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dc.contributor.authorNatri, Heini M
dc.contributor.authorHudjashov, Georgi
dc.contributor.authorJacobs, Guy
dc.contributor.authorKusuma, Pradiptajati
dc.contributor.authorSaag, Lauri
dc.contributor.authorDarusallam, Chelzie Crenna
dc.contributor.authorMetspalu, Mait
dc.contributor.authorSudoyo, Herawati
dc.contributor.authorCox, Murray P
dc.contributor.authorGallego Romero, Irene
dc.contributor.authorBanovich, Nicholas E
dc.date.accessioned2022-02-04T00:30:54Z
dc.date.available2022-02-04T00:30:54Z
dc.date.issued2022-01-06
dc.identifier.issn0002-9297
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/333623
dc.description.abstractLack of diversity in human genomics limits our understanding of the genetic underpinnings of complex traits, hinders precision medicine, and contributes to health disparities. To map genetic effects on gene regulation in the underrepresented Indonesian population, we have integrated genotype, gene expression, and CpG methylation data from 115 participants across three island populations that capture the major sources of genomic diversity in the region. In a comparison with European datasets, we identify eQTLs shared between Indonesia and Europe as well as population-specific eQTLs that exhibit differences in allele frequencies and/or overall expression levels between populations. By combining local ancestry and archaic introgression inference with eQTLs and methylQTLs, we identify regulatory loci driven by modern Papuan ancestry as well as introgressed Denisovan and Neanderthal variation. GWAS colocalization connects QTLs detected here to hematological traits, and further comparison with European datasets reflects the poor overall transferability of GWAS statistics across diverse populations. Our findings illustrate how population-specific genetic architecture, local ancestry, and archaic introgression drive variation in gene regulation across genetically distinct and in admixed populations and highlight the need for performing association studies on non-European populations.
dc.format.mediumPrint-Electronic
dc.publisherElsevier BV
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectDNA methylation
dc.subjectIndonesia
dc.subjectancestry
dc.subjectcolocalization
dc.subjectdiverse populations
dc.subjecteQTL
dc.subjectgene expression
dc.subjectgenomics
dc.subjectlocal ancestry
dc.subjectmethylation QTL
dc.titleGenetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries.
dc.typeArticle
dc.publisher.departmentDepartment of Archaeology
dc.date.updated2022-02-03T10:36:28Z
prism.endingPage65
prism.issueIdentifier1
prism.publicationDate2022
prism.publicationNameAm J Hum Genet
prism.startingPage50
prism.volume109
dc.identifier.doi10.17863/CAM.81039
dcterms.dateAccepted2021-11-16
rioxxterms.versionofrecord10.1016/j.ajhg.2021.11.017
rioxxterms.versionVoR
dc.contributor.orcidJacobs, Guy Sherwin [0000-0002-4698-7758]
dc.identifier.eissn1537-6605
rioxxterms.typeJournal Article/Review
cam.issuedOnline2021-12-16
cam.depositDate2022-02-03
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