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

TitleGenome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3.
Publication TypeJournal Article
Year of Publication2011
AuthorsPurdue MP, Johansson M, Zelenika D, Toro JR, Scelo G, Moore LE, Prokhortchouk E, Wu X, Kiemeney LA, Gaborieau V et al.
JournalNat Genet
Volume43
Issue1
Pagination60-5
Date Published2011 Jan
ISSN1546-1718
KeywordsCarcinoma, Renal Cell, Case-Control Studies, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 2, Genetic Predisposition to Disease, Genome, Human, Genome-Wide Association Study, Humans, Kidney Neoplasms, Polymorphism, Single Nucleotide, Risk Factors
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.

DOI10.1038/ng.723
Alternate JournalNat. Genet.
PubMed ID21131975