Association analysis of COMT polymorphisms and Schizophrenia in a Cuban family sample. Preliminary results

Abstract

Schizophrenia is a complex disease affecting as much as 1% of the global population, constituting the target of considerable effort to identify disease susceptibility genes. Several lines of evidence point to the catechol-O-methyltransferase (COMT) gene as a schizophrenia susceptibility candidate, not only because it encodes a key dopamine catabolic enzyme but also because it maps to the velocardiofacial syndrome region of chromosome 22q11, which has long been associated with predisposition to the disease. Several case-control and family-based studies have been conducted to examine the possible association of COMT with this disorder; however, these studies have produced conflicting results. To further assess the genetic contribution of COMT variants to schizophrenia susceptibility, three single-nucleotide polymorphisms (rs2075507, rs4680 and rs362204) were investigated in a sample of 74 family trios from the Cuban population. Restriction fragment length polymorphism was used to identify the allelic variants, employing statistical tools based on transmission disequilibrium tests to find possible associations. In this study, the first of its type performed in the Cuban population, we found an association of rs2075507 and rs362204 at allelic levels with a p < 0.05; also finding an association of haplotype 1-2-1 with the disease.

Keywords

• candidate genes
• single nucleotide polymorphism (SNP)
• family-based association study
• family trios