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Gorski, Mathias ; van der Most, Peter J. ; Teumer, Alexander ; Chu, Audrey Y. ; Li, Man ; Mijatovic, Vladan ; Nolte, Ilja M. ; Cocca, Massimiliano ; Taliun, Daniel ; Gomez, Felicia ; Li, Yong ; Tayo, Bamidele ; Tin, Adrienne ; Feitosa, Mary F. ; Aspelund, Thor ; Attia, John ; Biffar, Reiner ; Bochud, Murielle ; Boerwinkle, Eric ; Borecki, Ingrid ; Bottinger, Erwin P. ; Chen, Ming-Huei ; Chouraki, Vincent ; Ciullo, Marina ; Coresh, Josef ; Cornelis, Marilyn C. ; Curhan, Gary C. ; d’Adamo, Adamo Pio ; Dehghan, Abbas ; Dengler, Laura ; Ding, Jingzhong ; Eiriksdottir, Gudny ; Endlich, Karlhans ; Enroth, Stefan ; Esko, Tõnu ; Franco, Oscar H. ; Gasparini, Paolo ; Gieger, Christian ; Girotto, Giorgia ; Gottesman, Omri ; Gudnason, Vilmundur ; Gyllensten, Ulf ; Hancock, Stephen J. ; Harris, Tamara B. ; Helmer, Catherine ; Höllerer, Simon ; Hofer, Edith ; Hofman, Albert ; Holliday, Elizabeth G. ; Homuth, Georg ; Hu, Frank B. ; Huth, Cornelia ; Hutri-Kähönen, Nina ; Hwang, Shih-Jen ; Imboden, Medea ; Johansson, Åsa ; Kähönen, Mika ; König, Wolfgang ; Kramer, Holly ; Krämer, Bernhard K. ; Kumar, Ashish ; Kutalik, Zoltan ; Lambert, Jean-Charles ; Launer, Lenore J. ; Lehtimäki, Terho ; de Borst, Martin ; Navis, Gerjan ; Swertz, Morris ; Liu, Yongmei ; Lohman, Kurt ; Loos, Ruth J. F. ; Lu, Yingchang ; Lyytikäinen, Leo-Pekka ; McEvoy, Mark A. ; Meisinger, Christa ; Meitinger, Thomas ; Metspalu, Andres ; Metzger, Marie ; Mihailov, Evelin ; Mitchell, Paul ; Nauck, Matthias ; Oldehinkel, Albertine J. ; Olden, Matthias ; Penninx, Brenda W. J. H. ; Pistis, Giorgio ; Pramstaller, Peter P. ; Probst-Hensch, Nicole ; Raitakari, Olli T. ; Rettig, Rainer ; Ridker, Paul M. ; Rivadeneira, Fernando ; Robino, Antonietta ; Rosas, Sylvia E. ; Ruderfer, Douglas ; Ruggiero, Daniela ; Saba, Yasaman ; Sala, Cinzia ; Schmidt, Helena ; Schmidt, Reinhold ; Scott, Rodney J. ; Sedaghat, Sanaz ; Smith, Albert V. ; Sorice, Rossella ; Stengel, Benedicte ; Stracke, Sylvia ; Strauch, Konstantin ; Toniolo, Daniela ; Uitterlinden, Andre G. ; Ulivi, Sheila ; Viikari, Jorma S. ; Völker, Uwe ; Vollenweider, Peter ; Völzke, Henry ; Vuckovic, Dragana ; Waldenberger, Melanie ; Jin Wang, Jie ; Yang, Qiong ; Chasman, Daniel I. ; Tromp, Gerard ; Snieder, Harold ; Heid, Iris M. ; Fox, Caroline S. ; Köttgen, Anna ; Pattaro, Cristian ; Böger, Carsten A. ; Fuchsberger, Christian

