rs9642880

A three-stage fine mapping study of the 3q28 bladder cancer susceptibility locus identified rs35592567 in the 3'-UTR of TP63 as a functional causal variant. The T allele was significantly associated with decreased bladder cancer risk (OR=0.82, 95% CI=0.75-0.90, P=9.797×10⁻⁶). Functional studies showed the variant affects miR-140-5p binding, regulating TP63 post-transcriptional levels and affecting bladder cancer cell proliferation, migration, and invasion.

This case-control study of 231 bladder urothelial carcinoma (UC) patients and 261 benign controls found that rs9642880[T] and rs798766[T] variants increase bladder-UC risk (OR=1.72, p=0.028 and OR=1.84, p=0.01 respectively), but unlike upper tract UC, these variants are not associated with disease aggressiveness (grade or stage). The findings highlight distinct genetic differences between bladder-UC and upper urinary tract urothelial carcinoma.

This case-control study evaluated 157 tag SNPs in the 8q24 chromosomal region in relation to papillary thyroid cancer (PTC) risk using 344 PTC cases and 452 controls. While previously cancer-associated SNPs (rs1562430, rs1447295, rs6983267) showed no significant association with PTC, one SNP (rs4733616, P=0.003) and 12 others showed uncorrected P<0.05 associations; however, none remained significant after false discovery rate correction, suggesting no strong association between 8q24 variants and sporadic PTC risk.

This study confirmed the association of rs11892031[A] in the UGT1A locus with increased urinary bladder cancer risk through analysis of eight case-control series (1,805 cases, 2,141 controls) plus meta-analysis of published data (13,395 cases, 54,876 controls). The combined meta-analysis showed an odds ratio of 1.19 (95% CI = 1.12-1.26, P < 0.0001), with stronger effects in individuals with high occupational exposure to bladder carcinogens.

A case-control study of 1,425 bladder cancer cases and 1,740 controls confirmed that rs710521[A] on chromosome 3q28 near TP63 is significantly associated with increased urinary bladder cancer risk (OR = 1.21 in unadjusted analysis, P = 0.011; OR = 1.23 in multivariate analysis adjusted for age, gender, smoking, and ethnicity, P = 0.010). Meta-analysis of 5,695 cases and 40,187 controls yielded a highly significant association (OR = 1.18, P < 0.0001), though the effect size is modest. No interaction was found with smoking or occupational exposure to bladder carcinogens.

This case-control study of 596 prostate cancer cases and 567 controls tested 49 tagging SNPs in the 8q24 region for association with prostate cancer susceptibility and tumor aggressiveness in men of European ancestry. After multiple testing correction, four SNPs showed significant association with PC susceptibility (rs1016342, rs1378897, rs871135, rs6470517), while rs6470517 was significantly associated with aggressive tumor phenotypes (Gleason score and TNM staging, P = 10^-4 to 10^-5). Meta-analysis of rs1447295 showed a pooled odds ratio of 1.38 (95% CI: 1.30-1.46).