rs4488809

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 association study examined two TP63 SNPs (rs10937405 and rs4488809) in 3,467 never-smoking female lung cancer cases and 3,787 controls from ten Asian studies. The T allele of rs10937405 was significantly associated with lung adenocarcinoma risk (p = 7.1 × 10⁻⁸, allelic risk OR = 0.80, 95% CI = 0.74–0.87). The finding was replicated and strengthened in this larger Asian female population compared to previous GWAS.

This cross-sectional study of 288 coke oven workers examined gene-environment interactions between FEN1 rs174538 polymorphism and polycyclic aromatic hydrocarbon (PAH) exposure, measured by urinary 1-OH-pyrene levels, on DNA damage in EGFR gene exons 19 and 21. The study found significant linear associations between PAH exposure and EGFR exon damage (P trend < 0.001 for both exons), which were modified by FEN1 rs174538 genotype—the associations were significant only in GA+AA carriers (P < 0.001) but not in GG carriers, suggesting genetic susceptibility influences PAH-induced DNA damage.