ABCMdb

PMID: 17002235

Chan YM, Varady KA, Lin Y, Trautwein E, Mensink RP, Plat J, Jones PJ
Plasma concentrations of plant sterols: physiology and relationship with coronary heart disease.
Nutr Rev. 2006 Sep;64(9):385-402., [PubMed]

Sentences

No. Mutations Sentence Comment

71 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Asp19His ABCG8 p.Thr400Lys ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys Aside from the rare mutation of a homozygous form resulting in sitosterolemia, several common sequence variations have been described.71 Different studies have shown independently that the cross-sectional plant sterol-to-cholesterol ratio is associated with different ABCG5 and ABCG8 polymorphisms.10,27,72 Out of the five polymorphisms analyzed in relation to concentrations of plant sterols, D19H, Y54C, T400K, A632V, and Q604E, the polymorphisms D19H in exon 1 and T400K in exon 8 of ABCG8 show the most pronounced association. Login to comment 72 ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Asp19His ABCG8 p.Asp19His ABCG8 p.Thr400Lys ABCG8 p.Thr400Lys ABCG8 p.Tyr54Cys Carriers of the H allele of the D19H polymorphism in ABCG8 were found to have a lower plasma campesterol-to-cholesterol ratio10,27 and sitosterol-to-cholesterol ratio,10 suggesting a higher activity of this variant. Login to comment 73 ABCG8 p.Asp19His ABCG8 p.Thr400Lys A similar finding was observed for the K allele of the T400K polymorphism in exon 8 of ABCG8.27,72 Interestingly, no consistent cross-sectional associations between plasma cholesterol concentrations and any of these ABCG5 or ABCG8 polymorphisms have been described so far.10,27,72,73 In addition to these cross-sectional associations, genetic variations in these ABC transporters may also predict which subjects are prone to develop elevated plant sterol concentrations. Login to comment 74 ABCG8 p.Thr400Lys ABCG8 p.Thr400Lys In this respect, carriers of the T allele of the T400K polymorphism showed a larger reduction in both the campesterol-to-cholesterol and the sitosterol-to-cholesterol ratios during interventions known to lower plasma plant sterols.72 Although not evaluated, it can be speculated that these subjects would also show larger elevations in circulating plant sterol levels as a result of consuming plant sterol-enriched functional foods18,70 or undergoing treatment with statins74 Table1. Login to comment 75 ABCG8 p.Thr400Lys In this respect, carriers of the T allele of the T400K polymorphism showed a larger reduction in both the campesterol-to-cholesterol and the sitosterol-to-cholesterol ratios during interventions known to lower plasma plant sterols.72 Although not evaluated, it can be speculated that these subjects would also show larger elevations in circulating plant sterol levels as a result of consuming plant sterol-enriched functional foods18,70 or undergoing treatment with statins74 Table 1. Login to comment