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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.accessioned2021-12-15T16:27:39Z
dc.date.available2021-12-15T16:27:39Z
dc.date.issued2021-12-02
dc.date.submitted2021-04-15
dc.identifier.issn2041-1723
dc.identifier.others41467-021-27387-1
dc.identifier.other27387
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/331526
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.languageen
dc.publisherSpringer Science and Business Media LLC
dc.subjectArticle
dc.subject/631/208/205/2138
dc.subject/631/208/366
dc.subject/692/53/2423
dc.subject/692/699/375
dc.subject/45
dc.subject/45/43
dc.subject/45/23
dc.subject/82/1
dc.subject/82/80
dc.subjectarticle
dc.titleMapping the serum proteome to neurological diseases using whole genome sequencing.
dc.typeArticle
dc.date.updated2021-12-15T16:27:39Z
prism.issueIdentifier1
prism.publicationNameNat Commun
prism.volume12
dc.identifier.doi10.17863/CAM.78980
dcterms.dateAccepted2021-11-11
rioxxterms.versionofrecord10.1038/s41467-021-27387-1
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
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
pubs.funder-project-idMedical Research Council (MC_UU_12015/1)
pubs.funder-project-idMRC (MC_PC_13046)
cam.issuedOnline2021-12-02


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