Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data

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Fältnamn	Indikatorer	Metadata
000		06457naa a2201141 4500
001		oai:DiVA.org:uu-124217
003		SwePub
008		100503s2009 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:119009663
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-1242172 URI
024	7	a https://doi.org/10.1001/jama.2009.978-a2 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1190096632 URI
040		a (SwePub)uud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Vasan, Ramachandran S4 aut
245	1 0	a Genetic variants associated with cardiac structure and function :b a meta-analysis and replication of genome-wide association data
264	1	b American Medical Association (AMA),c 2009
338		a print2 rdacarrier
520		a CONTEXT: Echocardiographic measures of left ventricular (LV) structure and function are heritable phenotypes of cardiovascular disease. OBJECTIVE: To identify common genetic variants associated with cardiac structure and function by conducting a meta-analysis of genome-wide association data in 5 population-based cohort studies (stage 1) with replication (stage 2) in 2 other community-based samples. DESIGN, SETTING, AND PARTICIPANTS: Within each of 5 community-based cohorts comprising the EchoGen consortium (stage 1; n = 12 612 individuals of European ancestry; 55% women, aged 26-95 years; examinations between 1978-2008), we estimated the association between approximately 2.5 million single-nucleotide polymorphisms (SNPs; imputed to the HapMap CEU panel) and echocardiographic traits. In stage 2, SNPs significantly associated with traits in stage 1 were tested for association in 2 other cohorts (n = 4094 people of European ancestry). Using a prespecified P value threshold of 5 x 10(-7) to indicate genome-wide significance, we performed an inverse variance-weighted fixed-effects meta-analysis of genome-wide association data from each cohort. MAIN OUTCOME MEASURES: Echocardiographic traits: LV mass, internal dimensions, wall thickness, systolic dysfunction, aortic root, and left atrial size. RESULTS: In stage 1, 16 genetic loci were associated with 5 echocardiographic traits: 1 each with LV internal dimensions and systolic dysfunction, 3 each with LV mass and wall thickness, and 8 with aortic root size. In stage 2, 5 loci replicated (6q22 locus associated with LV diastolic dimensions, explaining <1% of trait variance; 5q23, 12p12, 12q14, and 17p13 associated with aortic root size, explaining 1%-3% of trait variance). CONCLUSIONS: We identified 5 genetic loci harboring common variants that were associated with variation in LV diastolic dimensions and aortic root size, but such findings explained a very small proportion of variance. Further studies are required to replicate these findings, identify the causal variants at or near these loci, characterize their functional significance, and determine whether they are related to overt cardiovascular disease.
653		a MEDICINE
653		a MEDICIN
700	1	a Glazer, Nicole L.4 aut
700	1	a Felix, Janine F.4 aut
700	1	a Lieb, Wolfgang4 aut
700	1	a Wild, Philipp S.4 aut
700	1	a Felix, Stephan B.4 aut
700	1	a Watzinger, Norbert4 aut
700	1	a Larson, Martin G.4 aut
700	1	a Smith, Nicholas L.4 aut
700	1	a Dehghan, Abbas4 aut
700	1	a Grosshennig, Anika4 aut
700	1	a Schillert, Arne4 aut
700	1	a Teumer, Alexander4 aut
700	1	a Schmidt, Reinhold4 aut
700	1	a Kathiresan, Sekar4 aut
700	1	a Lumley, Thomas4 aut
700	1	a Aulchenko, Yurii S.4 aut
700	1	a König, Inke R.4 aut
700	1	a Zeller, Tanja4 aut
700	1	a Homuth, Georg4 aut
700	1	a Struchalin, Maksim4 aut
700	1	a Aragam, Jayashri4 aut
700	1	a Bis, Joshua C.4 aut
700	1	a Rivadeneira, Fernando4 aut
700	1	a Erdmann, Jeanette4 aut
700	1	a Schnabel, Renate B.4 aut
700	1	a Dörr, Marcus4 aut
700	1	a Zweiker, Robert4 aut
700	1	a Lind, Larsu Uppsala universitet,Medicin,Akutsjukvården4 aut0 (Swepub:uu)larslind
700	1	a Rodeheffer, Richard J.u Uppsala universitet,Institutionen för medicinska vetenskaper4 aut
700	1	a Greiser, Karin Halina4 aut
700	1	a Levy, Daniel4 aut
700	1	a Haritunians, Talin4 aut
700	1	a Deckers, Jaap W.4 aut
700	1	a Stritzke, Jan4 aut
700	1	a Lackner, Karl J.4 aut
700	1	a Völker, Uwe4 aut
700	1	a Ingelsson, Eriku Karolinska Institutet,Uppsala universitet,Geriatrik4 aut0 (Swepub:uu)ering425
700	1	a Kullo, Iftikhar4 aut
700	1	a Haerting, Johannes4 aut
700	1	a O'Donnell, Christopher J.4 aut
700	1	a Heckbert, Susan R.4 aut
700	1	a Stricker, Bruno H.4 aut
700	1	a Ziegler, Andreas4 aut
700	1	a Reffelmann, Thorsten4 aut
700	1	a Redfield, Margaret M.4 aut
700	1	a Werdan, Karl4 aut
700	1	a Mitchell, Gary F.4 aut
700	1	a Rice, Kenneth4 aut
700	1	a Arnett, Donna K.4 aut
700	1	a Hofman, Albert4 aut
700	1	a Gottdiener, John S.4 aut
700	1	a Uitterlinden, Andre G.4 aut
700	1	a Meitinger, Thomas4 aut
700	1	a Blettner, Maria4 aut
700	1	a Friedrich, Nele4 aut
700	1	a Wang, Thomas J.4 aut
700	1	a Psaty, Bruce M.4 aut
700	1	a van Duijn, Cornelia M.4 aut
700	1	a Wichmann, H-Erich4 aut
700	1	a Munzel, Thomas F.4 aut
700	1	a Kroemer, Heyo K.4 aut
700	1	a Benjamin, Emelia J.4 aut
700	1	a Rotter, Jerome I.4 aut
700	1	a Witteman, Jacqueline C.4 aut
700	1	a Schunkert, Heribert4 aut
700	1	a Schmidt, Helena4 aut
700	1	a Völzke, Henry4 aut
700	1	a Blankenberg, Stefan4 aut
710	2	a Uppsala universitetb Medicin4 org
773	0	t Journal of the American Medical Association (JAMA)d : American Medical Association (AMA)g 302:2, s. 168-178q 302:2<168-178x 0098-7484x 1538-3598
856	4	u https://jamanetwork.com/journals/jama/articlepdf/184228/joc90060_168_178.pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-124217
856	4 8	u https://doi.org/10.1001/jama.2009.978-a
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:119009663

