rs61750900

This case-control study of over 1,800 Caucasian subjects examined genetic variation in UGT1A and UGT2B genes for colorectal cancer (CRC) risk. UGT1A haplotypes were significantly associated with CRC risk: the T-G haplotype in UGT1A10 (rs17864678, rs10929251) decreased proximal and distal colon cancer risk (OR = 0.28-0.32), while the C-T-G haplotype in the UGT1A shared exons (rs7578153, rs10203853, rs6728940) increased CRC risk in males (OR = 2.56). In UGT2B15, a haplotype containing the functional variant rs4148269 (K523T, c.C1568A) and rs6837575 increased rectal cancer risk (OR = 2.57 overall, OR = 3.08 in females). An interaction between high NSAID use and the UGT1A A-G-T haplotype (rs6717546, rs1500482, rs7586006) decreased CRC risk.

This proof-of-concept study examined polygenetic risk scores (PRS) in 91 clozapine-treated schizophrenia patients with obsessive-compulsive symptoms/disorder (OCS/OCD). OCS prevalence was 39.6% and OCD prevalence was 27.5%. A significant correlation was found between OCD occurrence and PRS for CLZ metabolism (p=0.010 at pd=0.001), though this did not survive multiple testing correction. OCS severity positively correlated with clozapine treatment duration and PANSS general psychopathology subscale scores, but no associations were found with PRS for OCD, schizophrenia, or cross-disorder phenotypes.