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1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

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cam.issuedOnline2017-04-28
dc.contributor.authorGorski, Mathias
dc.contributor.authorvan der Most, Peter J
dc.contributor.authorTeumer, Alexander
dc.contributor.authorChu, Audrey Y
dc.contributor.authorLi, Man
dc.contributor.authorMijatovic, Vladan
dc.contributor.authorNolte, Ilja M
dc.contributor.authorCocca, Massimiliano
dc.contributor.authorTaliun, Daniel
dc.contributor.authorGomez, Felicia
dc.contributor.authorLi, Yong
dc.contributor.authorTayo, Bamidele
dc.contributor.authorTin, Adrienne
dc.contributor.authorFeitosa, Mary F
dc.contributor.authorAspelund, Thor
dc.contributor.authorAttia, John
dc.contributor.authorBiffar, Reiner
dc.contributor.authorBochud, Murielle
dc.contributor.authorBoerwinkle, Eric
dc.contributor.authorBorecki, Ingrid
dc.contributor.authorBottinger, Erwin P
dc.contributor.authorChen, Ming-Huei
dc.contributor.authorChouraki, Vincent
dc.contributor.authorCiullo, Marina
dc.contributor.authorCoresh, Josef
dc.contributor.authorCornelis, Marilyn C
dc.contributor.authorCurhan, Gary C
dc.contributor.authord'Adamo, Adamo Pio
dc.contributor.authorDehghan, Abbas
dc.contributor.authorDengler, Laura
dc.contributor.authorDing, Jingzhong
dc.contributor.authorEiriksdottir, Gudny
dc.contributor.authorEndlich, Karlhans
dc.contributor.authorEnroth, Stefan
dc.contributor.authorEsko, Tõnu
dc.contributor.authorFranco, Oscar H
dc.contributor.authorGasparini, Paolo
dc.contributor.authorGieger, Christian
dc.contributor.authorGirotto, Giorgia
dc.contributor.authorGottesman, Omri
dc.contributor.authorGudnason, Vilmundur
dc.contributor.authorGyllensten, Ulf
dc.contributor.authorHancock, Stephen J
dc.contributor.authorHarris, Tamara B
dc.contributor.authorHelmer, Catherine
dc.contributor.authorHöllerer, Simon
dc.contributor.authorHofer, Edith
dc.contributor.authorHofman, Albert
dc.contributor.authorHolliday, Elizabeth G
dc.contributor.authorHomuth, Georg
dc.contributor.authorHu, Frank B
dc.contributor.authorHuth, Cornelia
dc.contributor.authorHutri-Kähönen, Nina
dc.contributor.authorHwang, Shih-Jen
dc.contributor.authorImboden, Medea
dc.contributor.authorJohansson, Åsa
dc.contributor.authorKähönen, Mika
dc.contributor.authorKönig, Wolfgang
dc.contributor.authorKramer, Holly
dc.contributor.authorKrämer, Bernhard K
dc.contributor.authorKumar, Ashish
dc.contributor.authorKutalik, Zoltan
dc.contributor.authorLambert, Jean-Charles
dc.contributor.authorLauner, Lenore J
dc.contributor.authorLehtimäki, Terho
dc.contributor.authorde Borst, Martin
dc.contributor.authorNavis, Gerjan
dc.contributor.authorSwertz, Morris
dc.contributor.authorLiu, Yongmei
dc.contributor.authorLohman, Kurt
dc.contributor.authorLoos, Ruth JF
dc.contributor.authorLu, Yingchang
dc.contributor.authorLyytikäinen, Leo-Pekka
dc.contributor.authorMcEvoy, Mark A
dc.contributor.authorMeisinger, Christa
dc.contributor.authorMeitinger, Thomas
dc.contributor.authorMetspalu, Andres
dc.contributor.authorMetzger, Marie
dc.contributor.authorMihailov, Evelin
dc.contributor.authorMitchell, Paul
dc.contributor.authorNauck, Matthias
dc.contributor.authorOldehinkel, Albertine J
dc.contributor.authorOlden, Matthias
dc.contributor.authorWjh Penninx, Brenda
dc.contributor.authorPistis, Giorgio
dc.contributor.authorPramstaller, Peter P
dc.contributor.authorProbst-Hensch, Nicole
dc.contributor.authorRaitakari, Olli T
dc.contributor.authorRettig, Rainer
dc.contributor.authorRidker, Paul M
dc.contributor.authorRivadeneira, Fernando
dc.contributor.authorRobino, Antonietta
dc.contributor.authorRosas, Sylvia E
dc.contributor.authorRuderfer, Douglas
dc.contributor.authorRuggiero, Daniela
dc.contributor.authorSaba, Yasaman
dc.contributor.authorSala, Cinzia
dc.contributor.authorSchmidt, Helena
dc.contributor.authorSchmidt, Reinhold
dc.contributor.authorScott, Rodney J
dc.contributor.authorSedaghat, Sanaz
dc.contributor.authorSmith, Albert V
dc.contributor.authorSorice, Rossella
dc.contributor.authorStengel, Benedicte
dc.contributor.authorStracke, Sylvia
dc.contributor.authorStrauch, Konstantin
dc.contributor.authorToniolo, Daniela
dc.contributor.authorUitterlinden, Andre G
dc.contributor.authorUlivi, Sheila
dc.contributor.authorViikari, Jorma S
