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dc.contributor.authorHoggart, Clive J
dc.contributor.authorVenturini, Giulia
dc.contributor.authorMangino, Massimo
dc.contributor.authorGomez, Felicia
dc.contributor.authorAscari, Giulia
dc.contributor.authorZhao, Jing Hua
dc.contributor.authorTeumer, Alexander
dc.contributor.authorWinkler, Thomas W
dc.contributor.authorTšernikova, Natalia
dc.contributor.authorLuan, Jian'an
dc.contributor.authorMihailov, Evelin
dc.contributor.authorEhret, Georg B
dc.contributor.authorZhang, Weihua
dc.contributor.authorLamparter, David
dc.contributor.authorEsko, Tõnu
dc.contributor.authorMacé, Aurelien
dc.contributor.authorRüeger, Sina
dc.contributor.authorBochud, Pierre-Yves
dc.contributor.authorBarcella, Matteo
dc.contributor.authorDauvilliers, Yves
dc.contributor.authorBenyamin, Beben
dc.contributor.authorEvans, David M
dc.contributor.authorHayward, Caroline
dc.contributor.authorLopez, Mary F
dc.contributor.authorFranke, Lude
dc.contributor.authorRusso, Alessia
dc.contributor.authorHeid, Iris M
dc.contributor.authorSalvi, Erika
dc.contributor.authorVendantam, Sailaja
dc.contributor.authorArking, Dan E
dc.contributor.authorBoerwinkle, Eric
dc.contributor.authorChambers, John C
dc.contributor.authorFiorito, Giovanni
dc.contributor.authorGrallert, Harald
dc.contributor.authorGuarrera, Simonetta
dc.contributor.authorHomuth, Georg
dc.contributor.authorHuffman, Jennifer E
dc.contributor.authorPorteous, David
dc.contributor.authorGeneration Scotland Consortium
dc.contributor.authorLifeLines Cohort study
dc.contributor.authorGIANT Consortium
dc.contributor.authorMoradpour, Darius
dc.contributor.authorIranzo, Alex
dc.contributor.authorHebebrand, Johannes
dc.contributor.authorKemp, John P
dc.contributor.authorLammers, Gert J
dc.contributor.authorAubert, Vincent
dc.contributor.authorHeim, Markus H
dc.contributor.authorMartin, Nicholas G
dc.contributor.authorMontgomery, Grant W
dc.contributor.authorPeraita-Adrados, Rosa
dc.contributor.authorSantamaria, Joan
dc.contributor.authorNegro, Francesco
dc.contributor.authorSchmidt, Carsten O
dc.contributor.authorScott, Robert A
dc.contributor.authorSpector, Tim D
dc.contributor.authorStrauch, Konstantin
dc.contributor.authorVölzke, Henry
dc.contributor.authorWareham, Nicholas J
dc.contributor.authorYuan, Wei
dc.contributor.authorBell, Jordana T
dc.contributor.authorChakravarti, Aravinda
dc.contributor.authorKooner, Jaspal S
dc.contributor.authorPeters, Annette
dc.contributor.authorMatullo, Giuseppe
dc.contributor.authorWallaschofski, Henri
dc.contributor.authorWhitfield, John B
dc.contributor.authorPaccaud, Fred
dc.contributor.authorVollenweider, Peter
dc.contributor.authorBergmann, Sven
dc.contributor.authorBeckmann, Jacques S
dc.contributor.authorTafti, Mehdi
dc.contributor.authorHastie, Nicholas D
dc.contributor.authorCusi, Daniele
dc.contributor.authorBochud, Murielle
dc.contributor.authorFrayling, Timothy M
dc.contributor.authorMetspalu, Andres
dc.contributor.authorJarvelin, Marjo-Riitta
dc.contributor.authorScherag, André
dc.contributor.authorSmith, George Davey
dc.contributor.authorBorecki, Ingrid B
dc.contributor.authorRousson, Valentin
dc.contributor.authorHirschhorn, Joel N
dc.contributor.authorRivolta, Carlo
dc.contributor.authorLoos, Ruth JF
dc.contributor.authorKutalik, Zoltán
dc.date.accessioned2018-11-09T00:30:21Z
dc.date.available2018-11-09T00:30:21Z
dc.date.issued2014-07
dc.identifier.issn1553-7390
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/284876
dc.description.abstractThe phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P<0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity.
dc.format.mediumElectronic-eCollection
dc.languageeng
dc.publisherPublic Library of Science (PLoS)
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectGeneration Scotland Consortium
dc.subjectLifeLines Cohort study
dc.subjectGIANT Consortium
dc.subjectHumans
dc.subjectObesity
dc.subjectGenetic Predisposition to Disease
dc.subjectPotassium Channels, Tandem Pore Domain
dc.subjectBody Mass Index
dc.subjectGene Expression Regulation
dc.subjectGenomic Imprinting
dc.subjectGenotype
dc.subjectPolymorphism, Single Nucleotide
dc.subjectAdult
dc.subjectEuropean Continental Ancestry Group
dc.subjectFemale
dc.subjectMale
dc.subjectGlucose Transport Proteins, Facilitative
dc.subjectGenome-Wide Association Study
dc.titleNovel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.
dc.typeArticle
prism.issueIdentifier7
prism.publicationDate2014
prism.publicationNamePLoS Genet
prism.startingPagee1004508
prism.volume10
dc.identifier.doi10.17863/CAM.32249
dcterms.dateAccepted2014-05-14
rioxxterms.versionofrecord10.1371/journal.pgen.1004508
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2014-07-31
dc.contributor.orcidLuan, Jian'an [0000-0003-3137-6337]
dc.contributor.orcidWareham, Nicholas [0000-0003-1422-2993]
dc.identifier.eissn1553-7404
rioxxterms.typeJournal Article/Review
pubs.funder-project-idMedical Research Council (MC_UU_12015/1)
pubs.funder-project-idMedical Research Council (G0701863)
pubs.funder-project-idMedical Research Council (MC_U106179471)
pubs.funder-project-idBritish Heart Foundation (None)
pubs.funder-project-idEuropean Commission (279143)
cam.issuedOnline2014-07-31


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