About: Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

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About: Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3 Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://www.nature.com/ng/journal/v43/n1/full/ng.723.html
Description	We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r(2) = 0.99 in controls), rs11894252 (P = 1.8 x 10(-8)) and rs7579899 (P = 2.3 x 10(-9)), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 x 10(-14)). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 x 10(-8)). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights. We conducted a two-stage genome-wide association study of renal cell carcinoma (RCC) in 3,772 affected individuals (cases) and 8,505 controls of European background from 11 studies and followed up 6 SNPs in 3 replication studies of 2,198 cases and 4,918 controls. Two loci on the regions of 2p21 and 11q13.3 were associated with RCC susceptibility below genome-wide significance. Two correlated variants (r(2) = 0.99 in controls), rs11894252 (P = 1.8 x 10(-8)) and rs7579899 (P = 2.3 x 10(-9)), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC. The second locus, rs7105934, at 11q13.3, contains no characterized genes (P = 7.8 x 10(-14)). In addition, we observed a promising association on 12q24.31 for rs4765623, which maps to SCARB1, the scavenger receptor class B, member 1 gene (P = 2.6 x 10(-8)). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights. (en)
Title	Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3 Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3 (en)
skos:prefLabel	Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3 Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3 (en)
skos:notation	RIV/00209805:_____/11:#0000170!RIV12-MZ0-00209805
http://linked.open...avai/riv/aktivita	I N V
http://linked.open...avai/riv/aktivity	I, N, V
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Foretová, Lenka
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykův onkologický ústav
http://linked.open...dnocenehoVysledku	201044
http://linked.open...ai/riv/idVysledku	RIV/00209805:_____/11:#0000170
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	density-lipoprotein HDL; kidney cancer; prostate cancer; family history; pancreatic-cancer; breast-cancer; risk; transcription; epidemiology; cholesterol (en)
http://linked.open.../riv/klicoveSlovo	breast-cancer density-lipoprotein HDL cholesterol epidemiology kidney cancer pancreatic-cancer prostate cancer risk transcription family history
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[DEA3435EBD4F]
http://linked.open...i/riv/nazevZdroje	Nature genetics
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	104 (xsd:int)
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	43
http://linked.open...iv/tvurceVysledku	Foretová, Lenka Chanock, Stephen J.
http://linked.open...ain/vavai/riv/wos	000285683500017
issn	1061-4036
number of pages	8 (xsd:int)
http://bibframe.org/vocab/doi	10.1038/ng.723

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