PMID- 16741941 OWN - NLM STAT- MEDLINE DCOM- 20060816 LR - 20200930 IS - 1552-4841 (Print) IS - 1552-4841 (Linking) VI - 141B IP - 5 DP - 2006 Jul 5 TI - Transmission distortion of BDNF variants to bipolar disorder type I patients from a South American population isolate. PG - 435-9 AB - Recent reports have implicated polymorphisms in the brain derived neurotrophic factor (BDNF) gene region in the etiology of several psychiatric phenotypes, including bipolar disorder. Significant disease association has been reported for the G allele at SNP rs6265, which encodes for Valine at position 66 of BDNF (Val66Met), an apparently functional variant of this key BDNF. Here we examined a sample of 224 bipolar type I patients and available parents (comprising a total of 212 nuclear families) ascertained in a South American population isolate (Antioquia, Colombia). We tested for transmission distortion to bipolar patients of alleles at the rs6265 polymorphism and at a microsatellite marker 1.3 kb away from this SNP. Significant excess transmission of the rs6265 G allele to cases was observed (chi(2) = 10.77, d.f. = 1, P = 0.001). Two-locus haplotype analysis showed a significant global transmission distortion (chi(2) = 16.059, d.f. = 7, P = 0.025) with an excess transmission of a haplotype comprising the rs6265 G allele and microsatellite allele 227. These results are consistent with previous studies pointing to a role for BDNF in susceptibility to mood disorders. CI - (c) 2006 Wiley-Liss, Inc. FAU - Kremeyer, Barbara AU - Kremeyer B AD - Galton Laboratory, Department of Biology, University College London, London, United Kingdom. FAU - Herzberg, Ibi AU - Herzberg I FAU - Garcia, Jenny AU - Garcia J FAU - Kerr, Emily AU - Kerr E FAU - Duque, Constanza AU - Duque C FAU - Parra, Vicky AU - Parra V FAU - Vega, Jorge AU - Vega J FAU - Lopez, Carlos AU - Lopez C FAU - Palacio, Carlos AU - Palacio C FAU - Bedoya, Gabriel AU - Bedoya G FAU - Ospina, Jorge AU - Ospina J FAU - Ruiz-Linares, Andres AU - Ruiz-Linares A LA - eng GR - 086052/Wellcome Trust/United Kingdom PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Am J Med Genet B Neuropsychiatr Genet JT - American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics JID - 101235742 RN - 0 (Brain-Derived Neurotrophic Factor) SB - IM MH - Alleles MH - Bipolar Disorder/*genetics MH - Brain-Derived Neurotrophic Factor/*genetics MH - Colombia MH - Dinucleotide Repeats/genetics MH - Family Health MH - Female MH - Gene Frequency MH - Haplotypes MH - Humans MH - Linkage Disequilibrium MH - Male MH - Mutation, Missense MH - Nuclear Family MH - *Polymorphism, Single Nucleotide EDAT- 2006/06/03 09:00 MHDA- 2006/08/17 09:00 CRDT- 2006/06/03 09:00 PHST- 2006/06/03 09:00 [pubmed] PHST- 2006/08/17 09:00 [medline] PHST- 2006/06/03 09:00 [entrez] AID - 10.1002/ajmg.b.30354 [doi] PST - ppublish SO - Am J Med Genet B Neuropsychiatr Genet. 2006 Jul 5;141B(5):435-9. doi: 10.1002/ajmg.b.30354.