rs5031015

This association study examines COMT polymorphisms and cocaine-induced paranoia (CIP) in European-American and African-American populations. The nonsynonymous Val158Met variant (rs4680) and three additional SNPs (rs933271, rs5993883, rs740603) were identified as potentially functional. Family-based and case-control analyses revealed significant haplotype associations with CIP, particularly haplotype A-A-T in both European-American families and unrelated African-American individuals, supporting COMT's role in dopamine/norepinephrine metabolism affecting cocaine-induced psychiatric symptoms.

This case-control study examined COMT gene polymorphisms in 150 endometrial cancer patients and 165 controls, identifying that the COMT codon 62 T/T genotype (rs4633) is associated with increased endometrial cancer risk (OR=2.39, 95% CI: 1.31-4.37, P=0.004). The protective C-G haplotype of codons 62 and 158 was significantly more frequent in controls (P<0.0001), and immunohistochemistry showed that polymorphic variants led to lower COMT protein expression in cancer tissues.

A case-control study of 320 Korean schizophrenic patients and 379 controls found that the rs6267 (Ala72Ser) polymorphism in the COMT gene is associated with increased schizophrenia risk (adjusted OR=1.82, 95% CI=1.19-2.76; P=0.005), with a stronger effect in females (OR=1.93; P=0.018). The 72Ser allele was correlated with reduced COMT enzyme activity in red blood cells. In contrast, the commonly studied Val158Met polymorphism (rs4680) showed no significant association with schizophrenia in this Korean population.