Change search
ReferencesLink to record
Permanent link

Direct link
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23
Show others and affiliations
2012 (English)In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 21, no 2, 456-462 p.Article in journal (Refereed) Published
Abstract [en]

Renal cell carcinoma (RCC) is the most lethal urologic cancer. Only two common susceptibility loci for RCC have been confirmed to date. To identify additional RCC common susceptibility loci, we conducted an independent genome- wide association study (GWAS). We analyzed 533 191 single nucleotide polymorphisms (SNPs) for association with RCC in 894 cases and 1516 controls of European descent recruited from MD Anderson Cancer Center in the primary scan, and validated the top 500 SNPs in silico in 3772 cases and 8505 controls of European descent involved in the only published GWAS of RCC. We identified two common variants in linkage disequilibrium, rs718314 and rs1049380 (r(2) = 0.64, D' = 0.84), in the inositol 1,4,5-triphosphate receptor, type 2 (ITPR2) gene on 12p11.23 as novel susceptibility loci for RCC (P = 8.89 x 10(-10) and P = 6.07 x 10(-9), respectively, in meta-analysis) with an allelic odds ratio of 1.19 [95% confidence interval (CI): 1.13-1.26] for rs718314 and 1.18 (95% CI: 1.12-1.25) for rs1049380. It has been recently identified that rs718314 in ITPR2 is associated with waist-hip ratio (WHR) phenotype. To our knowledge, this is the first genetic locus associated with both cancer risk and WHR.

Place, publisher, year, edition, pages
2012. Vol. 21, no 2, 456-462 p.
National Category
Urology and Nephrology Cancer and Oncology
URN: urn:nbn:se:umu:diva-51644DOI: 10.1093/hmg/ddr479ISI: 000298658300019PubMedID: 22010048OAI: diva2:489756
Available from: 2012-02-03 Created: 2012-01-31 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
Human Molecular Genetics
Urology and NephrologyCancer and Oncology

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: 60 hits
ReferencesLink to record
Permanent link

Direct link