Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome.

ABSTRACT:

Background

22q11.2 deletion syndrome (22q11.2DS) is the most common genetic syndrome associated with schizophrenia. The catechol-O-methyltransferase (COMT) gene is located in the obligatory deletion region, and possible associations between COMT variants and neuropsychiatric manifestations in 22q11.2DS have been reported. The purpose of the current study was to evaluate the effect of COMT hemizygosity and molecular haplotypes on gene expression and enzyme activity and its association with psychotic symptoms in 22q11.2DS.

Methods

Lymphoblast samples were drawn from 53 individuals with 22q11.2DS and 16 typically developing control subjects. We measured COMT messenger (m)RNA and protein expression and enzyme activity using standard procedures. The presence of a psychotic disord

SUBMITTER: Gothelf D 

PROVIDER: S-EPMC3872263 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature