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PMID: 18468402
Ergen A, Isbir S, Tekeli A, Isbir T
Investigation of ABCA1 C69T and G-191C polymorphisms in coronary artery disease.
In Vivo. 2008 Mar-Apr;22(2):187-90.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
21
ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 18468402:21:82
status:
NEW
view ABCA1 p.Ile883Met details
Martin et al. analyzed three polymorphisms of the ABCA1 gene (-477C/T, R219 K and
I883M
) in a cohort of young male survivors of MI in order to assess the influence of these polymorphisms on long-term prognosis (12).
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63
ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 18468402:63:33
status:
NEW
view ABCA1 p.Ile883Met details
Jensen et al. indicated that the
I883M
variant was associated with higher HDL-cholesterol levels among younger women, with the -565C/T and the -191G/C variants being inversely associated with the risk of CHD among healthy women, without pronounced effects on plasma lipids (17).
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74
ABCA1 p.Ile883Met
X
ABCA1 p.Ile883Met 18468402:74:175
status:
NEW
view ABCA1 p.Ile883Met details
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 18468402:74:165
status:
NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Val771Met
X
ABCA1 p.Val771Met 18468402:74:52
status:
NEW
view ABCA1 p.Val771Met details
They found that the rare alleles of C-14T(C69T) and
V771M
polymorphisms were associated with higher HDL-C levels in men and, in combination with the rare alleles of
R219K
and
I883M
, respectively, with higher HDL-C in both sexes.
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75
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 18468402:75:135
status:
NEW
view ABCA1 p.Arg219Lys details
ABCA1 p.Glu1172Asp
X
ABCA1 p.Glu1172Asp 18468402:75:187
status:
NEW
view ABCA1 p.Glu1172Asp details
In another study of six common polymorphisms of ABCA1, very high HDL-C was found to be associated with a higher genotype frequency for
R219K
and higher genotype and allelic frequency for
E1172D
compared with lower HDL-C (21).
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79
ABCA1 p.Arg219Lys
X
ABCA1 p.Arg219Lys 18468402:79:20
status:
NEW
view ABCA1 p.Arg219Lys details
They suggested that
R219K
polymorphism in Ergen et al: Investigation of ABCA1 C69T and G-191C Polymorphisms in Coronary Artery Disease 189 Table III.
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