Search: (WFRF:(Ciullo Marina)) pers:(Robino Antonietta) > 1000 Genomes-based ...
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000 | 07644naa a2201825 4500 | |
001 | oai:DiVA.org:uu-321625 | |
003 | SwePub | |
008 | 170509s2017 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:135784369 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3216252 URI |
024 | 7 | a https://doi.org/10.1038/srep450402 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1357843692 URI |
040 | a (SwePub)uud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Gorski, Mathias4 aut |
245 | 1 0 | a 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. |
264 | c 2017-04-28 | |
264 | 1 | b Springer Science and Business Media LLC,c 2017 |
338 | a electronic2 rdacarrier | |
520 | a 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 × 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. | |
700 | 1 | a van der Most, Peter J4 aut |
700 | 1 | a Teumer, Alexander4 aut |
700 | 1 | a Chu, Audrey Y4 aut |
700 | 1 | a Li, Man4 aut |
700 | 1 | a Mijatovic, Vladan4 aut |
700 | 1 | a Nolte, Ilja M4 aut |
700 | 1 | a Cocca, Massimiliano4 aut |
700 | 1 | a Taliun, Daniel4 aut |
700 | 1 | a Gomez, Felicia4 aut |
700 | 1 | a Li, Yong4 aut |
700 | 1 | a Tayo, Bamidele4 aut |
700 | 1 | a Tin, Adrienne4 aut |
700 | 1 | a Feitosa, Mary F4 aut |
700 | 1 | a Aspelund, Thor4 aut |
700 | 1 | a Attia, John4 aut |
700 | 1 | a Biffar, Reiner4 aut |
700 | 1 | a Bochud, Murielle4 aut |
700 | 1 | a Boerwinkle, Eric4 aut |
700 | 1 | a Borecki, Ingrid4 aut |
700 | 1 | a Bottinger, Erwin P4 aut |
700 | 1 | a Chen, Ming-Huei4 aut |
700 | 1 | a Chouraki, Vincent4 aut |
700 | 1 | a Ciullo, Marina4 aut |
700 | 1 | a Coresh, Josef4 aut |
700 | 1 | a Cornelis, Marilyn C4 aut |
700 | 1 | a Curhan, Gary C4 aut |
700 | 1 | a d'Adamo, Adamo Pio4 aut |
700 | 1 | a Dehghan, Abbas4 aut |
700 | 1 | a Dengler, Laura4 aut |
700 | 1 | a Ding, Jingzhong4 aut |
700 | 1 | a Eiriksdottir, Gudny4 aut |
700 | 1 | a Endlich, Karlhans4 aut |
700 | 1 | a Enroth, Stefan,d 1976-u Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)stenr451 |
700 | 1 | a Esko, Tõnu4 aut |
700 | 1 | a Franco, Oscar H4 aut |
700 | 1 | a Gasparini, Paolo4 aut |
700 | 1 | a Gieger, Christian4 aut |
700 | 1 | a Girotto, Giorgia4 aut |
700 | 1 | a Gottesman, Omri4 aut |
700 | 1 | a Gudnason, Vilmundur4 aut |
700 | 1 | a Gyllensten, Ulf4 aut |
700 | 1 | a Hancock, Stephen J4 aut |
700 | 1 | a Harris, Tamara B4 aut |
700 | 1 | a Helmer, Catherine4 aut |
700 | 1 | a Höllerer, Simon4 aut |
700 | 1 | a Hofer, Edith4 aut |
700 | 1 | a Hofman, Albert4 aut |
700 | 1 | a Holliday, Elizabeth G4 aut |
700 | 1 | a Homuth, Georg4 aut |
700 | 1 | a Hu, Frank B4 aut |
700 | 1 | a Huth, Cornelia4 aut |
700 | 1 | a Hutri-Kähönen, Nina4 aut |
700 | 1 | a Hwang, Shih-Jen4 aut |
700 | 1 | a Imboden, Medea4 aut |
700 | 1 | a Johansson, Åsau Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)asjoh108 |
700 | 1 | a Kähönen, Mika4 aut |
700 | 1 | a König, Wolfgang4 aut |
