Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension

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Fältnamn	Indikatorer	Metadata
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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Av författaren/redakt...: Padmanabhan, San ...; Melander, Olle; Johnson, Toby; Di Blasio, Anna ...; Lee, Wai K.; Gentilini, David ...; visa fler...; Hastie, Claire E ...; Menni, Cristina; Monti, Maria Cri ...; Delles, Christia ...; Laing, Stewart; Corso, Barbara; Navis, Gerjan; Kwakernaak, Arja ...; van der Harst, P ...; Bochud, Murielle; Maillard, Marc; Burnier, Michel; Hedner, Thomas; Kjeldsen, Sverre; Wahlstrand, Bjor ...; Sjögren, Marketa; Fava, Cristiano; Montagnana, Mart ...; Danese, Elisa; Torffvit, Ole; Hedblad, Bo; Snieder, Harold; Connell, John M. ...; Brown, Morris; Samani, Nilesh J ...; Farrall, Martin; Cesana, Giancarl ...; Mancia, Giuseppe; Signorini, Stefa ...; Grassi, Guido; Eyheramendy, Sus ...; Wichmann, H. Eri ...; Laan, Maris; Strachan, David ...; Sever, Peter; Shields, Denis C ...; Stanton, Alice; Vollenweider, Pe ...; Teumer, Alexande ...; Voelzke, Henry; Rettig, Rainer; Newton-Cheh, Chr ...; Arora, Pankaj; Zhang, Feng; Soranzo, Nicole; Spector, Timothy ...; Lucas, Gavin; Kathiresan, Seka ...; Siscovick, David ...; Luan, Jian'an; Loos, Ruth J. F.; Wareham, Nichola ...; Penninx, Brenda ...; Nolte, Ilja M.; McBride, Martin; Miller, William ...; Nicklin, Stuart ...; Baker, Andrew H.; Graham, Delyth; McDonald, Robert ...; Pell, Jill P.; Sattar, Naveed; Welsh, Paul; Munroe, Patricia; Caulfield, Mark ...; Zanchetti, Alber ...; Dominiczak, Anna ...; visa färre...

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