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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连接大脑中淀粉样蛋白负荷的基因组和蛋白质组特征

背景阿尔茨海默病（AD）具有复杂疾病的高遗传性特征，但许多遗传风险因素仍然未知。我们将全基因组关联研究（GWAS）与在脑脊液（CSF）和正电子发射断层扫描（PET）中测量到的淀粉样蛋白内型相结合，作为淀粉样蛋白病理学的替代物，这可能有助于了解该疾病的潜在生物学特性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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medRxiv - Genetic and Genomic Medicine

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