Sökning: onr:"swepub:oai:lup.lub.lu.se:25b3d4ea-e329-4e1c-9b8a-0f88f5cddb45" > Genome-Wide Associa...
Fältnamn | Indikatorer | Metadata |
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000 | 07488naa a2201213 4500 | |
001 | oai:lup.lub.lu.se:25b3d4ea-e329-4e1c-9b8a-0f88f5cddb45 | |
003 | SwePub | |
008 | 160401s2010 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/17527862 URI |
024 | 7 | a https://doi.org/10.1371/journal.pgen.10011772 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Padmanabhan, Sandosh4 aut |
245 | 1 0 | a Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension |
264 | c 2010-10-28 | |
264 | 1 | b Public Library of Science (PLoS),c 2010 |
338 | a electronic2 rdacarrier | |
520 | a Hypertension is a heritable and major contributor to the global burden of disease. The sum of rare and common genetic variants robustly identified so far explain only 1%-2% of the population variation in BP and hypertension. This suggests the existence of more undiscovered common variants. We conducted a genome-wide association study in 1,621 hypertensive cases and 1,699 controls and follow-up validation analyses in 19,845 cases and 16,541 controls using an extreme case-control design. We identified a locus on chromosome 16 in the 59 region of Uromodulin (UMOD; rs13333226, combined P value of 3.6x10(-11)). The minor G allele is associated with a lower risk of hypertension (OR [95% CI]: 0.87 [0.84-0.91]), reduced urinary uromodulin excretion, better renal function; and each copy of the G allele is associated with a 7.7% reduction in risk of CVD events after adjusting for age, sex, BMI, and smoking status (H.R. = 0.923, 95% CI 0.860-0.991; p = 0.027). In a subset of 13,446 individuals with estimated glomerular filtration rate (eGFR) measurements, we show that rs13333226 is independently associated with hypertension (unadjusted for eGFR: 0.89 [0.83-0.96], p = 0.004; after eGFR adjustment: 0.89 [0.83-0.96], p = 0.003). In clinical functional studies, we also consistently show the minor G allele is associated with lower urinary uromodulin excretion. The exclusive expression of uromodulin in the thick portion of the ascending limb of Henle suggests a putative role of this variant in hypertension through an effect on sodium homeostasis. The newly discovered UMOD locus for hypertension has the potential to give new insights into the role of uromodulin in BP regulation and to identify novel drugable targets for reducing cardiovascular risk. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Kardiologi0 (SwePub)302062 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cardiac and Cardiovascular Systems0 (SwePub)302062 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 |
700 | 1 | a Melander, Olleu Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups4 aut0 (Swepub:lu)endo-ome |
700 | 1 | a Johnson, Toby4 aut |
700 | 1 | a Di Blasio, Anna Maria4 aut |
700 | 1 | a Lee, Wai K.4 aut |
700 | 1 | a Gentilini, Davide4 aut |
700 | 1 | a Hastie, Claire E.4 aut |
700 | 1 | a Menni, Cristina4 aut |
700 | 1 | a Monti, Maria Cristina4 aut |
700 | 1 | a Delles, Christian4 aut |
700 | 1 | a Laing, Stewart4 aut |
700 | 1 | a Corso, Barbara4 aut |
700 | 1 | a Navis, Gerjan4 aut |
700 | 1 | a Kwakernaak, Arjan J.4 aut |
700 | 1 | a van der Harst, Pim4 aut |
