PMID: 14986172

Shioji K, Nishioka J, Naraba H, Kokubo Y, Mannami T, Inamoto N, Kamide K, Takiuchi S, Yoshii M, Miwa Y, Kawano Y, Miyata T, Miyazaki S, Goto Y, Nonogi H, Tago N, Iwai N
A promoter variant of the ATP-binding cassette transporter A1 gene alters the HDL cholesterol level in the general Japanese population.
J Hum Genet. 2004;49(3):141-7. Epub 2004 Feb 21., [PubMed]
Sentences
No. Mutations Sentence Comment
28 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 14986172:28:34
status: NEW
view ABCA1 p.Arg219Lys details
Well-known common variants, ABCA1 R219K and I823M, were also selected (Wang et al. 2000; Clee et al. 2001; Harada et al. 2003). Login to comment
65 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 14986172:65:55
status: NEW
view ABCA1 p.Arg219Lys details
Among the polymorphisms selected from JSNPs, including R219K and I823M, only the IMS-JST071749 polymorphism was associated with the HDL-C level (P=0.0060 adjusted for age, sex, BMI, smoking, and consumption of alcohol; P=0.0093 when also adjusted for the ApoE and ApoA1 (IMS-JST005603) genotypes). Login to comment
66 ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 14986172:66:4
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 14986172:66:86
status: NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 14986172:66:188
status: NEW
view ABCA1 p.Arg219Lys details
The R219K and I823M polymorphisms were not associated with the HDL-C level [P=0.3877 (R219K) and P=0.2286 (I823M) adjusted for age, sex, BMI, smoking and consumption of alcohol; P=0.1926 (R219K) and P=0.1209 (I823M) when also adjusted for the ApoE and ApoA1 genotypes]. Login to comment