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Av författaren/redakt...: Vasan, Ramachand ...; Glazer, Nicole L ...; Felix, Janine F.; Lieb, Wolfgang; Wild, Philipp S.; Felix, Stephan B ...; visa fler...; Watzinger, Norbe ...; Larson, Martin G ...; Smith, Nicholas ...; Dehghan, Abbas; Grosshennig, Ani ...; Schillert, Arne; Teumer, Alexande ...; Schmidt, Reinhol ...; Kathiresan, Seka ...; Lumley, Thomas; Aulchenko, Yurii ...; König, Inke R.; Zeller, Tanja; Homuth, Georg; Struchalin, Maks ...; Aragam, Jayashri; Bis, Joshua C.; Rivadeneira, Fer ...; Erdmann, Jeanett ...; Schnabel, Renate ...; Dörr, Marcus; Zweiker, Robert; Lind, Lars; Rodeheffer, Rich ...; Greiser, Karin H ...; Levy, Daniel; Haritunians, Tal ...; Deckers, Jaap W.; Stritzke, Jan; Lackner, Karl J.; Völker, Uwe; Ingelsson, Erik; Kullo, Iftikhar; Haerting, Johann ...; O'Donnell, Chris ...; Heckbert, Susan ...; Stricker, Bruno ...; Ziegler, Andreas; Reffelmann, Thor ...; Redfield, Margar ...; Werdan, Karl; Mitchell, Gary F ...; Rice, Kenneth; Arnett, Donna K.; Hofman, Albert; Gottdiener, John ...; Uitterlinden, An ...; Meitinger, Thoma ...; Blettner, Maria; Friedrich, Nele; Wang, Thomas J.; Psaty, Bruce M.; van Duijn, Corne ...; Wichmann, H-Eric ...; Munzel, Thomas F ...; Kroemer, Heyo K.; Benjamin, Emelia ...; Rotter, Jerome I ...; Witteman, Jacque ...; Schunkert, Herib ...; Schmidt, Helena; Völzke, Henry; Blankenberg, Ste ...; visa färre...

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