A case-control association study of COMT rs4680 Polymorphism with Obsessive-Compulsive Disorder and Cognitive Functions: The role of sex

Abstract Background Previous studies have emphasized the role of genetic components in obsessive-compulsive disorder (OCD) and cognitive functions. One of the most controversial markers in this area is the COMT rs4680 polymorphism. In the present study, we aimed to investigate the effect of rs4680 on susceptibility to OCD and cognitive functions with respect to the moderating role of sex. Methods The subjects included 127 patients with OCD and 145 healthy controls. Genotyping was carried out by ARMS-PCR. The subjects underwent cognitive evaluations using the Wechsler Memory Scale-III. Data were analyzed using SPSS 22 and R package software. Results The results showed a significantly higher frequency of the AA genotype in the OCD group than in the healthy control group. Cognitive assessments showed weaker Immediate Memory and General Memory performance in the patients with OCD than in the control group. No significant association was found between rs4680 and memory dimensions in the total sample, whereas analysis by sex revealed a significant association of rs4680 with Working Memory only in females. Conclusions The results of this study confirm previous findings about the association of the AA genotype with OCD. These findings also corroborate previous assumptions about impaired episodic memory in patients with OCD. Moreover, the association of rs4680 with Working Memory only in females endorses the hypothesis of the sexual dimorphism of the effects of this COMT gene polymorphism.