Premium
Gender‐specific COMT Val158Met polymorphism association in Spanish schizophrenic patients
Author(s) -
Hoenicka Janet,
Garrido Elena,
Martínez Isabel,
Ponce Guillermo,
Aragüés María,
RodríguezJiménez Roberto,
EspañaSerrano Laura,
AlviraBotero Ximena,
Santos José Luis,
Rubio Gabriel,
JiménezArriero Miguel Ángel,
Palomo Tomás
Publication year - 2010
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30957
Subject(s) - rs4680 , catechol o methyl transferase , genotype , snp , haplotype , psychosis , odds ratio , medicine , schizophrenia (object oriented programming) , polymorphism (computer science) , genetics , genetic association , single nucleotide polymorphism , biology , endocrinology , psychiatry , gene
The functional Val158Met polymorphism (rs4680) located at the gene that codes for the catechol‐ O ‐methyltransferase ( COMT ) has been extensively investigated in schizophrenia although current data are still controversial. Since COMT activity is sexually dimorphic, we carried out two independent studies in homogeneous samples of male and female Spanish schizophrenic patients. In males, we found an association between the homozygous Val genotype and the disorder, which resembled a recessive model ( P = 0.022; odds ratio [OR] = 1.67). This Val homozygotes overrepresentation is produced at the expense of the heterozygous individuals decrease, whilst the Met homozygotes showed no differences when compared controls and patients. As a consequence, the heterozygous genotype in this sample had a protective effect ( P = 0.03; OR = 0.65) and a strong deviation from Hardy–Weinberg equilibrium in male cases was observed ( P = 0.006). In addition, a 2‐SNP haplotype analysis (rs4818‐Val158Met) confirmed there is an overrepresentation of the different homozygous Val genotypes in the male schizophrenic sample. Regarding females, we did not find any statistically significant association between COMT SNP and schizophrenia. In the light of this we suggest that the Val158Met SNP is involved in risk and protective genotypes for the vulnerability to schizophrenia in Spanish male population. © 2009 Wiley‐Liss, Inc.