700 | 1 | a Bochud, Murielle4 aut |
700 | 1 | a Maillard, Marc4 aut |
700 | 1 | a Burnier, Michel4 aut |
700 | 1 | a Hedner, Thomas4 aut |
700 | 1 | a Kjeldsen, Sverre4 aut |
700 | 1 | a Wahlstrand, Bjorn4 aut |
700 | 1 | a Sjögren, Marketau Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups4 aut0 (Swepub:lu)endo-msj |
700 | 1 | a Fava, Cristianou Lund University,Lunds universitet,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Cardiovascular Research - Hypertension,Lund University Research Groups4 aut0 (Swepub:lu)endo-cfa |
700 | 1 | a Montagnana, Martinau Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine4 aut0 (Swepub:lu)med-mmn |
700 | 1 | a Danese, Elisa4 aut |
700 | 1 | a Torffvit, Oleu Lund University,Lunds universitet,Njurmedicin,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Nephrology,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)med-oto |
700 | 1 | a Hedblad, Bou Lund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Department of Clinical Sciences, Malmö,Faculty of Medicine4 aut0 (Swepub:lu)medf-bhe |
700 | 1 | a Snieder, Harold4 aut |
700 | 1 | a Connell, John M. C.4 aut |
700 | 1 | a Brown, Morris4 aut |
700 | 1 | a Samani, Nilesh J.4 aut |
700 | 1 | a Farrall, Martin4 aut |
700 | 1 | a Cesana, Giancarlo4 aut |
700 | 1 | a Mancia, Giuseppe4 aut |
700 | 1 | a Signorini, Stefano4 aut |
700 | 1 | a Grassi, Guido4 aut |
700 | 1 | a Eyheramendy, Susana4 aut |
700 | 1 | a Wichmann, H. Erich4 aut |
700 | 1 | a Laan, Maris4 aut |
700 | 1 | a Strachan, David P.4 aut |
700 | 1 | a Sever, Peter4 aut |
700 | 1 | a Shields, Denis Colm4 aut |
700 | 1 | a Stanton, Alice4 aut |
700 | 1 | a Vollenweider, Peter4 aut |
700 | 1 | a Teumer, Alexander4 aut |
700 | 1 | a Voelzke, Henry4 aut |
700 | 1 | a Rettig, Rainer4 aut |
700 | 1 | a Newton-Cheh, Christopher4 aut |
700 | 1 | a Arora, Pankaj4 aut |
700 | 1 | a Zhang, Feng4 aut |
700 | 1 | a Soranzo, Nicole4 aut |
700 | 1 | a Spector, Timothy D.4 aut |
700 | 1 | a Lucas, Gavin4 aut |
700 | 1 | a Kathiresan, Sekar4 aut |
700 | 1 | a Siscovick, David S.4 aut |
700 | 1 | a Luan, Jian'an4 aut |
700 | 1 | a Loos, Ruth J. F.4 aut |
700 | 1 | a Wareham, Nicholas J.4 aut |
700 | 1 | a Penninx, Brenda W.4 aut |
700 | 1 | a Nolte, Ilja M.4 aut |
700 | 1 | a McBride, Martin4 aut |
700 | 1 | a Miller, William H.4 aut |
700 | 1 | a Nicklin, Stuart A.4 aut |
700 | 1 | a Baker, Andrew H.4 aut |
700 | 1 | a Graham, Delyth4 aut |
700 | 1 | a McDonald, Robert A.4 aut |
700 | 1 | a Pell, Jill P.4 aut |
700 | 1 | a Sattar, Naveed4 aut |
700 | 1 | a Welsh, Paul4 aut |
700 | 1 | a Munroe, Patricia4 aut |
700 | 1 | a Caulfield, Mark J.4 aut |
700 | 1 | a Zanchetti, Alberto4 aut |
700 | 1 | a Dominiczak, Anna F.4 aut |
710 | 2 | a Kardiovaskulär forskning - hypertonib Forskargrupper vid Lunds universitet4 org |
773 | 0 | t PLoS Geneticsd : Public Library of Science (PLoS)g 6:10q 6:10x 1553-7404 |
856 | 4 | u https://portal.research.lu.se/files/2256047/1762680.pdfx primaryx freey FULLTEXT |
856 | 4 | u http://dx.doi.org/10.1371/journal.pgen.1001177x freey FULLTEXT |
856 | 4 | u https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1001177&type=printable |
856 | 4 8 | u https://lup.lub.lu.se/record/1752786 |
856 | 4 8 | u https://doi.org/10.1371/journal.pgen.1001177 |
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