Association of VNTR Polymorphism of the AS3MT Gene with the Risk of Schizophrenia

The AS3MT gene encodes arsenic(III) methyltransferase. VNTR polymorphism of the AS3MT gene is characteristic only for the human genome. It is associated with the expression of a human-specific AS3MT d2d3 protein isoform, which is a potential risk factor for the development of schizophrenia. In this study, we have analyzed for the first time the distribution of frequencies of alleles and genotypes of VNTR polymorphism in a large sample of ethnic Russians. The association of VNTR with the risk of schizophrenia has been studied. This study included 1002 patients with schizophrenia and schizophrenia spectrum disorders and 1510 people of the control group. Women with the V3 / V3 genotype have an increased risk of schizophrenia (OR = 1.4, 95% CI: 1.11–1.77).