ABCMdb

PMID: 15175352

Gylling H, Hallikainen M, Pihlajamaki J, Agren J, Laakso M, Rajaratnam RA, Rauramaa R, Miettinen TA
Polymorphisms in the ABCG5 and ABCG8 genes associate with cholesterol absorption and insulin sensitivity.
J Lipid Res. 2004 Sep;45(9):1660-5. Epub 2004 Jun 1., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Low serum cholesterol and cholesterol absorption were linked to the D19H polymorphism of the ABCG8 gene, and characteristics of the insulin resistance syndrome in men were linked with the Q604E polymorphism of the ABCG5 gene.-Gylling, H., M. Hallikainen, J. Pihlajam&#e4;ki, J. &#c5;gren, M. Laakso, R. A. Rajaratnam, R. Rauramaa, and T. A. Miettinen. Login to comment 7 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Low serum cholesterol and cholesterol absorption were linked to the D19H polymorphism of the ABCG8 gene, and characteristics of the insulin resistance syndrome in men were linked with the Q604E polymorphism of the ABCG5 gene.-Gylling, H., M. Hallikainen, J. Pihlajamäki, J. Ågren, M. Laakso, R. A. Rajaratnam, R. Rauramaa, and T. A. Miettinen. Login to comment 17 ABCG8 p.Asp19His ABCG8 p.Thr400Lys Two sequence variations (D19H and T400K) in the G8 gene were shown to be associated with lower serum plant sterol levels in a normolipidemic family study (5). Login to comment 18 ABCG8 p.Asp19His ABCG8 p.Thr400Lys Two sequence variations (D19H and T400K) in the G8 gene were shown to be associated with lower serum plant sterol levels in a normolipidemic family study (5). Login to comment 72 ABCG8 p.Asp19His The D19H polymorphism of the G8 gene was unevenly distributed in the cholestanol tertiles (Chi square 15.292; P 0.001), so that the 19H allele was more common in the first tertile compared with the other tertiles (Table 2). Login to comment 73 ABCG8 p.Asp19His The D19H polymorphism of the G8 gene was unevenly distributed in the cholestanol tertiles (Chi square 15.292; P 0.001), so that the 19H allele was more common in the first tertile compared with the other tertiles (Table 2). Login to comment 74 ABCG8 p.Asp19His The D19H polymorphism of the G8 gene was unevenly distributed in the cholestanol tertiles (Chi square ϭ 15.292; P Ͻ 0.001), so that the 19H allele was more common in the first tertile compared with the other tertiles (Table 2). Login to comment 86 ABCG8 p.Asp19His The metabolic variables were examined in the cholestanol tertiles in subjects with and without the D19H polymorphism of the G8 gene (Fig. 1). Login to comment 87 ABCG8 p.Asp19His The metabolic variables were examined in the cholestanol tertiles in subjects with and without the D19H polymorphism of the G8 gene (Fig. 1). Login to comment 88 ABCG8 p.Asp19His The metabolic variables were examined in the cholestanol tertiles in subjects with and without the D19H polymorphism of the G8 gene (Fig. 1). Login to comment 89 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Because the D19H polymorphism of the ABCG8 gene and the Q604E polymorphism of the ABCG5 gene, the polymorphisms most strongly associated with cholesterol absorption and insulin action, were in linkage disequilibrium, we analyzed the effect of combined genotypes of these two polymorphisms on the levels of cholestanol (a marker of cholesterol absorption) and fasting insulin (a marker of insulin action). Login to comment 90 ABCG5 p.Gln604Glu ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Asp19His Figure 2 demonstrates that the D19H polymorphism of the G8 gene was associated more strongly with cholesterol absorption and the Q604E polymorphism of the G5 gene was associated with fasting insulin. Login to comment 91 ABCG5 p.Gln604Glu ABCG5 p.Gln604Glu ABCG8 p.Asp19His ABCG8 p.Asp19His Because the D19H polymorphism of the ABCG8 gene and the Q604E polymorphism of the ABCG5 gene, the polymorphisms most strongly associated with cholesterol absorption and insulin action, were in linkage disequilibrium, we analyzed the effect of combined genotypes of these two polymorphisms on the levels of cholestanol (a marker of cholesterol absorption) and fasting insulin (a marker of insulin action). Login to comment 92 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Figure 2 demonstrates that the D19H polymorphism of the G8 gene was associated more strongly with cholesterol absorption and the Q604E polymorphism of the G5 gene was associated with fasting insulin. Login to comment 95 ABCG5 p.Gln604Glu ABCG8 p.Asp19His The D19H polymorphism of the G8 gene was most strongly associated with cholesterol absorption, and the Q604E polymorphism of the G5 gene was associated with insulin action. Login to comment 96 ABCG5 p.Gln604Glu ABCG8 p.Asp19His The D19H polymorphism of the G8 gene was most strongly associated with cholesterol absorption, and the Q604E polymorphism of the G5 gene was associated with insulin action. Login to comment 97 ABCG5 p.Gln604Glu ABCG8 p.Asp19His The D19H polymorphism of the G8 gene was most strongly associated with cholesterol absorption, and the Q604E polymorphism of the G5 gene was associated with insulin action. Login to comment 100 ABCG5 p.Gln604Lys The Q604K polymorphism of the G5 gene was associated with obesity, low cholesterol absorption marker level, high serum fasting insulin level, and impaired whole-body glucose uptake, suggesting insulin resistance in men. Login to comment 101 ABCG5 p.Gln604Lys The Q604K polymorphism of the G5 gene was associated with obesity, low cholesterol absorption marker level, high serum fasting insulin level, and impaired whole-body glucose uptake, suggesting