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

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Pattaro, CristianUniversity of Lübeck (author)

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

Article/chapterEnglish2016

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2016-01-21
Springer Science and Business Media LLC,2016
electronicrdacarrier

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LIBRIS-ID:oai:DiVA.org:uu-275521
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-275521URI
https://doi.org/10.1038/ncomms10023DOI
https://lup.lub.lu.se/record/cf4d2963-8fdc-45d0-a3ec-1c894cb0f1a4URI
https://gup.ub.gu.se/publication/240722URI

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Language:English
Summary in:English

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Subject category:ref swepub-contenttype
Subject category:art swepub-publicationtype

Notes

Lars Lind ingår i ECHOGen Consortium
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 and genre

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
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

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Chu, Audrey Y (author)
Li, Man (author)
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Nyberg, Fredrik,1961Gothenburg 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(Swepub:gu)xnybef (author)
Rosengren, Annika,1951Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine(Swepub:gu)xrosan (author)
University of LübeckMedicinsk genetik och genomik (creator_code:org_t)

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By the author/editor: Pattaro, Cristia ...; Teumer, Alexande ...; Gorski, Mathias; Chu, Audrey Y; Li, Man; Mijatovic, Vlada ...; show more...; Garnaas, Maija; Tin, Adrienne; Sorice, Rossella; Li, Yong; Taliun, Daniel; Olden, Matthias; Foster, Meredith; Yang, Qiong; Chen, Ming-Huei; Pers, Tune H; Johnson, Andrew ...; Ko, Yi-An; Fuchsberger, Chr ...; Tayo, Bamidele; Nalls, Michael; Feitosa, Mary F; Isaacs, Aaron; Dehghan, Abbas; d'Adamo, Pio; Adeyemo, Adebowa ...; Dieffenbach, Aid ...; Zonderman, Alan ...; Nolte, Ilja M; van der Most, Pe ...; Wright, Alan F; Shuldiner, Alan ...; Morrison, Alanna ...; Hofman, Albert; Smith, Albert V; Dreisbach, Alber ...; Franke, Andre; Uitterlinden, An ...; Metspalu, Andres; Tonjes, Anke; Lupo, Antonio; Robino, Antoniet ...; Johansson, Åsa; Demirkan, Ayse; Kollerits, Barba ...; Freedman, Barry ...; Ponte, Belen; Oostra, Ben A; Paulweber, Bernh ...; Krämer, Bernhard ...; Mitchell, Braxto ...; Buckley, Brendan ...; Peralta, Carmen ...; Hayward, Carolin ...; Helmer, Catherin ...; Rotimi, Charles ...; Shaffer, Christi ...; Müller, Christia ...; Sala, Cinzia; van Duijn, Corne ...; Saint-Pierre, Au ...; Ackermann, Danie ...; Shriner, Daniel; Ruggiero, Daniel ...; Toniolo, Daniela; Lu, Yingchang; Cusi, Daniele; Czamara, Darina; Ellinghaus, Davi ...; Siscovick, David ...; Ruderfer, Dougla ...; Gieger, Christia ...; Grallert, Harald; Rochtchina, Elen ...; Atkinson, Elizab ...; Holliday, Elizab ...; Boerwinkle, Eric; Salvi, Erika; Bottinger, Erwin ...; Murgia, Federico; Rivadeneira, Fer ...; Ernst, Florian; Kronenberg, Flor ...; Hu, Frank B; Navis, Gerjan J; Curhan, Gary C; Ehret, George B; Homuth, Georg; Coassin, Stefan; Thun, Gian-Andri; Pistis, Giorgio; Gambaro, Giovann ...; Malerba, Giovann ...; Montgomery, Gran ...; Eiriksdottir, Gu ...; Jacobs, Gunnar; Li, Guo; Wichmann, H-Eric ...; 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; Felix, Janine F; Divers, Jasmin; Lambert, Jean-Ch ...; Stafford, Jeanet ...; Gaspoz, Jean-Mic ...; Smith, Jennifer ...; Faul, Jessica D; Wang, Jie Jin; Ding, Jingzhong; Hirschhorn, Joel ...; Attia, John; Whitfield, John ...; Chalmers, John; Viikari, Jorma; Coresh, Josef; Denny, Joshua C; Karjalainen, Juh ...; Fernandes, Jyoti ...; Endlich, Karlhan ...; Butterbach, Katj ...; Lind, Lars; Lohman, Kurt; Portas, Laura; Launer, Lenore J; Lyytikäinen, Leo ...; Yengo, Loic; Franke, Lude; Ferrucci, Luigi; Rose, Lynda M; Kedenko, Lyudmyl ...; Rao, Madhumathi; Struchalin, Maks ...; Kleber, Marcus E; Cavalieri, Margh ...; Haun, Margot; Cornelis, Marily ...; Ciullo, Marina; Pirastu, Mario; de Andrade, Mari ...; McEvoy, Mark A; Woodward, Mark; Adam, Martin; Cocca, Massimili ...; Nauck, Matthias; Imboden, Medea; Waldenberger, Me ...; Pruijm, Menno; Sjögren, M.; Stumvoll, Michae ...; Evans, Michele K; Sale, Michele M; Kähönen, Mika; Boban, Mladen; Bochud, Murielle; Rheinberger, Myr ...; Verweij, Niek; Bouatia-Naji, Na ...; Martin, Nicholas ...; Hastie, Nick; Probst-Hensch, N ...; Soranzo, Nicole; Devuyst, Olivier; Raitakari, Olli; Gottesman, Omri; Franco, Oscar H; Polasek, Ozren; Gasparini, Paolo; Munroe, Patricia ...; Ridker, Paul M; Mitchell, Paul; Muntner, Paul; Meisinger, Chris ...; Smit, Johannes H; Kovacs, Peter; Wild, Philipp S; Froguel, Philipp ...; Rettig, Rainer; Mägi, Reedik; Biffar, Reiner; Schmidt, Reinhol ...; Middelberg, Rita ...; Carroll, Robert ...; Penninx, Brenda ...; Scott, Rodney J; Katz, Ronit; Sedaghat, Sanaz; Wild, Sarah H; Kardia, Sharon L ...; Ulivi, Sheila; Hwang, Shih-Jen; Enroth, Stefan; Kloiber, Stefan; Trompet, Stella; Stengel, Benedic ...; Hancock, Stephen ...; Turner, Stephen ...; Rosas, Sylvia E; Stracke, Sylvia; Harris, Tamara B; Zeller, Tanja; Zemunik, Tatijan ...; Lehtimäki, Terho; Illig, Thomas; Aspelund, Thor; Nikopensius, Tii ...; Esko, Tonu; Tanaka, Toshiko; Gyllensten, Ulf; Völker, Uwe; Emilsson, Valur; Vitart, Veroniqu ...; Aalto, Ville; Gudnason, Vilmun ...; Chouraki, Vincen ...; Chen, Wei-Min; Igl, Wilmar; März, Winfried; Koenig, Wolfgang; Lieb, Wolfgang; Loos, Ruth J F; Liu, Yongmei; Snieder, Harold; Pramstaller, Pet ...; Parsa, Afshin; O'Connell, Jeffr ...; Susztak, Katalin; Hamet, Pavel; Tremblay, Johann ...; Hedblad, B.; Böger, Carsten A; Goessling, Wolfr ...; Chasman, Daniel ...; Köttgen, Anna; Kao, W H Linda; Fox, Caroline S; Fava, C.; Melander, O.; Nilsson, P.; Dahgam, Santosh; Nyberg, Fredrik, ...; Rosengren, Annik ...; show less...

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