Sökning: onr:"swepub:oai:DiVA.org:uu-275521" > Genetic association...
Fältnamn | Indikatorer | Metadata |
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000 | 17659naa a2204261 4500 | |
001 | oai:DiVA.org:uu-275521 | |
003 | SwePub | |
008 | 160204s2016 | |||||||||||000 ||eng| | |
009 | oai:lup.lub.lu.se:cf4d2963-8fdc-45d0-a3ec-1c894cb0f1a4 | |
009 | oai:gup.ub.gu.se/240722 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2755212 URI |
024 | 7 | a https://doi.org/10.1038/ncomms100232 DOI |
024 | 7 | a https://lup.lub.lu.se/record/cf4d2963-8fdc-45d0-a3ec-1c894cb0f1a42 URI |
024 | 7 | a https://gup.ub.gu.se/publication/2407222 URI |
040 | a (SwePub)uud (SwePub)lud (SwePub)gu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Pattaro, Cristianu University of Lübeck4 aut |
245 | 1 0 | a Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function |
264 | c 2016-01-21 | |
264 | 1 | b Springer Science and Business Media LLC,c 2016 |
338 | a electronic2 rdacarrier | |
500 | a Lars Lind ingår i ECHOGen Consortium | |
520 | a 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. | |
650 | 7 | a NATURVETENSKAPx Biologix Genetik0 (SwePub)106092 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Genetics0 (SwePub)106092 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Urologi och njurmedicin0 (SwePub)302142 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Urology and Nephrology0 (SwePub)302142 hsv//eng |
653 | a biological marker | |
653 | a creatinine | |
653 | a cystatin C | |
653 | a deoxyribonuclease I | |
653 | a morpholino oligonucleotide | |
653 | a cardiovascular disease | |
653 | a cells and cell components | |
653 | a diabetes | |
653 | a enzyme activity | |
653 | a genetic analysis | |
653 | a glucose | |
653 | a meta-analysis | |
653 | a metabolism | |
653 | a physiological response | |
653 | a adrenal cortex | |
653 | a adrenal gland | |
653 | a adult | |
653 | a Article | |
653 | a bioinformatics | |
653 | a chromatin | |
653 | a controlled study | |
653 | a creatinine blood level | |
653 | a diabetes mellitus | |
653 | a embryo | |
653 | a embryonic stem cell | |
653 | a ethnic group | |
653 | a ethnicity | |
653 | a gene locus | |
653 | a gene replication | |
653 | a genetic association | |
653 | a genetic susceptibility | |
653 | a genetic variability | |
653 | a genotype | |
653 | a glomerulus filtration rate | |
653 | a glucose metabolism | |
653 | a human | |
653 | a human cell | |
653 | a hypertension | |
653 | a kidney cell | |
653 | a kidney development | |
653 | a kidney epithelium | |
653 | a kidney function | |
653 | a kidney parenchyma | |
653 | a kidney proximal tubule | |
653 | a kidney structure | |
653 | a phenotype | |
653 | a single nucleotide polymorphism | |
653 | a chronic kidney failure | |
653 | a gene expression regulation | |
653 | a genetic predisposition | |
653 | a genetics | |
653 | a genome-wide association study | |
653 | a meta analysis | |
653 | a Gene Expression Regulation | |
653 | a Genetic Predisposition to Disease | |
653 | a Genome-Wide Association Study | |
653 | a Genotype | |
653 | a Humans | |
653 | a Renal Insufficiency, Chronic | |
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700 | 1 | a Lind, Larsu Uppsala universitet,Kardiovaskulär epidemiologi4 aut0 (Swepub:uu)larslind |
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700 | 1 | a Melander, O.u 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 Groups4 aut0 (Swepub:lu)endo-ome |
700 | 1 | a Nilsson, P.u Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)medf-pni |
700 | 1 | a Dahgam, Santoshu 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 medicine4 aut0 (Swepub:gu)xdaghs |
700 | 1 | a Nyberg, Fredrik,d 1961u 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 medicine4 aut0 (Swepub:gu)xnybef |
700 | 1 | a Rosengren, Annika,d 1951u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för molekylär och klinisk medicin,Institute of Medicine, Department of Molecular and Clinical Medicine4 aut0 (Swepub:gu)xrosan |
710 | 2 | a University of Lübeckb Medicinsk genetik och genomik4 org |
773 | 0 | t Nature Communicationsd : Springer Science and Business Media LLCg 7q 7x 2041-1723 |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:900445/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://www.nature.com/articles/ncomms10023.pdf |
856 | 4 | u http://dx.doi.org/10.1038/ncomms10023x freey FULLTEXT |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-275521 |
856 | 4 8 | u https://doi.org/10.1038/ncomms10023 |
856 | 4 8 | u https://lup.lub.lu.se/record/cf4d2963-8fdc-45d0-a3ec-1c894cb0f1a4 |
856 | 4 8 | u https://gup.ub.gu.se/publication/240722 |
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