Change search
ReferencesLink to record
Permanent link

Direct link
Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3
International Agency for Research on Cancer (IARC), Lyon, France.
Show others and affiliations
2011 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 43, no 1, 60-65 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2011. Vol. 43, no 1, 60-65 p.
Keyword [en]
density-lipoprotein hdl; kidney cancer; prostate-cancer; family-history; pancreatic-cancer; breast-cancer; risk; transcription; epidemiology; cholesterol
National Category
Medical Genetics
URN: urn:nbn:se:umu:diva-42272DOI: 10.1038/ng.723PubMedID: 21131975OAI: diva2:409004
Available from: 2011-04-06 Created: 2011-04-06 Last updated: 2016-03-07Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Johansson, MattiasLjungberg, Börje
By organisation
Urology and Andrology
In the same journal
Nature Genetics
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 71 hits
ReferencesLink to record
Permanent link

Direct link