ABCMdb

PMID: 24252657

Yu XH, Qian K, Jiang N, Zheng XL, Cayabyab FS, Tang CK
ABCG5/ABCG8 in cholesterol excretion and atherosclerosis.
Clin Chim Acta. 2014 Jan 20;428:82-8. doi: 10.1016/j.cca.2013.11.010. Epub 2013 Nov 16., [PubMed]

Sentences

No. Mutations Sentence Comment

746 ABCG8 p.Asp19His It is found that cholesterol absorption is about 24% lower in individuals carrying the p.D19H allele of ABCG8 compared to wild type although there is no significant difference in ABCG5 and ABCG8 expression levels, indicating an important role for the ABCG8 19H allele in promoting cholesterol excretion [28]. Login to comment 748 ABCG8 p.Met429Val In hypercholesterolemic Japanese subjects, serum sitosterol levels and the sitosterol/cholesterol ratio are higher in carriers of the ABCG8 M429V variant than non-carriers [30]. Login to comment 749 ABCG8 p.Thr400Lys A recent report in a heterozygous familial hypercholesterolemia cohort indicates that the T400K polymorphism in the ABCG8 gene has an increased risk of cardiovascular disease but is not associated with cardiovascular endpoints [31]. Login to comment 828 ABCG8 p.Gly574Arg ABCG8 p.Gly574Arg Horenstein et al. have demonstrated that although the G574R variant of ABCG8 is associated with moderately elevated plant sterol levels, carriers of the G574R allele have modestly thinner carotid wall thickness than noncarriers [63]. Login to comment