American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2006 · 56 citations · 21 references
Life SciencesGeneticsMolecular GeneticsDementiaHuman GeneticsMedical GeneticsAlzheimer DiseaseDementia Risk FactorsGenetic RiskGenetic Risk FactorsGenetic SusceptibilityNeurodegenerative Disease GeneticsAbc TransportersAlzheimer Disease RiskAtp-binding Cassette Transporter PolymorphismsEarly Onset Alzheimer DiseaseGenetic Risk MarkersSingle Nucleotide Polymorphism MarkersTransporter Gene PolymorphismsTransporter Genetic Polymorphisms
A recent study demonstrated a significant genetic association between the ATP-binding cassette transporter A2 (ABCA2) and the risk for Alzheimer's disease (AD) in a large Caucasian sample. The rare T allele of the synonymous exonic single nucleotide polymorphism (SNP) rs908832 was overrepresented in early-onset AD patients as compared to cognitively healthy controls. Here we confirm the association of rs908832 with AD in a Western European population (n = 291, P = 0.008). In a second sample from Southern Europe, rs908832 was not associated with AD. Interestingly, rs908832 was not polymorphic in a Japanese sample. Furthermore, rs908832 was not associated with either serum cholesterol levels or with the risk for coronary artery disease, but seemed to be related to cholesterol levels in the cerebrospinal fluid. These data suggest that ABCA2 may exert population-dependent effects on the genetic risk for sporadic AD and support a role of ABC lipid transporters in the pathogenesis of this disease.
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