insulin resistance in men. Login to comment 102 ABCG5 p.Gln604Lys The Q604K polymorphism of the G5 gene was associated with obesity, low cholesterol absorption marker level, high serum fasting insulin level, and impaired whole-body glucose uptake, suggesting insulin resistance in men. Login to comment 110 ABCG8 p.Asp19His In a family study of a normal population by Berge et al. (5), the D19H substitution of the G8 gene resulted in a completely different situation: low serum cholestanol, sitosterol, and campesterol levels, suggesting limited sterol absorption. Login to comment 111 ABCG8 p.Asp19His In a family study of a normal population by Berge et al. (5), the D19H substitution of the G8 gene resulted in a completely different situation: low serum cholestanol, sitosterol, and campesterol levels, suggesting limited sterol absorption. Login to comment 112 ABCG8 p.Asp19His ABCG8 p.Thr400Lys In a family study of a normal population by Berge et al. (5), the D19H substitution of the G8 gene resulted in a completely different situation: low serum cholestanol, sitosterol, and campesterol levels, suggesting limited sterol absorption. Login to comment 113 ABCG8 p.Asp19His ABCG8 p.Thr400Lys Concerning the D19H polymorphism of the G8 gene, the present results confirmed the findings by Berge et al. (5) that serum absorption marker sterols were lower in subjects with this polymorphism. Login to comment 114 ABCG8 p.Asp19His ABCG8 p.Asp19His ABCG8 p.Thr400Lys The authors also described the following two associations: the T400K polymorphism of the G8 gene was associated with high serum desmosterol and lathosterol ratios to cholesterol and low sitosterol ratios, and the A632V polymorphism of the G8 gene was associated with high serum total cholesterol value (5), none of which could be observed in the present study. Login to comment 115 ABCG8 p.Asp19His ABCG8 p.Asp19His Concerning the D19H polymorphism of the G8 gene, the present results confirmed the findings by Berge et al. (5) that serum absorption marker sterols were lower in subjects with this polymorphism. Login to comment 116 ABCG8 p.Asp19His In addition, a novel finding in the present study was that the D19H polymorphism was more frequent in the first tertile than in the other cholestanol tertiles. Login to comment 120 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Effect of the combined genotypes of the D19H and Q604E polymorphisms of the G8 and G5 genes on serum cholestanol-to-cholesterol ratio (102 mmol/mol cholesterol) and serum insulin level (mU/l) in the study population (n 262). Login to comment 121 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Effect of the combined genotypes of the D19H and Q604E polymorphisms of the G8 and G5 genes on serum cholestanol-to-cholesterol ratio (102 mmol/mol cholesterol) and serum insulin level (mU/l) in the study population (n 262). Login to comment 122 ABCG5 p.Gln604Glu ABCG8 p.Asp19His Effect of the combined genotypes of the D19H and Q604E polymorphisms of the G8 and G5 genes on serum cholestanol-to-cholesterol ratio (102 ϫ mmol/mol cholesterol) and serum insulin level (mU/l) in the study population (n ϭ 262). Login to comment 123 ABCG8 p.Asp19His morphism had low serum total and LDL cholesterol levels, supporting the hypothesis presented above that serum cholesterol level is also regulated by cholesterol absorption efficiency through the D19H polymorphism in noncoronary subjects with primary mild to moderate hypercholesterolemia. Login to comment 124 ABCG8 p.Asp19His morphism had low serum total and LDL cholesterol levels, supporting the hypothesis presented above that serum cholesterol level is also regulated by cholesterol absorption efficiency through the D19H polymorphism in noncoronary subjects with primary mild to moderate hypercholesterolemia. Login to comment 125 ABCG8 p.Asp19His morphism had low serum total and LDL cholesterol levels, supporting the hypothesis presented above that serum cholesterol level is also regulated by cholesterol absorption efficiency through the D19H polymorphism in noncoronary subjects with primary mild to moderate hypercholesterolemia. Login to comment 127 ABCG8 p.Asp19His In the present study, the presence of the D19H polymorphic site seemed to prevent the increase of serum sitosterol ratio differently from the wild type in increasing cholestanol tertiles, suggesting an inhibitory effect on cholesterol absorption, and the compensatory increase in cholesterol synthesis in these subjects could be seen. Login to comment 128 ABCG8 p.Asp19His In the present study, the presence of the D19H polymorphic site seemed to prevent the increase of serum sitosterol ratio differently from the wild type in increasing cholestanol tertiles, suggesting an inhibitory effect on cholesterol absorption, and the compensatory increase in cholesterol synthesis in these subjects could be seen. Login to comment 129 ABCG5 p.Gln604Lys ABCG8 p.Asp19His In the present study, the presence of the D19H polymorphic site seemed to prevent the increase of serum sitosterol ratio differently from the wild type in increasing cholestanol tertiles, suggesting an inhibitory effect on cholesterol absorption, and the compensatory increase in cholesterol synthesis in these subjects could be seen. Login to comment 130 ABCG5 p.Gln604Lys The Q604K polymorphism of the G5 gene was associated with insulin sensitivity, at least in men. Login to comment 131 ABCG5 p.Gln604Lys The Q604K polymorphism of the G5 gene was associated with insulin sensitivity, at least in men. Login to comment