSara Saez-AtienzarAli StarkRuth ChiaAlberto García-RedondoRicardo Rojas-GarcíaJuan Francisco Vázquez CostaRuben Fernandez SantiagoSara Bandres-CigaPilar Gómez-GarreMaria Teresa PeriñánPablo MirJordi Pérez TurFernando CardonaMenéndez-González ManuelJavier RianchoDaniel Borrego-HernándezLucia Galán-DávilaJon Infante CeberioPau PastorCarmen ParadasOriol Dols-IcardoBryan J TraynorEva L FeldmanStephen A Goutmannull nullPublished in: Neurology. Genetics (2023)
ALS polygenic scores can account for cumulative genetic risk in populations and reflect disease-relevant pathways. If further validated, this polygenic score will inform future ALS risk models.