Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.

doi:10.1038/s41588-024-01972-8

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Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.

Nature genetics - 1 Dec 2024

Western Daniel, Timsina Jigyasha, Wang Lihua, Wang Ciyang, Yang Chengran, Phillips Bridget, Wang Yueyao, Liu Menghan, Ali Muhammad, Beric Aleksandra, Gorijala Priyanka, Kohlfeld Pat, Budde John, Levey Allan I, Morris John C, Perrin Richard J, Ruiz Agustin, Marquié Marta, Boada Mercè, de Rojas Itziar, Rutledge Jarod, Oh Hamilton, Wilson Edward N, Le Guen Yann, Reus Lianne M, Tijms Betty, Visser Pieter Jelle, van der Lee Sven J, Pijnenburg Yolande A L, Teunissen Charlotte E, Del Campo Milan Marta, Alvarez Ignacio, Aguilar Miquel, Greicius Michael D, Pastor Pau, Pulford David J, Ibanez Laura, Wyss-Coray Tony, Sung Yun Ju, Cruchaga Carlos

Abstract excerpt

The integration of quantitative trait loci (QTLs) with disease genome-wide association studies (GWASs) has proven successful in prioritizing candidate genes at disease-associated loci. QTL mapping has been focused on multi-tissue expression QTLs or plasma protein QTLs (pQTLs). We generated a cerebrospinal fluid (CSF) pQTL atlas by measuring 6,361 proteins in 3,506 samples. We identified 3,885 associations for...

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PMID: 39528825
DOI: 10.1038/s41588-024-01972-8

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