rs6687758

This study analyzes 243 rectal cancer patients to determine if colorectal cancer (CRC) susceptibility SNPs are associated with rectal cancer prognosis. SNPs on 8q24 (rs6983267 near MYC), 18q21 (rs12953717, rs4464148 in SMAD7), and 20q13 (rs4925386 in LAMA5) are found to be associated with disease-free survival and overall survival in rectal cancer patients, with some alleles associated with better or worse prognosis despite their effects on CRC risk.

This case-control study in Japanese population evaluated CRC risk prediction models using SNPs identified in European and East Asian GWAS. An 11-SNP model combining 6 European-identified SNPs (rs6983267, rs4779584, rs4444235, rs9929218, rs10936599, rs16969681) with 5 East Asian-identified SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279) showed significantly improved discrimination capacity compared to a 6-SNP model alone (derivation AUC 0.6392 vs 0.6125, P=0.0039; replication AUC 0.5695 vs 0.5310, P=0.0018), with cumulative risk at age 80 estimated at 13% in high-risk versus 6% in low-risk genetic groups.

A study of 175 PSP (progressive supranuclear palsy) cases examining effects of GWAS-identified risk variants on brain gene expression, CpG methylation, and neuropathology. PSP risk SNPs rs8070723, rs242557, and rs1768208 were associated with altered brain levels of LRRC37A4, ARL17B, ARL17A, and MOBP. Meta-analysis confirmed highly significant associations for rs8070723 with LRRC37A4 and rs1768208 with MOBP. Risk alleles also associated with increased tau neuropathology including coiled bodies and tau threads, suggesting these variants influence PSP risk through effects on gene expression and tau pathology.