Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13. 3
MP Purdue, M Johansson, D Zelenika, JR Toro… - Nature …, 2011 - nature.com
MP Purdue, M Johansson, D Zelenika, JR Toro, G Scelo, LE Moore, E Prokhortchouk, X Wu…
Nature genetics, 2011•nature.comWe 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× 10− 8) and rs7579899 (P= 2.3× 10− 9), map to EPAS1 on 2p21, which …
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× 10− 8) and rs7579899 (P= 2.3× 10− 9), map to EPAS1 on 2p21, which …
Abstract
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 (r2 = 0.99 in controls), rs11894252 (P = 1.8 × 10−8) and rs7579899 (P = 2.3 × 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 × 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 × 10−8). Our study reports previously unidentified genomic regions associated with RCC risk that may lead to new etiological insights.
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