1. ¹Genes and Disease Program, and CeGen Barcelona Genotyping Node, Center for Genomic Regulation (CRG), Barcelona, Spain
2. ²Mood Disorders Clinical and Research Unit, Psychiatry Department, Hospital Universitari de Bellvitge, Feixa Llarga s/n, L'Hospitalet de Llobregat, Barcelona, Spain
3. ³Department of Life Sciences, Pompeu Fabra University, Barcelona, Spain

Correspondence: Dr X Estivill, Genes and Disease Program, Center for Genomic Regulation, Passeig Maritim 37-49, Barcelona 08003, Spain. E-mail: xavier.estivill@crg.es

⁴These authors contributed equally to this work.

Received 7 August 2006; Revised 8 April 2007; Accepted 10 April 2007; Published online 15 May 2007.

Abstract

Brain-derived neurotrophic factor (BDNF) has been studied extensively in relation to the susceptibility to mood disorders (MD), although it remains to be clarified whether BDNF is a susceptibility locus for MD phenotypes, including therapeutic response to antidepressants. We have performed a single-marker and haplotype association study of eight TagSNPs polymorphisms in the genomic region containing the BDNF gene in 342 control subjects and 374 patients with MD, and have tested the association with antidepressant treatment outcome. None of the eight single nucleotide polymorphisms (TagSNPs) was significantly associated with MD phenotype after Bonferroni correction. In the single-marker analysis, a SNP was found to be associated with the patient's state of 'remitter' after adequate trial with a single antidepressant phenotype (odds ratio (OR)=2.95; P=0.0025). We also identified a haplotype associated with this phenotype. This study supports the implication of BDNF in antidepressant treatment outcome in MD, with specific association with 5' upstream region of BDNF gene.