PMID: 19306529

Sabeva NS, Liu J, Graf GA
The ABCG5 ABCG8 sterol transporter and phytosterols: implications for cardiometabolic disease.
Curr Opin Endocrinol Diabetes Obes. 2009 Apr;16(2):172-7., [PubMed]
Sentences
No. Mutations Sentence Comment
100 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 19306529:100:4
status: VERIFIED
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 The D19H polymorphism has been positively associated with the risk of cholesterol gallstones in three independent studies using multiple ethnicities [24-26]. Login to comment 122 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 19306529:122:90
status: VERIFIED
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 A recent report in a heterozygous familial hypercholesterolemia cohort indicates that the D19H polymorphism in the ABCG8 gene is associated with increased risk of coronary heart disease [43]. Login to comment 123 ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 19306529:123:42
status: VERIFIED
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ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 19306529:123:51
status: VERIFIED
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 In this same cohort, the presence of both D19H and T400K increased risk of coronary heart disease and cardiovascular disease . Login to comment 126 ABCG8 p.Thr400Lys
X
ABCG8 p.Thr400Lys 19306529:126:13
status: VERIFIED
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 Although the T400K polymorphism in ABCG8 influences the cholesterol-lowering effect of phytosterol supplementation, efficacy is independent of baseline plant sterol levels as well as cholesterol intake [31,34,35]. Login to comment