Article
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.
Molecular psychiatry - 1 Mar 2020
Hartl Daniela, May Patrick, Gu Wei, Mayhaus Manuel, Pichler Sabrina, Spaniol Christian, Glaab Enrico, Bobbili Dheeraj Reddy, Antony Paul, Koegelsberger Sandra, Kurz Alexander, Grimmer Timo, Morgan Kevin, Vardarajan Badri N, Reitz Christiane, Hardy John, Bras Jose, Guerreiro Rita, Balling Rudi, Schneider Jochen G, Riemenschneider Matthias
Abstract excerpt
Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS). However, there is still a large proportion of heritability that might be explained by rare but functionally important variants. One of the so far identified genes with rare AD causing variants is ADAM10. Using whole-genome sequencing we now identified a single rare nonsynonymous...
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