title: Association study of the estrogen receptor alpha gene (ESR1) and childhood-onset mood disorders.
abstract: Depressive disorders are heterogeneous psychiatric disorders involving deficits in cognitive, psychomotor, and emotional processing. Depressive disorders have a significant genetic component, with severe, recurrent and early-onset forms demonstrating elevated heritability. In this study we genotyped eleven single nucleotide polymorphisms (SNPs) spanning the estrogen receptor alpha gene (ESR1) in a large family-based childhood-onset mood disorder (COMD) sample. None of the individual SNP or global haplotype analyses was significant in the entire COMD sample, but haplotype analysis of three SNPs in strong linkage disequilibrium (rs746432, rs2077647, and rs532010) uncovered an association with COMD, specifically in females. Our data are consistent with previous studies demonstrating a female-specific association between ESR1 and neurobehavioral phenotypes. These results suggest the existence of sex-specific etiological factors in depressive disorders, related to estrogen, with onset in childhood.
authors.affiliation: Toronto Western Research Institute, University Health Network, Toronto, Ontario, Canada.
authors.forename: Jonathan
authors.initials: J
authors.lastname: Mill
authors.forename: Eniko
authors.initials: E
authors.lastname: Kiss
authors.forename: Ildiko
authors.initials: I
authors.lastname: Baji
authors.forename: Krisztina
authors.initials: K
authors.lastname: Kapornai
authors.forename: Gabriella
authors.initials: G
authors.lastname: Daróczy
authors.forename: Agnes
authors.initials: A
authors.lastname: Vetró
authors.forename: James
authors.initials: J
authors.lastname: Kennedy
authors.forename: Maria
authors.initials: M
authors.lastname: Kovacs
authors.forename: Cathy
authors.initials: C
authors.lastname: Barr
mesh_terms: D017668:Age of Onset; D002648:Child; D003863:Depression / Q000235:genetics; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D019964:Mood Disorders / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012737:Sex Factors
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha