rs1057898

This PhD thesis investigated pharmacogenetics of microRNAs and immune system genes in locally advanced rectal cancer (LARC) patients treated with neoadjuvant chemoradiotherapy. In 265 LARC patients, five SNPs were identified as predictive biomarkers of pathological response: DROSHA-rs10719 (OR=1.87, p=0.0274) and SMAD3-rs17228212 (OR=2.01, p=0.0049) were unfavorable, while SMAD3-rs744910 (OR=0.45, p=0.0153), SMAD3-rs745103 (OR=0.48, p=0.0471), and TRBP-rs6088619 (OR=0.39, p=0.0125) were protective. In 235 LARC patients, three prognostic biomarkers for 2-year disease-free survival were identified: IL17F-rs641701 (HR=3.23, p=0.003), IL17F-rs9463772 (HR=2.89, p=0.002), and STAT3-rs8069645 (HR=0.50, p=0.044).

This case-control genetic association study investigated 15 SNPs of the SMAD5 gene in 105 Korean Kawasaki disease patients and 303 healthy controls. SNP rs3206634 was significantly associated with Kawasaki disease susceptibility in a recessive model with odds ratio = 2.31 (95% CI 1.12-4.76, p = 0.019), where the minor C allele increased disease risk. However, none of the 15 SMAD5 SNPs were associated with the development of coronary artery lesions in Kawasaki disease patients.