PMID: 12600718

Wollmer MA, Streffer JR, Lutjohann D, Tsolaki M, Iakovidou V, Hegi T, Pasch T, Jung HH, Bergmann K, Nitsch RM, Hock C, Papassotiropoulos A
ABCA1 modulates CSF cholesterol levels and influences the age at onset of Alzheimer's disease.
Neurobiol Aging. 2003 May-Jun;24(3):421-6., [PubMed]
Sentences
No. Mutations Sentence Comment
4 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 12600718:4:62
status: NEW
view ABCA1 p.Arg219Lys details
 Healthy elderly carriers of the A allele of a non-synonymous (R219K) single nucleotide polymorphism (SNP) in the ABCA1 gene (rs2234884) had on average 33% lower total cholesterol in cerebrospinal fluid (CSF) than non-carriers. Login to comment 112 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 12600718:112:59
status: NEW
view ABCA1 p.Arg219Lys details
 Discussion We found that the A allele of a non-synonymous (R219K) SNP in ABCA1 (rs2234884) is associated with low cholesterol levels in the CSF of cognitively healthy elderly individuals. Login to comment