Common variants at 8q24 confer susceptibility to urothelial bladder cancer in the pakistani population

8q24 has recently received much attention after genome-wide studies identified the association of common sequence variants in the 8q24.21 gene desert as well as a 5'utr polymorphism of the psca gene with individual susceptibility to urinary bladder cancer (ubc). the objective of the present study was to determine the association of selected single nucleotide polymorphisms (snps) at the 8q24 locus (rs9642880 and rs6983267 at 8q24.21 and rs2294008 near the prostate stem cell antigen [psca]) with urothelial bladder cancer (ubc) among the pakistani population. for this purpose,genotyping of selected snps was performed by simple allele-discriminating polymerase chain reaction (pcr) in 200 ubc cases and 200 healthy controls. all three variants were found to be associated with a significantly increased ubc risk (p<0.05) after adjusting for age,gender and smoking. rs9642880 was found to be associated slightly stronger with low grade as compared to high grade ubc,while rs2294008 was associated with increased risk of high grade and invasive stages of the disease,and rs6983267 exhibited a strong positive association with ubc risk irrespective of tumor stage and grade. in conclusion,the current study shows a significant involvement of the 8q24 locus in ubc etiology in pakistani patients. © 2013 zoological society of pakistan.