Genetic variation in the brain derived neurotrophic factor gene in Alzheimer's disease

作者：Bodner SM^*; Berrettini W; van Deerlin V; Bennett DA; Wilson RS; Trojanowski JQ; Arnold SE

来源：American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 2005, 134B(1): 1-5.

DOI：10.1002/ajmg.b.30154

• Alzheimer's disease
• BDNF
• dementia
• association study
• APOE epsilon 4

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 epsilon 4 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.

• 出版日期2005-4-5