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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Pattaro, Cristian (author)
University of Lübeck
Teumer, Alexander (author)
Gorski, Mathias (author)
show more...
Chu, Audrey Y (author)
Li, Man (author)
Mijatovic, Vladan (author)
Garnaas, Maija (author)
Tin, Adrienne (author)
Sorice, Rossella (author)
Li, Yong (author)
Taliun, Daniel (author)
Olden, Matthias (author)
Foster, Meredith (author)
Yang, Qiong (author)
Chen, Ming-Huei (author)
Pers, Tune H (author)
Johnson, Andrew D (author)
Ko, Yi-An (author)
Fuchsberger, Christian (author)
Tayo, Bamidele (author)
Nalls, Michael (author)
Feitosa, Mary F (author)
Isaacs, Aaron (author)
Dehghan, Abbas (author)
d'Adamo, Pio (author)
Adeyemo, Adebowale (author)
Dieffenbach, Aida Karina (author)
Zonderman, Alan B (author)
Nolte, Ilja M (author)
van der Most, Peter J (author)
Wright, Alan F (author)
Shuldiner, Alan R (author)
Morrison, Alanna C (author)
Hofman, Albert (author)
Smith, Albert V (author)
Dreisbach, Albert W (author)
Franke, Andre (author)
Uitterlinden, Andre G (author)
Metspalu, Andres (author)
Tonjes, Anke (author)
Lupo, Antonio (author)
Robino, Antonietta (author)
Johansson, Åsa (author)
Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
Demirkan, Ayse (author)
Kollerits, Barbara (author)
Freedman, Barry I (author)
Ponte, Belen (author)
Oostra, Ben A (author)
Paulweber, Bernhard (author)
Krämer, Bernhard K (author)
Mitchell, Braxton D (author)
Buckley, Brendan M (author)
Peralta, Carmen A (author)
Hayward, Caroline (author)
Helmer, Catherine (author)
Rotimi, Charles N (author)
Shaffer, Christian M (author)
Müller, Christian (author)
Sala, Cinzia (author)
Harvard Medical School
van Duijn, Cornelia M (author)
Saint-Pierre, Aude (author)
Ackermann, Daniel (author)
Shriner, Daniel (author)
Ruggiero, Daniela (author)
Toniolo, Daniela (author)
Lu, Yingchang (author)
Cusi, Daniele (author)
Czamara, Darina (author)
Ellinghaus, David (author)
Siscovick, David S (author)
Ruderfer, Douglas (author)
Gieger, Christian (author)
Grallert, Harald (author)
Rochtchina, Elena (author)
Atkinson, Elizabeth J (author)
Holliday, Elizabeth G (author)
Boerwinkle, Eric (author)
Salvi, Erika (author)
Bottinger, Erwin P (author)
Murgia, Federico (author)
Rivadeneira, Fernando (author)
Ernst, Florian (author)
Kronenberg, Florian (author)
Hu, Frank B (author)
Navis, Gerjan J (author)
Curhan, Gary C (author)
Ehret, George B (author)
Homuth, Georg (author)
Coassin, Stefan (author)
Thun, Gian-Andri (author)
Pistis, Giorgio (author)
Gambaro, Giovanni (author)
Malerba, Giovanni (author)
Montgomery, Grant W (author)
Eiriksdottir, Gudny (author)
Jacobs, Gunnar (author)
Li, Guo (author)
Wichmann, H-Erich (author)
Campbell, Harry (author)
Schmidt, Helena (author)
Wallaschofski, Henri (author)
Völzke, Henry (author)
Brenner, Hermann (author)
Kroemer, Heyo K (author)
Kramer, Holly (author)
Lin, Honghuang (author)
Mateo Leach, I (author)
Ford, Ian (author)
Guessous, Idris (author)
Rudan, Igor (author)
Prokopenko, Inga (author)
Borecki, Ingrid (author)
Heid, Iris M (author)
Kolcic, Ivana (author)
Persico, Ivana (author)
Jukema, J Wouter (author)
Wilson, James F (author)
Felix, Janine F (author)
Divers, Jasmin (author)
Lambert, Jean-Charles (author)
Stafford, Jeanette M (author)
Gaspoz, Jean-Michel (author)
Smith, Jennifer A (author)
Faul, Jessica D (author)
Wang, Jie Jin (author)
Ding, Jingzhong (author)
Hirschhorn, Joel N (author)
Attia, John (author)
Whitfield, John B (author)
Chalmers, John (author)
Viikari, Jorma (author)
Coresh, Josef (author)
Denny, Joshua C (author)
Karjalainen, Juha (author)
Fernandes, Jyotika K (author)
Endlich, Karlhans (author)
Butterbach, Katja (author)
Lind, Lars (author)
Uppsala universitet,Kardiovaskulär epidemiologi
Lohman, Kurt (author)
Portas, Laura (author)
Launer, Lenore J (author)
Lyytikäinen, Leo-Pekka (author)
Yengo, Loic (author)
Franke, Lude (author)
Ferrucci, Luigi (author)
Rose, Lynda M (author)
Kedenko, Lyudmyla (author)
Rao, Madhumathi (author)
Struchalin, Maksim (author)
Kleber, Marcus E (author)
