Journal
JOURNAL OF MEDICAL GENETICS
Volume 44, Issue 2, Pages -Publisher
B M J PUBLISHING GROUP
DOI: 10.1136/jmg.2006.044883
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Funding
- NIA NIH HHS [U24 AG021886, U24AG21886] Funding Source: Medline
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Background: Alzheimer's disease is complex, with variants in multiple genes contributing to interactions increasing risk for the disease. Brain-derived neurotrophic factor (BDNF) promotes neuronal survival and modulates hippocampal-dependent memory. Methods: We examined 11 SNPs that spanned the gene on chromosome 11p14 in 220 Alzheimer's patients and 128 control spouses. Results: Not all of the SNPs were informative, due to minor allele frequencies of < 2%. Neither C270T nor two SNPs that reside proximal to exon V had significant association with the disease. However, we did find that the heterozygous form of the rs6265 SNP (Val66Met), as well as the diplotype of three SNPs (rs6265, rs11030104, rs2049045; H1-GTC/H2-ACG) all were highly significant in APOE 4 non-carriers (OR=2.734; p=0.0096). Conclusion: The combination of the diplotypes for three SNPs exhibited significant p values for Alzheimer's APOE 4 noncarriers. The two SNPs (rs11030104 and rs2049045) are found between exons VI and VII, while the Val66Met polymorphism is located in the coding exon VIII; the total distance for the three SNPs is 14308 bp. Whether the SNPs are involved with alternative splicing of the VII/VIII transcript is of considerable interest.
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