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25/10/2010 - Press release

A multi-stage genome-wide association study of bladder cancer identifies several new susceptibility loci

The study was published in the journal Nature Genetics

Press release from Spanish National Cancer Research Centre (CNIO)

Bladder cancer is a costly health problem in the Western world and it is a paradigm for gene-environment interactions. In Spain, bladder cancer ranks fourth, among men, in cancer incidence.

A large collaborative multi-stage (pooled and meta-analysis) genome-wide association study (GWAS) led by the US National Cancer NCI and based on the Spanish Bladder Cancer (SBCS) / EPICURO Study has identified several new genetic variants associated with bladder cancer risk and validated recently reported variants. Overall, the joint effort involved 65 institutions from 13 countries, with a total of 21 studies and 11,913 cases and 53,395 controls.

The SBCS / EPICURO Study, one of the pillars of this work, is jointly coordinated by the Genetic and Molecular Epidemiology and the Epithelial Carcinogenesis Groups at the Spanish National Cancer Research Centre (CNIO), Madrid, and the Centre de Recerca en Epidemiologia Ambiental (CREAL) / IMIM (Hospital del Mar Research Institute), Barcelona, together with the US NCI. This is a large multicentre case-control study conducted between 1998-2001 in 18 hospitals from Catalunya, Asturias, Tenerife, and Elche. A total of 1300 cases and 1300 controls participated.

The SBCS/EPICURO study has already provided important leads about the role of genetic variation, and environmental factors, in bladder cancer. In this genome wide analysis, the primary scan included 589,299 SNPs in 3,532 cases and 5,120 controls of European background; this was followed by a two-stage replication strategy, which included an additional 8,381 cases and 48,275 controls (16 studies).

In a combined analysis, three new regions associated with bladder cancer were identified. The strongest SNP marker, rs1014971, (Pvalue=8x10-12) maps to a non-genic region of chromosome 22q13; rs8102137 (Pvalue =2x10-11) on 19q12 maps to CCNE1; and rs11892031 (Pvalue =1x10-7) maps to the UGT1A cluster on 2q37.

Furthermore, the study confirmed four previously reported GWAS associations on chromosomes 3q28, 4p16.3, 8q24.21 and 8q24.3, validated previous candidate associations for the GSTM1 deletion (Pvalue =4x10-11) and a tag SNP for NAT2 acetylation status (Pvalue =4x10-11), and demonstrated smoking interactions with both regions.

These findings on common variants associated with bladder cancer risk represent a further step in delineating the genetic susceptibility scenario of this “complex” disease, add new insights into mechanisms of bladder carcinogenesis, and may provide the basis of potential public health interventions.

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