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ABCA1 Transporter: Disease Association: Alzheimer’s Disease (AD)

ABCA1 Transporter: Disease Association:

Alzheimer’s Disease (AD):

- Overexpression of hydroxy-methylglutaryl-coenzyme A reductase (HMGCR) and underexpression of ABCA1 may cause increased cholesterol accumulation, Abeta production, and higher AD risk. Those with both the HMGCR (5′-UTR) GG genotype and the ABCA1 (-14) TT genotype, or the ABCA1 (-477) TT genotype may have a higher risk of having AD [...]

November 4th, 2009 | Tags: , , , , , , , , , , , , , , , , , , , | Category: Alzheimer’s Disease, Diseases, Pharmacogenomics | Leave a comment

ABCA1 - Polymorphisms/Variants/SNPs/Pharmacogenomics

ABCA1

Polymorphisms/Variants/SNPs/Pharmacogenomics

dbSNP

SNP VarView

GeneView in dbSNP

Prediction:

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. Brunham LR, Singaraja RR, Pape TD, Kejariwal A, Thomas PD, Hayden MR. PLoS Genet. 2005 Dec;1(6):e83. Epub 2005 Dec 30. PMID: 16429166

Alzheimer’s Disease:

A novel intronic polymorphism of ABCA1 gene reveals risk for sporadic Alzheimer’s disease [...]

November 3rd, 2009 | Tags: , , , , , , , , , , , , , , , | Category: Diseases, Genetic Variants, Pharmacogenomics, Structure-Function | Leave a comment

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