ArticleEMBO molecular medicine2023
The genetic regulation of protein expression in cerebrospinal fluid.
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Article in EMBO molecular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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33citing papers in PubMed
5.8field-weighted citation impact, top 3% of its field
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Who cites it
33 citing papers in PubMed, 52 citations in OpenAlex.
- Review
- Proteogenomics in human populations.Nature reviews. Genetics · 2026Review
- Sex-aware causal inference assessment of the immune system in complex neurodegenerative diseases.Brain : a journal of neurology · 2026Article
- Understanding Neurodegenerative Diseases From the -Omics Perspective: Lessons Learnt.Annals of neurology · 2026Review
- Human CSF proteogenomics links genetic variation to neurodegenerative disease proteins.medRxiv : the preprint server for health sciences · 2026Article
- Mendelian randomization study of GLP-1R effects on ovarian cancer subtypes mediated by metabolic factors.Communications medicine · 2026Article
- CSF proteomic quantitative trait loci mapping reveals genetic insights into Alzheimer's disease.Molecular neurodegeneration advances · 2026Article
- Genetic insights into drug targets for alzheimer's disease: integrative multi-omics analysis.Alzheimer's research & therapy · 2025Article
- CSF proteogenomics implicates novel proteins and humoral immunity in Alzheimer's disease risk.medRxiv : the preprint server for health sciences · 2025Article
- Mendelian randomization identifies proteins involved in neurodegenerative diseases.Brain : a journal of neurology · 2025Article
- Alzheimer's disease as an auto-innate immune pathology with potential cell trans-differentiation and enhanced trained immunity in 3xTg-AD mouse model.Journal of Alzheimer's disease : JAD · 2025Article
- Multi-Ancestry Transcriptome-Wide Association Studies of Cognitive Function, White Matter Hyperintensity, and Alzheimer's Disease.International journal of molecular sciences · 2025Article
- Biomarker identification for Alzheimer's disease through integration of comprehensive Mendelian randomization and proteomics data.Journal of translational medicine · 2025Article
- CSF levels of brain-derived proteins correlate with brain ventricular volume in cognitively healthy 70-year-olds.Clinical proteomics · 2024Article
- Mendelian randomization study of causal link from Cerebrospinal fluid metabolomics to neurodegenerative diseases.Neurogenetics · 2024Article
- Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.Nature genetics · 2024Article
- Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.Nature genetics · 2024Article
- Connecting dementia risk loci to the CSF proteome identifies pathophysiological leads for dementia.Brain : a journal of neurology · 2024Article
- Multiplex cerebrospinal fluid proteomics identifies biomarkers for diagnosis and prediction of Alzheimer's disease.Nature human behaviour · 2024Article
- Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC).Orphanet journal of rare diseases · 2024Review
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 4 countries.
Oskar HanssonClinical Memory Research Unit, Faculty of Medicine, Lund University, Lund, Sweden.ORCID 0000-0001-8467-7286
Atul KumarClinical Memory Research Unit, Faculty of Medicine, Lund University, Lund, Sweden.ORCID 0000-0002-2166-4805
Shorena JanelidzeClinical Memory Research Unit, Faculty of Medicine, Lund University, Lund, Sweden.
Erik StomrudClinical Memory Research Unit, Faculty of Medicine, Lund University, Lund, Sweden.
Philip S InselClinical Memory Research Unit, Faculty of Medicine, Lund University, Lund, Sweden.
Kaj BlennowClinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.ORCID 0000-0002-1890-4193
Henrik ZetterbergClinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, Sweden.
Eric FaumanInternal Medicine Research Unit, Pfizer Worldwide Research, Development and Medical, Cambridge, MA, USA.
Åsa K HedmanPfizer Worldwide Research, Development and Medical, Stockholm, Sweden.
Michael W NagleNeurogenomics, Genetics-Guided Dementia Discovery, Eisai, Inc, Cambridge, MA, USA.ORCID 0000-0002-4677-7582
Christopher D WhelanTranslational Biology, Biogen Research & Development, Biogen Inc, Cambridge, MA, USA.
Denis BairdDepartment of Neurology, Skåne University Hospital, Lund University, Lund, Sweden.
Anders MälarstigPfizer Worldwide Research, Development and Medical, Stockholm, Sweden.
