Article
Association of genetic variants of ABCA1 with Alzheimer's disease risk.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Oct 2007
Rodríguez-Rodríguez Eloy, Mateo Ignacio, Llorca Javier, Sánchez-Quintana Coro, Infante Jon, García-Gorostiaga Inés, Sánchez-Juan Pascual, Berciano José, Combarros Onofre
Abstract excerpt
ABCA1 plays key roles in cholesterol transport and apolipoprotein E (APOE) metabolism in the brain. To evaluate the relationship between ABCA1 genetic variants and Alzheimer's disease (AD), independently or in concert with the APOE epsilon4 allele, we examined three ABCA1 polymorphisms located in the coding region (R219K, I883M, and R1587K) and two ABCA1 polymorphisms in the promoter region (C-14T and C-477T) in...
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