PMID: 16157450

Shibata N, Kawarai T, Lee JH, Lee HS, Shibata E, Sato C, Liang Y, Duara R, Mayeux RP, St George-Hyslop PH, Rogaeva E
Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.
Neurosci Lett. 2006 Jan 2;391(3):142-6. Epub 2005 Sep 12., [PubMed]
Sentences
No. Mutations Sentence Comment
71 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 16157450:71:92
status: NEW
view ABCA1 p.Arg219Lys details
 In a previous study, investigating sporadic AD patients, the A-allele of the non-synonymous R219K SNP (rs2230806) in ABCA1 was associated with a reduction of total cholesterol in cerebrospinal fluid and a delay in age-at-onset [17]. Login to comment 72 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 16157450:72:72
status: NEW
view ABCA1 p.Arg219Lys details
 However, the current study failed to detect a significant effect of the R219K variation on age-at-onset. Login to comment