Niklas Mattsson-CarlgrenClinical Memory Research Unit, Faculty of Medicine, Lund University, Lund, Sweden.ORCID 0000-0002-8885-7724
Lund University · SEPfizer (United States) · USSahlgrenska University Hospital · SEBiogen (United States) · USEisai (United States) · USUniversity of California, San Francisco · US
Funding
Vascular Structure and Function in Cognitive AgingP01AG003949 · NIA · YESHIVA UNIVERSITY · PI Charles B Hall · 1985 to 2026
$73.9MSUPPLEMENT TO ALZHEIMERS DISEASE PATIENT REGISTRYU01AG006786 · NIA · MAYO CLINIC ROCHESTER · PI GRAFF-RADFORD, JONATHAN, JACK, CLIFFORD R. · 1986 to 2023
$49.6MSUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI LEURGANS, SUE E. · 1991 to 2020
$49.1MEPIDEMIOLOGY OF NEURAL RESERVE AND NEUROBIOLOGY IN AGINGR01AG017917 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 2001 to 2023
$43.3MVESICULAR LOCALIZATION AND FUNCTION OF PRESENILIN 1 FRAGMENTP50AG005138 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI GROSSMAN, HILLEL · 1985 to 2019
$37.9MTHE PGRN/TDP-43 AXIS IN ALZHEIMER?S DISEASE AND NEURODEGENERATIONP50AG016574 · NIA · MAYO CLINIC ROCHESTER · PI PETERSEN, RONALD C · 1999 to 2018
$36.9MResearch Education ComponentP30AG019610 · NIA · SUN HEALTH RESEARCH INSTITUTE · PI REIMAN, ERIC MICHAEL · 2001 to 2020
$32.5MIntegrating the exposome and methylome to inform brain molecular changes in ADRD across established diverse cohorts.U01AG046139 · NIA · UNIVERSITY OF FLORIDA · PI ERTEKIN-TANER, NILUFER, FUNK, CORY · 2013 to 2022
$24.6MRISK FACTORS, PATHOLOGY, AND CLINICAL EXPRESSIONS OF ADR01AG015819 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1998 to 2024
$21.4MQUANTITATIVE ANALYSIS OF MICROVASCULAR CHANGES IN THE AGING BRAINP01AG002219 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI HAROUTUNIAN, VAHRAM · 1985 to 2009
$19.2MWhite Matter Abnormalities in SchizophreniaP50MH066392 · NIMH · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI O'DONOVAN, MICHAEL J · 2002 to 2012
$18.6MPathway discovery, validation and compound identification for Alzheimer's disease - SupplementU01AG046152 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BENNETT, DAVID ALAN, DE JAGER, PHILIP L · 2013 to 2017
$13.6MEuropean Research Council 681712NIA NIH HHS P01 AG002219NIA NIH HHS P01 AG003949NIA NIH HHS P01 AG017216NIA NIH HHS P30 AG010161NIA NIH HHS P30 AG019610NIA NIH HHS P50 AG005138NIA NIH HHS P50 AG016574NIA NIH HHS P50 AG025711NIA NIH HHS R01 AG015819NIA NIH HHS R01 AG017917NIA NIH HHS R01 AG018023NIA NIH HHS R01 AG032990NIA NIH HHS R01 AG036836NIA NIH HHS R01 AG048015NIA NIH HHS R01 AG068398NIA NIH HHS U01 AG006786NIA NIH HHS U01 AG046139NIA NIH HHS U01 AG046152NIDA NIH HHS HHSN271201300031CNIMH NIH HHS P50 MH066392NIMH NIH HHS P50 MH084053NIMH NIH HHS R01 MH080405NIMH NIH HHS R01 MH085542NIMH NIH HHS R01 MH093725NIMH NIH HHS R01 MH097276NIMH NIH HHS R01 MH109677NIMH NIH HHS R01 MH109897NIMH NIH HHS R01 MH110921NIMH NIH HHS R37 MH057881NIMH NIH HHS U01 MH103392NINDS NIH HHS R01 NS080820NINDS NIH HHS U24 NS072026
Abstract
Studies of the genetic regulation of cerebrospinal fluid (CSF) proteins may reveal pathways for treatment of neurological diseases. 398 proteins in CSF were measured in 1,591 participants from the BioFINDER study. Protein quantitative trait loci (pQTL) were identified as associations between genetic variants and proteins, with 176 pQTLs for 145 CSF proteins (P < 1.25 × 10
Indexed as
Alzheimer DiseaseParkinson DiseaseADAM ProteinsAntigens, CDBiomarkersHumansMatrix Metalloproteinase 10Membrane GlycoproteinsMembrane ProteinsProteomicsQuantitative Trait LociSialic Acid Binding Immunoglobulin-like LectinsADAM15 protein, humanADAM ProteinsAntigens, CDBiomarkersGPNMB protein, humanMatrix Metalloproteinase 10Membrane GlycoproteinsMembrane ProteinsSialic Acid Binding Immunoglobulin-like LectinsSIGLEC9 protein, humanbiomarkerscerebrospinal fluidgenetic regulationMendelian randomizationpQTL
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