700 | 1 | a Kramer, Holly4 aut |
700 | 1 | a Krämer, Bernhard K4 aut |
700 | 1 | a Kumar, Ashish4 aut |
700 | 1 | a Kutalik, Zoltan4 aut |
700 | 1 | a Lambert, Jean-Charles4 aut |
700 | 1 | a Launer, Lenore J4 aut |
700 | 1 | a Lehtimäki, Terho4 aut |
700 | 1 | a de Borst, Martin4 aut |
700 | 1 | a Navis, Gerjan4 aut |
700 | 1 | a Swertz, Morris4 aut |
700 | 1 | a Liu, Yongmei4 aut |
700 | 1 | a Lohman, Kurt4 aut |
700 | 1 | a Loos, Ruth J F4 aut |
700 | 1 | a Lu, Yingchang4 aut |
700 | 1 | a Lyytikäinen, Leo-Pekka4 aut |
700 | 1 | a McEvoy, Mark A4 aut |
700 | 1 | a Meisinger, Christa4 aut |
700 | 1 | a Meitinger, Thomas4 aut |
700 | 1 | a Metspalu, Andres4 aut |
700 | 1 | a Metzger, Marie4 aut |
700 | 1 | a Mihailov, Evelin4 aut |
700 | 1 | a Mitchell, Paul4 aut |
700 | 1 | a Nauck, Matthias4 aut |
700 | 1 | a Oldehinkel, Albertine J4 aut |
700 | 1 | a Olden, Matthias4 aut |
700 | 1 | a Wjh Penninx, Brenda4 aut |
700 | 1 | a Pistis, Giorgio4 aut |
700 | 1 | a Pramstaller, Peter P4 aut |
700 | 1 | a Probst-Hensch, Nicole4 aut |
700 | 1 | a Raitakari, Olli T4 aut |
700 | 1 | a Rettig, Rainer4 aut |
700 | 1 | a Ridker, Paul M4 aut |
700 | 1 | a Rivadeneira, Fernando4 aut |
700 | 1 | a Robino, Antonietta4 aut |
700 | 1 | a Rosas, Sylvia E4 aut |
700 | 1 | a Ruderfer, Douglas4 aut |
700 | 1 | a Ruggiero, Daniela4 aut |
700 | 1 | a Saba, Yasaman4 aut |
700 | 1 | a Sala, Cinzia4 aut |
700 | 1 | a Schmidt, Helena4 aut |
700 | 1 | a Schmidt, Reinhold4 aut |
700 | 1 | a Scott, Rodney J4 aut |
700 | 1 | a Sedaghat, Sanaz4 aut |
700 | 1 | a Smith, Albert V4 aut |
700 | 1 | a Sorice, Rossella4 aut |
700 | 1 | a Stengel, Benedicte4 aut |
700 | 1 | a Stracke, Sylvia4 aut |
700 | 1 | a Strauch, Konstantin4 aut |
700 | 1 | a Toniolo, Daniela4 aut |
700 | 1 | a Uitterlinden, Andre G4 aut |
700 | 1 | a Ulivi, Sheila4 aut |
700 | 1 | a Viikari, Jorma S4 aut |
700 | 1 | a Völker, Uwe4 aut |
700 | 1 | a Vollenweider, Peter4 aut |
700 | 1 | a Völzke, Henry4 aut |
700 | 1 | a Vuckovic, Dragana4 aut |
700 | 1 | a Waldenberger, Melanie4 aut |
700 | 1 | a Jin Wang, Jie4 aut |
700 | 1 | a Yang, Qiong4 aut |
700 | 1 | a Chasman, Daniel I4 aut |
700 | 1 | a Tromp, Gerard4 aut |
700 | 1 | a Snieder, Harold4 aut |
700 | 1 | a Heid, Iris M4 aut |
700 | 1 | a Fox, Caroline S4 aut |
700 | 1 | a Köttgen, Anna4 aut |
700 | 1 | a Pattaro, Cristian4 aut |
700 | 1 | a Böger, Carsten A4 aut |
700 | 1 | a Fuchsberger, Christian4 aut |
710 | 2 | a Uppsala universitetb Institutionen för immunologi, genetik och patologi4 org |
773 | 0 | t Scientific Reportsd : Springer Science and Business Media LLCg 7q 7x 2045-2322 |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1094201/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://www.nature.com/articles/srep45040.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-321625 |
856 | 4 8 | u https://doi.org/10.1038/srep45040 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:135784369 |
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