Cavalieri, Margherita (author)
Haun, Margot (author)
Cornelis, Marilyn C (author)
Ciullo, Marina (author)
Pirastu, Mario (author)
de Andrade, Mariza (author)
McEvoy, Mark A (author)
Woodward, Mark (author)
Adam, Martin (author)
Cocca, Massimiliano (author)
Nauck, Matthias (author)
Imboden, Medea (author)
Waldenberger, Melanie (author)
Pruijm, Menno (author)
Sjögren, M. (author)
Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups
Stumvoll, Michael (author)
Evans, Michele K (author)
Sale, Michele M (author)
Kähönen, Mika (author)
Boban, Mladen (author)
Bochud, Murielle (author)
Rheinberger, Myriam (author)
Verweij, Niek (author)
Bouatia-Naji, Nabila (author)
Martin, Nicholas G (author)
Hastie, Nick (author)
Probst-Hensch, Nicole (author)
Soranzo, Nicole (author)
Devuyst, Olivier (author)
Raitakari, Olli (author)
Gottesman, Omri (author)
Franco, Oscar H (author)
Polasek, Ozren (author)
Gasparini, Paolo (author)
Munroe, Patricia B (author)
Ridker, Paul M (author)
Mitchell, Paul (author)
Muntner, Paul (author)
Meisinger, Christa (author)
Smit, Johannes H (author)
Kovacs, Peter (author)
Wild, Philipp S (author)
Froguel, Philippe (author)
Rettig, Rainer (author)
Mägi, Reedik (author)
Biffar, Reiner (author)
Schmidt, Reinhold (author)
Middelberg, Rita P S (author)
Carroll, Robert J (author)
Penninx, Brenda W (author)
Scott, Rodney J (author)
Katz, Ronit (author)
Sedaghat, Sanaz (author)
Wild, Sarah H (author)
Kardia, Sharon L R (author)
Ulivi, Sheila (author)
Hwang, Shih-Jen (author)
Enroth, Stefan (author)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik,Gyllensten
Kloiber, Stefan (author)
Trompet, Stella (author)
Stengel, Benedicte (author)
Hancock, Stephen J (author)
Turner, Stephen T (author)
Rosas, Sylvia E (author)
Stracke, Sylvia (author)
Harris, Tamara B (author)
Zeller, Tanja (author)
Zemunik, Tatijana (author)
Lehtimäki, Terho (author)
Illig, Thomas (author)
Aspelund, Thor (author)
Nikopensius, Tiit (author)
Esko, Tonu (author)
Tanaka, Toshiko (author)
Gyllensten, Ulf (author)
Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
Völker, Uwe (author)
Emilsson, Valur (author)
Vitart, Veronique (author)
Aalto, Ville (author)
Gudnason, Vilmundur (author)
Chouraki, Vincent (author)
Chen, Wei-Min (author)
Igl, Wilmar (author)
Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
März, Winfried (author)
Koenig, Wolfgang (author)
Lieb, Wolfgang (author)
Loos, Ruth J F (author)
Liu, Yongmei (author)
Snieder, Harold (author)
Pramstaller, Peter P (author)
Parsa, Afshin (author)
O'Connell, Jeffrey R (author)
Susztak, Katalin (author)
Hamet, Pavel (author)
Tremblay, Johanne (author)
Hedblad, B. (author)
Lund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups
Böger, Carsten A (author)
Goessling, Wolfram (author)
Chasman, Daniel I (author)
Köttgen, Anna (author)
Kao, W H Linda (author)
Fox, Caroline S (author)
Lind, Lars (contributor)
Uppsala universitet,Kardiovaskulär epidemiologi
Fava, C. (author)
Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups
Melander, O. (author)
Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Department of Clinical Sciences, Malmö,Faculty of Medicine,Cardiovascular Research - Hypertension,Lund University Research Groups
Nilsson, P. (author)
Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups
Dahgam, Santosh (author)
Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för samhällsmedicin och folkhälsa, enheten för arbets-och miljömedicin,Institute of Medicine, Department of Public Health and Community Medicine, Section of Occupational and environmental medicine
Nyberg, Fredrik, 1961 (author)
Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för samhällsmedicin och folkhälsa, enheten för arbets-och miljömedicin,Institute of Medicine, Department of Public Health and Community Medicine, Section of Occupational and environmental medicine
Rosengren, Annika, 1951 (author)
Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine
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 (creator_code:org_t)
2016-01-21
2016
English.
In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.

