Genome-wide association study of bladder cancer in a Chinese cohort reveals a new susceptibility locus at 5q12.3
Menée en Chine sur une cohorte comprenant 3 406 cas de cancer de la vessie et 4 645 témoins, cette étude d'association sur le génome entier identifie un nouveau locus de susceptibilité à la maladie sur la région chromosomique 5q12.3
Genome-wide association studies (GWAS) of bladder cancer have identified a number of susceptibility loci in European populations, but have yet to uncover the genetic determinants underlying bladder cancer incidence among other ethnicities. Therefore, we performed the first GWAS in a Chinese cohort comprising 3,406 cases of bladder cancer and 4,645 controls. We identified a new susceptibility locus for bladder cancer at 5q12.3, located in the intron of CWC27 (rs2042329), that was significantly associated with disease risk (odds ratio = 1.40, P = 4.61 × 10-11). However, rs2042329 was not associated with bladder cancer risk in patients of European descent. The rs2042329 risk allele was also related to significantly increased expression levels of CWC27 mRNA and protein in bladder cancer tissues from Chinese patients. Additional functional analyses suggested that CWC27 plays an oncogenic role in bladder cancer by inducing cell proliferation and suppressing apoptosis. In conclusion, the identification of a risk-associated locus at 5q12.3 provides new insights into the inherited susceptibility to bladder cancer in Chinese populations and may help to identify high-risk individuals.