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dc.contributor.authorPng, Grace
dc.contributor.authorBarysenka, Andrei
dc.contributor.authorRepetto, Linda
dc.contributor.authorNavarro, Pau
dc.contributor.authorShen, Xia
dc.contributor.authorPietzner, Maik
dc.contributor.authorWheeler, Eleanor
dc.contributor.authorWareham, Nicholas
dc.contributor.authorLangenberg, Claudia
dc.contributor.authorTsafantakis, Emmanouil
dc.contributor.authorKaraleftheri, Maria
dc.contributor.authorDedoussis, George
dc.contributor.authorMälarstig, Anders
dc.contributor.authorWilson, James F
dc.contributor.authorGilly, Arthur
dc.contributor.authorZeggini, Eleftheria
dc.date.accessioned2021-12-14T00:30:44Z
dc.date.available2021-12-14T00:30:44Z
dc.date.issued2021-12-02
dc.identifier.issn2041-1723
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/331372
dc.description.abstractDespite the increasing global burden of neurological disorders, there is a lack of effective diagnostic and therapeutic biomarkers. Proteins are often dysregulated in disease and have a strong genetic component. Here, we carry out a protein quantitative trait locus analysis of 184 neurologically-relevant proteins, using whole genome sequencing data from two isolated population-based cohorts (N = 2893). In doing so, we elucidate the genetic landscape of the circulating proteome and its connection to neurological disorders. We detect 214 independently-associated variants for 107 proteins, the majority of which (76%) are cis-acting, including 114 variants that have not been previously identified. Using two-sample Mendelian randomisation, we identify causal associations between serum CD33 and Alzheimer's disease, GPNMB and Parkinson's disease, and MSR1 and schizophrenia, describing their clinical potential and highlighting drug repurposing opportunities.
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleMapping the serum proteome to neurological diseases using whole genome sequencing.
dc.typeArticle
dc.publisher.departmentMrc Epidemiology Unit
dc.publisher.departmentoffice of The School of Clinical Medicine
dc.date.updated2021-12-10T11:19:29Z
prism.issueIdentifier1
prism.number7042
prism.publicationDate2021
prism.publicationNameNat Commun
prism.startingPage7042
prism.volume12
dc.identifier.doi10.17863/CAM.78823
dcterms.dateAccepted2021-11-11
rioxxterms.versionofrecord10.1038/s41467-021-27387-1
rioxxterms.versionVoR
dc.contributor.orcidPng, Grace [0000-0003-3962-7436]
dc.contributor.orcidNavarro, Pau [0000-0001-5576-8584]
dc.contributor.orcidShen, Xia [0000-0003-4390-1979]
dc.contributor.orcidPietzner, Maik [0000-0003-3437-9963]
dc.contributor.orcidWheeler, Eleanor [0000-0002-8616-6444]
dc.contributor.orcidWareham, Nicholas [0000-0003-1422-2993]
dc.contributor.orcidLangenberg, Claudia [0000-0002-5017-7344]
dc.contributor.orcidMälarstig, Anders [0000-0003-2608-1358]
dc.contributor.orcidWilson, James F [0000-0001-5751-9178]
dc.contributor.orcidZeggini, Eleftheria [0000-0003-4238-659X]
dc.identifier.eissn2041-1723
rioxxterms.typeJournal Article/Review
pubs.funder-project-idMedical Research Council (MC_UU_12015/1)
pubs.funder-project-idMRC (MC_PC_13046)
cam.issuedOnline2021-12-02
cam.depositDate2021-12-10
pubs.licence-identifierapollo-deposit-licence-2-1
pubs.licence-display-nameApollo Repository Deposit Licence Agreement


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International