dc.contributor.authorVölker, Uwe
dc.contributor.authorVollenweider, Peter
dc.contributor.authorVölzke, Henry
dc.contributor.authorVuckovic, Dragana
dc.contributor.authorWaldenberger, Melanie
dc.contributor.authorJin Wang, Jie
dc.contributor.authorYang, Qiong
dc.contributor.authorChasman, Daniel I
dc.contributor.authorTromp, Gerard
dc.contributor.authorSnieder, Harold
dc.contributor.authorHeid, Iris M
dc.contributor.authorFox, Caroline S
dc.contributor.authorKöttgen, Anna
dc.contributor.authorPattaro, Cristian
dc.contributor.authorBöger, Carsten A
dc.contributor.authorFuchsberger, Christian
dc.contributor.orcidTeumer, Alexander [0000-0002-8309-094X]
dc.contributor.orcidCocca, Massimiliano [0000-0002-1127-7596]
dc.contributor.orcidFeitosa, Mary F [0000-0002-0933-2410]
dc.contributor.orcidAspelund, Thor [0000-0002-7998-5433]
dc.contributor.orcidChouraki, Vincent [0000-0002-4698-1794]
dc.contributor.orcidCiullo, Marina [0000-0002-9621-9984]
dc.contributor.orcidd'Adamo, Adamo Pio [0000-0001-9367-4909]
dc.contributor.orcidEndlich, Karlhans [0000-0001-6052-6061]
dc.contributor.orcidEnroth, Stefan [0000-0002-5056-9137]
dc.contributor.orcidFranco, Oscar H [0000-0002-4606-4929]
dc.contributor.orcidGasparini, Paolo [0000-0002-0859-0856]
dc.contributor.orcidGirotto, Giorgia [0000-0003-4507-6589]
dc.contributor.orcidGottesman, Omri [0000-0002-1840-8464]
dc.contributor.orcidGudnason, Vilmundur [0000-0001-5696-0084]
dc.contributor.orcidHuth, Cornelia [0000-0003-2421-433X]
dc.contributor.orcidJohansson, Åsa [0000-0002-2915-4498]
dc.contributor.orcidKähönen, Mika [0000-0002-4510-7341]
dc.contributor.orcidLambert, Jean-Charles [0000-0003-0829-7817]
dc.contributor.orcidde Borst, Martin [0000-0002-4127-8733]
dc.contributor.orcidLoos, Ruth JF [0000-0002-8532-5087]
dc.contributor.orcidMetzger, Marie [0000-0003-3597-5409]
dc.contributor.orcidPramstaller, Peter P [0000-0002-9831-8302]
dc.contributor.orcidRobino, Antonietta [0000-0003-2152-2353]
dc.contributor.orcidRuggiero, Daniela [0000-0003-3898-7827]
dc.contributor.orcidSmith, Albert V [0000-0003-1942-5845]
dc.contributor.orcidStengel, Benedicte [0000-0001-9469-0804]
dc.contributor.orcidVölker, Uwe [0000-0002-5689-3448]
dc.contributor.orcidVuckovic, Dragana [0000-0001-9343-6142]
dc.contributor.orcidTromp, Gerard [0000-0002-7761-0806]
dc.date.accessioned2018-11-22T00:32:09Z
dc.date.available2018-11-22T00:32:09Z
dc.date.issued2017-04-28
dc.description.abstractHapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-analysis of kidney function based on the estimated glomerular filtration rate (eGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value < 5 × 10-8 previously missed by HapMap-based GWAS. Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. Using pathway analysis, we identified 39 significant (FDR < 0.05) genes and 127 significantly (FDR < 0.05) enriched gene sets, which were missed by our previous analyses. Among those, the 10 identified novel genes are part of pathways of kidney development, carbohydrate metabolism, cardiac septum development and glucose metabolism. These results highlight the utility of re-imputing from denser reference panels, until whole-genome sequencing becomes feasible in large samples.
dc.format.mediumElectronic
dc.identifier.doi10.17863/CAM.33001
dc.identifier.eissn2045-2322
dc.identifier.issn2045-2322
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/285649
dc.languageeng
dc.language.isoeng
dc.publisherSpringer Science and Business Media LLC
dc.publisher.urlhttp://dx.doi.org/10.1038/srep45040
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectComputational Biology
dc.subjectGene Frequency
dc.subjectGenetic Loci
dc.subjectGenome, Human
dc.subjectGenome-Wide Association Study
dc.subjectGenotyping Techniques
dc.subjectHumans
dc.subjectKidney
dc.subjectPolymorphism, Single Nucleotide
dc.title1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
dc.typeArticle
dcterms.dateAccepted2017-02-20
prism.publicationDate2017
prism.publicationNameSci Rep
prism.startingPage45040
prism.volume7
rioxxterms.licenseref.startdate2017-04-28
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.typeJournal Article/Review
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1038/srep45040

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