title: Analyses of variants located in estrogen metabolism genes (ESR1, ESR2, COMT and APOE) and schizophrenia.
abstract: Relationships between gender, age-of-onset of schizophrenia and reproductive age strongly suggest a key role for gonadal hormones, and more specifically for estrogens, in the etiology of the illness. Also, estrogens act as neural growth and trophic factors influencing neuron and glial cells in many areas of the central nervous system. Therefore, we investigated the association between schizophrenia and 4 genes related to estrogen metabolism. These genes are ESR1 (estrogen receptor 1), ESR2 (estrogen receptor 2), APOE (apolipoprotein E) and COMT (catechol-O-methyltransferase). The expression of APOE and COMT, which contain estrogen response elements, have been demonstrated to be regulated by the estrogen receptors. In this current association study, we examined 59 single nucleotide polymorphisms (SNPs) located in the ESR1 (26), ESR2 (14), APOE (7) and COMT (12) loci. Allele frequencies were evaluated in the schizophrenia (n=585)-control (n=615) sample and no association was found with any of the four genes. In conclusion, our data suggest that the four analyzed genes do not play an important role in susceptibility to schizophrenia.
authors.affiliation: Hospital Psiquiàtric Universitari Institut Pere Mata, Ctra. De l'Institut Pere Mata s/n, 43206 Reus, Spain. lourdes.martorell@urv.cat
authors.forename: Lourdes
authors.initials: L
authors.lastname: Martorell
authors.forename: Javier
authors.initials: J
authors.lastname: Costas
authors.forename: Joaquín
authors.initials: J
authors.lastname: Valero
authors.forename: Alfonso
authors.initials: A
authors.lastname: Gutierrez-Zotes
authors.forename: Christopher
authors.initials: C
authors.lastname: Phillips
authors.forename: María
authors.initials: M
authors.lastname: Torres
authors.forename: Anna
authors.initials: A
authors.lastname: Brunet
authors.forename: Gemma
authors.initials: G
authors.lastname: Garrido
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.forename: Roser
authors.initials: R
authors.lastname: Guillamat
authors.forename: Vicenç
authors.initials: V
authors.lastname: Vallès
authors.forename: Miriam
authors.initials: M
authors.lastname: Guitart
authors.forename: Antonio
authors.initials: A
authors.lastname: Labad
authors.forename: Elisabet
authors.initials: E
authors.lastname: Vilella
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics*; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D002874:Chromosome Mapping / Q000706:statistics & numerical data; D035061:Control Groups; D047628:Estrogen Receptor alpha / Q000235:genetics*; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors; D012559:Schizophrenia / Q000235:genetics*; D012737:Sex Factors
chemical_list: D001057:Apolipoproteins E; C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta; D002394:Catechol O-Methyltransferase