Association between Val108/158 Met polymorphism of the COMT gene and schizophrenia.
Schizophrenia is a complex disorder with a multifactorial polygenic inheritance with several genes conferring susceptibility at many genetic locations, each with a small effect. An attractive candidate gene for schizophrenia is the catechol-O-methyltransferase (COMT) gene, which is a modulator of dorsolateral prefrontal cortical function. A missense G to A mutation in this gene that results in a substitution of Methionine (Met) for Valine (Val) at codon 108/158 (Val(108/158) Met) has recently been identified in association to schizophrenia. We compared allele frequencies of the variant Val allele between 96 schizophrenia cases and 80 normal controls. We selected controls from a similar pool to cases in ethnicity and gender. The frequency of the Val allele was significantly higher in schizophrenia cases compared to controls (0.620 vs. 0.506; P = 0.043). Calculation of the population attributable risk suggests that the Val allele accounts for as much as 23% of schizophrenia in this population (range: 3-38%). These results provide support for a role of this variant in the etiopathophysiology of schizophrenia.
Wonodi
Ikwunga
I
Maryland Psychiatric Research Center, University of Maryland School of Medicine, Baltimore, Maryland 21228, USA.
Stine
O Colin
OC
Mitchell
Braxton D
BD
Buchanan
Robert W
RW
Thaker
Gunvant K
GK
D000328:Adult; D019943:Amino Acid Substitution; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D003062:Codon; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D012559:Schizophrenia / Q000209:etiology / Q000235:genetics*; D014633:Valine / Q000235:genetics*
D003062:Codon; D008715:Methionine; D002394:Catechol O-Methyltransferase; D014633:Valine