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

Gorski, Mathias, van der Most, Peter J., Teumer, Alexander, Chu, Audrey Y., Li, Man , Mijatovic, Vladan, Nolte, Ilja M., Cocca, Massimiliano , Taliun, Daniel, Gomez, Felicia, Li, Yong , Tayo, Bamidele, Tin, Adrienne, Feitosa, Mary F., Aspelund, Thor , Attia, John, Biffar, Reiner, Bochud, Murielle, Boerwinkle, Eric, Borecki, Ingrid, Bottinger, Erwin P., Chen, Ming-Huei, Chouraki, Vincent , Ciullo, Marina , Coresh, Josef, Cornelis, Marilyn C., Curhan, Gary C., d’Adamo, Adamo Pio , Dehghan, Abbas, Dengler, Laura, Ding, Jingzhong, Eiriksdottir, Gudny, Endlich, Karlhans , Enroth, Stefan , Esko, Tõnu, Franco, Oscar H. , Gasparini, Paolo, Gieger, Christian, Girotto, Giorgia, Gottesman, Omri, Gudnason, Vilmundur, Gyllensten, Ulf, Hancock, Stephen J., Harris, Tamara B., Helmer, Catherine, Höllerer, Simon, Hofer, Edith, Hofman, Albert, Holliday, Elizabeth G., Homuth, Georg, Hu, Frank B., Huth, Cornelia , Hutri-Kähönen, Nina, Hwang, Shih-Jen, Imboden, Medea, Johansson, Åsa , Kähönen, Mika , König, Wolfgang, Kramer, Holly, Krämer, Bernhard K., Kumar, Ashish, Kutalik, Zoltan, Lambert, Jean-Charles , Launer, Lenore J., Lehtimäki, Terho, de Borst, Martin, Navis, Gerjan, Swertz, Morris, Liu, Yongmei, Lohman, Kurt, Loos, Ruth J. F. , Lu, Yingchang, Lyytikäinen, Leo-Pekka, McEvoy, Mark A., Meisinger, Christa, Meitinger, Thomas, Metspalu, Andres, Metzger, Marie, Mihailov, Evelin, Mitchell, Paul, Nauck, Matthias, Oldehinkel, Albertine J., Olden, Matthias, Penninx, Brenda W. J. H., Pistis, Giorgio, Pramstaller, Peter P., Probst-Hensch, Nicole, Raitakari, Olli T., Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Robino, Antonietta, Rosas, Sylvia E., Ruderfer, Douglas, Ruggiero, Daniela, Saba, Yasaman, Sala, Cinzia, Schmidt, Helena, Schmidt, Reinhold, Scott, Rodney J., Sedaghat, Sanaz, Smith, Albert V. , Sorice, Rossella, Stengel, Benedicte , Stracke, Sylvia, Strauch, Konstantin, Toniolo, Daniela, Uitterlinden, Andre G., Ulivi, Sheila, Viikari, Jorma S., Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Vuckovic, Dragana, Waldenberger, Melanie , Jin Wang, Jie, Yang, Qiong, Chasman, Daniel I., Tromp, Gerard, Snieder, Harold, Heid, Iris M., Fox, Caroline S., Köttgen, Anna, Pattaro, Cristian, Böger, Carsten A. und Fuchsberger, Christian (2017) 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Scientific Reports 2017 (7), S. 45040.

Veröffentlichungsdatum dieses Volltextes: 25 Jan 2018 12:05
Artikel
DOI zum Zitieren dieses Dokuments: 10.5283/epub.36582


Zusammenfassung

HapMap 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 ...

HapMap 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 x 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 wholegenome sequencing becomes feasible in large samples.



Beteiligte Einrichtungen


Details

DokumentenartArtikel
Titel eines Journals oder einer ZeitschriftScientific Reports
Verlag:Nature
Ort der Veröffentlichung:LONDON
Band:2017
Nummer des Zeitschriftenheftes oder des Kapitels:7
Seitenbereich:S. 45040
Datum28 April 2017
InstitutionenMedizin > Abteilung für Nephrologie
Medizin > Institut für Epidemiologie und Präventivmedizin > Lehrstuhl für Genetische Epidemiologie
Identifikationsnummer
WertTyp
10.1038/srep45040DOI
Stichwörter / KeywordsGLOMERULAR-FILTRATION-RATE; COMMUNITY-BASED POPULATION; WIDE ASSOCIATION; SERUM CREATININE; GENOTYPE IMPUTATION; LINKAGE ANALYSIS; DISEASE; VARIANTS; INTEGRATION; HERITABILITY;
Dewey-Dezimal-Klassifikation600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin
StatusVeröffentlicht
BegutachtetJa, diese Version wurde begutachtet
An der Universität Regensburg entstandenJa
URN der UB Regensburgurn:nbn:de:bvb:355-epub-365822
Dokumenten-ID36582

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