title: Genetic variation in the brain derived neurotrophic factor gene in Alzheimer's disease.
abstract: Genes known to contribute to the genetic predisposition to Alzheimer's disease (AD) are active in pathways of neurodegeneration but explain only a minority of the genetic contribution to AD. A protein of importance in cerebral neurodegeneration is the brain-derived neurotrophic factor (BDNF). Variations in two single-nucleotide polymorphisms (SNPs) within the BDNF gene have previously been associated with AD, and one of these SNPs has also been associated with memory loss and affective disorders. We performed a case control study of three BDNF SNPs in 250 neuropathologically confirmed cases of AD and 194 unrelated controls. We did not find a significant association between the three BDNF SNPs studied and AD when evaluated individually or with haplotype analysis. Nor did BDNF genotype appear to affect the APOE epsilon4 association with AD. The three SNPs studied were closely linked (D' = 0.99 across the region). We discuss possible reasons for our failure to confirm the previously reported associations.
authors.affiliation: Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. s.bodner@att.net
authors.forename: Sara M
authors.initials: SM
authors.lastname: Bodner
authors.forename: Wade
authors.initials: W
authors.lastname: Berrettini
authors.forename: Vivianna
authors.initials: V
authors.lastname: van Deerlin
authors.forename: David A
authors.initials: DA
authors.lastname: Bennett
authors.forename: Robert S
authors.initials: RS
authors.lastname: Wilson
authors.forename: John Q
authors.initials: JQ
authors.lastname: Trojanowski
authors.forename: Steven E
authors.initials: SE
authors.lastname: Arnold
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D019208:Brain-Derived Neurotrophic Factor