Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families

Autor:	Mol, Merel O., van der Lee, S.J., Hulsman, M., Pijnenburg, Yolande A.L., Scheltens, Phillip, Seelaar, Harro, van Swieten, John C., Kaat, Laura Donker, Holstege, H., van Rooij, Jeroen G.J.
Přispěvatelé:	Neurology, Clinical Genetics
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	Early-onset Alzheimer disease Genetic testing Familial Alzheimer disease Polygenic risk score Polygenic inheritance Whole exome sequencing Alzheimer’s disease ApoE Genetic counseling
Zdroj:	Alzheimer's Research and Therapy, 14(1):77. BioMed Central Ltd. Alzheimer's Research and Therapy, 14(1)
ISSN:	1758-9193
Popis:	Background: Many families with clinical early-onset Alzheimer’s disease (EOAD) remain genetically unexplained. A combination of genetic factors is not standardly investigated. In addition to monogenic causes, we evaluated the possible polygenic architecture in a large series of families, to assess if genetic testing of familial EOAD could be expanded. Methods: Thirty-six pedigrees (77 patients) were ascertained from a larger cohort of patients, with relationships determined by genetic data (exome sequencing data and/or SNP arrays). All families included at least one AD patient with symptom onset
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::56388094d13c5e6eb82770527c0a7f9c https://pure.eur.nl/en/publications/32ec8e4c-9ca5-43f1-8083-d11d0ea9c98e Zobrazit plný text záznamu Full text from SpringerLink