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    Am J Hum Genet. 2003 Aug;73(2):370-6. Epub 2003 Jun 27.

    Sequence variants of the brain-derived neurotrophic factor (BDNF) gene are strongly associated with obsessive-compulsive disorder.

    Hall D, Dhilla A, Charalambous A, Gogos JA, Karayiorgou M.

    The Rockefeller University, Human Neurogenetics Laboratory, New York, NY, 10021, USA.

    We evaluated a possible association between the brain-derived neurotrophic factor (BDNF) gene and susceptibility to obsessive-compulsive disorder (OCD) by genotyping a number of single-nucleotide polymorphisms (SNPs) and one microsatellite marker from the extended BDNF locus in 164 triads with OCD. Extensive background linkage disequilibrium was observed at this locus. Single-locus transmission-distortion tests revealed significant evidence of association with the disease for all the BDNF gene markers tested, including a Val66Met variation affecting the sequence of the proBDNF protein. Analysis of multi-SNP haplotypes provided similar results. Haplotype transmission comparisons in this and previous studies point to a functionally distinct BDNF haplotype uniquely marked by the rare Met66 allele, which is undertransmitted and likely confers a protective effect in OCD and other psychiatric disorders.

    PMID: 12836135 [PubMed - indexed for MEDLINE]

    PMCID: 1180373

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