Genome-wide association study identifies multiple loci associated with bladder cancer risk.

Journal article

Candidate gene and genome-wide association studies (GWAS) have identified 11 independent susceptibility loci associated with bladder cancer risk. To discover additional risk variants, we conducted a new GWAS of 2422 bladder cancer cases and 5751 controls, followed by a meta-analysis with two independently published bladder cancer GWAS, resulting in a combined analysis of 6911 cases and 11 814 controls of European descent. TaqMan genotyping of 13 promising single nucleotide polymorphisms with P < 1 × 10(-5) was pursued in a follow-up set of 801 cases and 1307 controls. Two new loci achieved genome-wide statistical significance: rs10936599 on 3q26.2 (P = 4.53 × 10(-9)) and rs907611 on 11p15.5 (P = 4.11 × 10(-8)). Two notable loci were also identified that approached genome-wide statistical significance: rs6104690 on 20p12.2 (P = 7.13 × 10(-7)) and rs4510656 on 6p22.3 (P = 6.98 × 10(-7)); these require further studies for confirmation. In conclusion, our study has identified new susceptibility alleles for bladder cancer risk that require fine-mapping and laboratory investigation, which could further understanding into the biological underpinnings of bladder carcinogenesis.

Authors: Figueroa, J; Ye, Y; Siddiq, A; Garcia-Closas, M; Chatterjee, N

• Publication status: Published
• Journal: Human molecular genetics
• Volume: 23
• Issue: 5
• Pages: 1387-1398
• Publication date: 2014-03-01
• DOI: 10.1093/hmg/ddt519
• EISSN: 1460-2083
• ISSN: 0964-6906
• Language: English
• Keywords: Urinary Bladder Neoplasms; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Humans; Genome-Wide Association Study; Genetic Loci; Linkage Disequilibrium; Genotype; Risk; Meta-Analysis as Topic; Case-Control Studies