Subject headings

NATURVETENSKAP  -- Biologi -- Genetik (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences -- Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Urologi och njurmedicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Urology and Nephrology (hsv//eng)

Keyword

biological marker
creatinine
cystatin C
deoxyribonuclease I
morpholino oligonucleotide
cardiovascular disease
cells and cell components
diabetes
enzyme activity
genetic analysis
glucose
meta-analysis
metabolism
physiological response
adrenal cortex
adrenal gland
adult
Article
bioinformatics
chromatin
controlled study
creatinine blood level
diabetes mellitus
embryo
embryonic stem cell
ethnic group
ethnicity
gene locus
gene replication
genetic association
genetic susceptibility
genetic variability
genotype
glomerulus filtration rate
glucose metabolism
human
human cell
hypertension
kidney cell
kidney development
kidney epithelium
kidney function
kidney parenchyma
kidney proximal tubule
kidney structure
phenotype
single nucleotide polymorphism
chronic kidney failure
gene expression regulation
genetic predisposition
genetics
genome-wide association study
meta analysis
Gene Expression Regulation
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Humans
Renal Insufficiency, Chronic

Publication and Content Type

ref (subject category)
art (subject category)

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Pattaro, Cristia ...
Teumer, Alexande ...
Gorski, Mathias
Chu, Audrey Y
Li, Man
Mijatovic, Vlada ...
show more...
Garnaas, Maija
Tin, Adrienne
Sorice, Rossella
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Chen, Ming-Huei
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Johnson, Andrew ...
Ko, Yi-An
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Dieffenbach, Aid ...
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Nolte, Ilja M
van der Most, Pe ...
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Smith, Albert V
Dreisbach, Alber ...
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Uitterlinden, An ...
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Robino, Antoniet ...
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Paulweber, Bernh ...
Krämer, Bernhard ...
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van Duijn, Corne ...
Saint-Pierre, Au ...
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Kronenberg, Flor ...
Hu, Frank B
Navis, Gerjan J
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Ehret, George B
Homuth, Georg
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Pistis, Giorgio
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Montgomery, Gran ...
Eiriksdottir, Gu ...
Jacobs, Gunnar
Li, Guo
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Campbell, Harry
Schmidt, Helena
Wallaschofski, H ...
Völzke, Henry
Brenner, Hermann
Kroemer, Heyo K
Kramer, Holly
Lin, Honghuang
Mateo Leach, I
Ford, Ian
Guessous, Idris
Rudan, Igor
Prokopenko, Inga
Borecki, Ingrid
Heid, Iris M
Kolcic, Ivana
Persico, Ivana
Jukema, J Wouter
Wilson, James F
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Lambert, Jean-Ch ...
Stafford, Jeanet ...
Gaspoz, Jean-Mic ...
Smith, Jennifer ...
Faul, Jessica D
Wang, Jie Jin
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Hirschhorn, Joel ...
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Whitfield, John ...
Chalmers, John
Viikari, Jorma
Coresh, Josef
Denny, Joshua C
Karjalainen, Juh ...
Fernandes, Jyoti ...
Endlich, Karlhan ...
Butterbach, Katj ...
Lind, Lars
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Launer, Lenore J
Lyytikäinen, Leo ...
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Franke, Lude
Ferrucci, Luigi
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Kedenko, Lyudmyl ...
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Kleber, Marcus E
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Haun, Margot
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McEvoy, Mark A
Woodward, Mark
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Imboden, Medea
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Lehtimäki, Terho
Illig, Thomas
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Esko, Tonu
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Aalto, Ville
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Chouraki, Vincen ...
Chen, Wei-Min
Igl, Wilmar
März, Winfried
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Lieb, Wolfgang
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Pramstaller, Pet ...
Parsa, Afshin
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Susztak, Katalin
Hamet, Pavel
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Hedblad, B.
Böger, Carsten A
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Chasman, Daniel ...
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About the subject
NATURAL SCIENCES
NATURAL SCIENCES
and Biological Scien ...
and Genetics
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Basic Medicine
and Medical Genetics
MEDICAL AND HEALTH SCIENCES
MEDICAL AND HEAL ...
and Clinical Medicin ...
and Urology and Neph ...
Articles in the publication
Nature Communica ...
By the university
Uppsala University
Lund University
University of Gothenburg

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