Connecting genomic and proteomic signatures of amyloid burden in the brain

medRxiv - Genetic and Genomic Medicine Pub Date : 2024-09-06 DOI:10.1101/2024.09.06.24313124

Raquel Puerta, Itziar de Rojas, Pablo García-González, Clàudia Olivé, Oscar Sotolongo-Grau, Ainhoa García-Sánchez, Fernando García-Gutiérrez, Laura Montrreal, Juan Pablo Tartari, Ángela Sanabria, Vanesa Pytel, Carmen Lage, Inés Quintela, Nuria Aguilera, Eloy Rodriguez-Rodriguez, Emilio Alarcón-Martín, Adelina Orellana, Pau Pastor, Jordi Pérez-Tur, Gerard Piñol-Ripoll, Adolfo López de Munian, Jose María García-Alberca, Jose Luís Royo, María Jesús Bullido, Victoria Álvarez, Luis Miguel Real, Arturo Corbatón Anchuelo, Dulcenombre Gómez-Garre, María Teresa Martínez Larrad, Emilio Franco-Macías, Pablo Mir, Miguel Medina, Raquel Sánchez-Valle, Oriol Dols- Icardo, María Eugenia Sáez, Ángel Carracedo, Lluís Tárraga, Montse Alegret, Sergi Valero, Marta Marquié, Mercè Boada, Pascual Sánchez Juan, Jose Enrique Cavazos, Alfredo Cabrera, Amanda Cano, Agustín Ruiz, Alzheimer’s Disease Neuroimaging Initiative

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Abstract

Background Alzheimer’s disease (AD) has a high heritable component characteristic of complex diseases, yet many of the genetic risk factors remain unknown. We combined genome-wide association studies (GWAS) on amyloid endophenotypes measured in cerebrospinal fluid (CSF) and positron emission tomography (PET) as surrogates of amyloid pathology, which may be helpful to understand the underlying biology of the disease.

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