PMID- 12836135 OWN - NLM STAT- MEDLINE DCOM- 20030924 LR - 20200824 IS - 0002-9297 (Print) IS - 1537-6605 (Electronic) IS - 0002-9297 (Linking) VI - 73 IP - 2 DP - 2003 Aug TI - Sequence variants of the brain-derived neurotrophic factor (BDNF) gene are strongly associated with obsessive-compulsive disorder. PG - 370-6 AB - 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. FAU - Hall, Diana AU - Hall D AD - The Rockefeller University, Human Neurogenetics Laboratory, New York, NY, 10021, USA. FAU - Dhilla, Alefiya AU - Dhilla A FAU - Charalambous, Anna AU - Charalambous A FAU - Gogos, Joseph A AU - Gogos JA FAU - Karayiorgou, Maria AU - Karayiorgou M LA - eng GR - M01 RR000102/RR/NCRR NIH HHS/United States GR - M01 RR00102/RR/NCRR NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. DEP - 20030627 PL - United States TA - Am J Hum Genet JT - American journal of human genetics JID - 0370475 RN - 0 (Brain-Derived Neurotrophic Factor) RN - 0 (Protein Precursors) RN - 0 (brain-derived neurotrophic factor precursor) SB - IM MH - Adolescent MH - Adult MH - Age of Onset MH - Alleles MH - Brain-Derived Neurotrophic Factor/*genetics MH - Child MH - Exons MH - Female MH - *Genetic Variation MH - Genotype MH - Haplotypes MH - Humans MH - Introns MH - Linkage Disequilibrium MH - Male MH - Microsatellite Repeats MH - Obsessive-Compulsive Disorder/*genetics MH - Polymorphism, Single Nucleotide MH - Protein Precursors/genetics PMC - PMC1180373 EDAT- 2003/07/02 05:00 MHDA- 2003/09/25 05:00 PMCR- 2004/02/01 CRDT- 2003/07/02 05:00 PHST- 2003/01/15 00:00 [received] PHST- 2003/05/07 00:00 [accepted] PHST- 2003/07/02 05:00 [pubmed] PHST- 2003/09/25 05:00 [medline] PHST- 2003/07/02 05:00 [entrez] PHST- 2004/02/01 00:00 [pmc-release] AID - S0002-9297(07)61924-7 [pii] AID - 34877 [pii] AID - 10.1086/377003 [doi] PST - ppublish SO - Am J Hum Genet. 2003 Aug;73(2):370-6. doi: 10.1086/377003. Epub 2003 Jun 27.