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Genetic association...
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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
Publisher, publication year, extent ...
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2016-01-21
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Springer Science and Business Media LLC,2016
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electronicrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-275521
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-275521URI
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https://doi.org/10.1038/ncomms10023DOI
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https://lup.lub.lu.se/record/cf4d2963-8fdc-45d0-a3ec-1c894cb0f1a4URI
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https://gup.ub.gu.se/publication/240722URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Lars Lind ingår i ECHOGen Consortium
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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.
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Zonderman, Alan B
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Shuldiner, Alan R
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Johansson, ÅsaUppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab(Swepub:uu)asjoh108
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Sala, CinziaHarvard Medical School
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van Duijn, Cornelia M
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Fernandes, Jyotika K
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Butterbach, Katja
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Lind, LarsUppsala universitet,Kardiovaskulär epidemiologi(Swepub:uu)larslind
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Waldenberger, Melanie
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Pruijm, Menno
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Sjögren, M.Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups(Swepub:lu)endo-msj
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Turner, Stephen T
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Rosas, Sylvia E
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Igl, WilmarUppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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Lieb, Wolfgang
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Loos, Ruth J F
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Snieder, Harold
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Pramstaller, Peter P
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Parsa, Afshin
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O'Connell, Jeffrey R
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Susztak, Katalin
(author)
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Hamet, Pavel
(author)
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Tremblay, Johanne
(author)
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Hedblad, B.Lund University,Lunds universitet,Kardiovaskulär forskning - epidemiologi,Forskargrupper vid Lunds universitet,Cardiovascular Research - Epidemiology,Lund University Research Groups(Swepub:lu)medf-bhe
(author)
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Böger, Carsten A
(author)
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Goessling, Wolfram
(author)
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Chasman, Daniel I
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Köttgen, Anna
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Kao, W H Linda
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Fox, Caroline S
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Lind, LarsUppsala universitet,Kardiovaskulär epidemiologi(Swepub:uu)larslind
(contributor)
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Fava, C.Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups(Swepub:lu)endo-cfa
(author)
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Melander, O.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(Swepub:lu)endo-ome
(author)
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Nilsson, P.Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups(Swepub:lu)medf-pni
(author)
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Dahgam, SantoshGothenburg 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)xdaghs
(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)
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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)
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University of LübeckMedicinsk genetik och genomik
(creator_code:org_t)
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Hamet, Pavel
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Tremblay, Johann ...
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Hedblad, B.
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Böger, Carsten A
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Goessling, Wolfr ...
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Chasman, Daniel ...
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Köttgen, Anna
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Kao, W H Linda
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Fox, Caroline S
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Fava, C.
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Melander, O.
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Nilsson, P.
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Dahgam, Santosh
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Nyberg, Fredrik, ...
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Rosengren, Annik ...
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- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Urology and Neph ...
- Articles in the publication
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Nature Communica ...
- By the university
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Uppsala University
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Lund University
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University of Gothenburg