Gorski, Mathias and Van der Most, Peter J. and Teumer, Alexander and Chu, Audrey Y. and Li, Man and Mijatovic, Vladan and Nolte, Ilja M. and Cocca, Massimiliano and Taliun, Daniel and Gomez, Felicia and Li, Yong and Tayo, Bamidele and Tin, Adrienne and Feitosa, Mary F. and Aspelund, Thor and Attia, John and Biffar, Reiner and Bochud, Murielle and Boerwinkle, Eric and Borecki, Ingrid and Bottinger, Erwin P. and Chen, Ming-Huei and Chouraki, Vincent and Ciullo, Marina and Coresh, Josef and Cornelis, Marilyn C. and Curhan, Gary C. and d'Adamo, Adamo Pio and Dehghan, Abbas and Dengler, Laura and Ding, Jingzhong and Eiriksdottir, Gudny and Endlich, Karlhans and Enroth, Stefan and Esko, Tonu and Franco, Oscar H. and Gasparini, Paolo and Gieger, Christian and Girotto, Giorgia and Gottesman, Omri and Gudnason, Vilmundur and Gyllensten, Ulf and Hancock, Stephen J. and Harris, Tamara B. and Helmer, Catherine and Hoellerer, Simon and Hofer, Edith and Hofman, Albert and Holliday, Elizabeth G. and Homuth, Georg and Hu, Frank B. and Huth, Cornelia and Hutri-Kahonen, Nina and Hwang, Shih-Jen and Imboden, Medea and Johansson, Asa and Kahonen, Mika and Koenig, Wolfgang and Kraemer, Holly and Kramer, Bernhard K. and Kumar, Ashish and Kutalik, Zoltan and Lambert, Jean-Charles and Launer, Lenore J. and Lehtimaki, Terho and de Borst, Martin and Navis, Gerjan and Swertz, Morris and Liu, Yongmei and Lohman, Kurt and Loos, Ruth J. F. and Lu, Yingchang and Lyytikainen, Leo-Pekka and McEvoy, Mark A. and Meisinger, Christa and Meitinger, Thomas and Metspalu, Andres and Metzger, Marie and Mihailov, Evelin and Mitchell, Paul and Nauck, Matthias and Oldehinkel, Albertine J. and Olden, Matthias and Penninx, Brenda W. J. H. and Pistis, Giorgio and Pramstaller, Peter P. and Probst-Hensch, Nicole and Raitakari, Olli T. and Rettig, Rainer and Ridker, Paul M. and Rivadeneira, Fernando and Robino, Antonietta and Rosas, Sylvia E. and Ruderfer, Douglas and Ruggiero, Daniela and Saba, Yasaman and Sala, Cinzia and Schmidt, Helena and Schmidt, Reinhold and Scott, Rodney J. and Sedaghat, Sanaz and Smith, Albert V. and Sorice, Rossella and Stengel, Benedicte and Stracke, Sylvia and Strauch, Konstantin and Toniolo, Daniela and Uitterlinden, Andre G. and Ulivi, Sheila and Viikari, Jorma S. and Voelker, Uwe and Vollenweider, Peter and Voelzke, Henry and Vuckovic, Dragana and Waldenberger, Melanie and Wang, Jie Jin and Yang, Qiong and Chasman, Daniel I. and Tromp, Gerard and Snieder, Harold and Heid, Iris M. and Fox, Caroline S. and Koettgen, Anna and Pattaro, Cristian and Boeger, Carsten A. and Fuchsberger, Christian (2017) 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. SCIENTIFIC REPORTS, 7: 45040. ISSN 2045-2322,
Full text not available from this repository. (Request a copy)Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | GLOMERULAR-FILTRATION-RATE; COMMUNITY-BASED POPULATION; WIDE ASSOCIATION; SERUM CREATININE; GENOTYPE IMPUTATION; LINKAGE ANALYSIS; DISEASE; VARIANTS; INTEGRATION; HERITABILITY; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Nephrologie Medicine > Institut für Epidemiologie und Präventivmedizin > Lehrstuhl für Genetische Epidemiologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 Dec 2018 13:10 |
| Last Modified: | 25 Feb 2019 12:21 |
| URI: | https://pred.uni-regensburg.de/id/eprint/1009 |
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