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P1–272: Association of a functional variant (I89V) in the high affinity choline transporter with Alzheimer's disease
Author(s) -
Du Yansheng,
Wei Xing,
Tagliabracci Vincet,
Bales Kelly R.,
Higgs Richard J.,
Dodel Richard,
Hampel Harald,
Farlow Martin
Publication year - 2006
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2006.05.649
Subject(s) - choline , allele , population , biology , single nucleotide polymorphism , allele frequency , acetylcholine , medicine , microbiology and biotechnology , endocrinology , biochemistry , genetics , gene , genotype , environmental health
Recently, a single nucleotide polymorphism (rs699947) within the promoter of the Vascular Endothelial Growth Factor (VEGF) gene has been reported to be associated with the risk of developing AD in an Italian population (Del bo et al., Ann Neurol. 2005;57:373-80). To validate this observation, we assessed the impact of this SNP on the risk of developing AD in a large French case-control population (respectively n 630 and n 664). We also evaluated its association with the severity of vascular lesions (arteriosclerosis, white matter loss and cerebral amyloid angiopathy) in AD brains (n 76). No association of this SNP with the risk of developing AD was observed (OR 1.1, 95% CI [0.9-1.4], p 0.39 adjusted on age and gender). No relationship between this SNP and vascular lesions in AD was detected. We next focused on the MEOX2 gene coding for a transcriptional factor involved in vascular differentiation and strongly under-expressed in AD brain endothelial cells (Wu et al., Nat Med. 2005;11:959-65). We analyzed the association of 4 SNPs with the risk of developing AD in a sub-population obtained by drawing lots from our large French case-control population (respectively, n 223 and n 265). No association was found whatever the studied SNPs. Furthermore, the haplotype distribution did not differ between the AD cases and control sub-populations.