{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Western D"],"funding":["NIA NIH HHS","U.S. Department of Health & Human Services | National Institutes of Health (NIH)","Alzheimer's Association","Alzheimer's Association","U.S. Department of Health & Human Services | National Institutes of Health"],"pagination":["2672-2684"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11831731"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["56(12)"],"pubmed_abstract":["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 1,883 proteins, including 2,885 new pQTLs, demonstrating unique genetic regulation in CSF. We identified CSF-enriched pleiotropic regions on chromosome (chr)3q28 near OSTN and chr19q13.32 near APOE that were enriched for neuron specificity and neurological development. We integrated our associations with Alzheimer's disease (AD) through proteome-wide association study (PWAS), colocali"],"journal":["Nature genetics"],"pubmed_title":["Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease."],"pmcid":["PMC11831731"],"funding_grant_id":["U01AG058922","ZEN-22-848604","RF1AG058501","R01AG044546","RF1 AG071706","RF1 AG074007","RF1AG053303","P30 AG066515","U19 AG032438","R01 AG078964","RF1 AG058501","R01 AG074007","RF1 AG053303","R01 AG058501","R01 AG044546","P30 AG066444","P01AG003991","U01 AG058922","P01 AG026276","U01 AG024904","R01 AG064614","R00 AG062723","P01 AG003991"],"pubmed_authors":["Rutledge J","Pijnenburg YAL","Oh H","Liu M","Wang C","Beric A","Marquie M","Del Campo Milan M","Budde J","Aguilar M","Wang L","Wyss-Coray T","Pulford DJ","Phillips B","Ibanez L","Wang Y","Perrin RJ","Alzheimer’s Disease Neuroimaging Initiative (ADNI)","Sung YJ","Le Guen Y","van der Lee SJ","Alvarez I","Timsina J","Dominantly Inherited Alzheimer Network (DIAN)","Levey AI","de Rojas I","Pastor P","Western D","Yang C","Ali M","Reus LM","Morris JC","Cruchaga C","Gorijala P","Kohlfeld P","Boada M","Ruiz A","Wilson EN","Tijms B","Visser PJ","Greicius MD","Teunissen CE"],"additional_accession":[]},"is_claimable":false,"name":"Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.","description":"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 1,883 proteins, including 2,885 new pQTLs, demonstrating unique genetic regulation in CSF. We identified CSF-enriched pleiotropic regions on chromosome (chr)3q28 near OSTN and chr19q13.32 near APOE that were enriched for neuron specificity and neurological development. We integrated our associations with Alzheimer's disease (AD) through proteome-wide association study (PWAS), colocali","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Dec","modification":"2026-06-10T05:00:52.054Z","creation":"2026-06-10T03:07:03.312Z"},"accession":"S-EPMC11831731","cross_references":{"pubmed":["39528825"],"doi":["10.1038/s41588-024-01972-8"]}}