ABCMdb

ABCG5 p.Gln604Lys

Predicted by SNAP2:	A: D (75%), C: D (85%), D: D (85%), E: D (80%), F: D (85%), G: D (91%), H: D (85%), I: D (85%), K: D (85%), L: D (85%), M: D (85%), N: D (80%), P: D (91%), R: D (91%), S: D (80%), T: D (75%), V: D (80%), W: D (95%), Y: D (85%),
Predicted by PROVEAN:	A: N, C: N, D: N, E: N, F: D, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, R: N, S: N, T: N, V: N, W: D, Y: N,

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Publications
[hide] Polymorphisms in the ABCG5 and ABCG8 genes associa... J Lipid Res. 2004 Sep;45(9):1660-5. Epub 2004 Jun 1. 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., [PMID:15175352]

Abstract [show]
The roles of polymorphisms of the sitosterolemia genes ABCG5 and ABCG8 in the regulation of cholesterol metabolism and insulin sensitivity were studied in mildly hypercholesterolemic noncoronary subjects (n = 263, 144 men and 119 women) divided into tertiles by baseline serum cholestanol-to-cholesterol ratio (< or = 118.3 and > or = 147.7 10(2) x mmol/mol cholesterol), a surrogate marker of cholesterol absorption efficiency. The lowest cholestanol tertile was associated with high body mass index (BMI), plasma glucose, serum insulin and triglycerides, and cholesterol synthesis markers (cholestenol, desmosterol, lathosterol) and low HDL cholesterol and cholesterol absorption markers (campesterol, sitosterol) (P < 0.01 for all). The 19H allele of the ABCG8 gene accumulated in the lowest cholestanol tertile (P < 0.001) and was associated with low total and LDL cholesterol and absorption markers and with high synthesis markers (P < 0.05 for all). The 604E allele of the ABCG5 gene in men was associated with high BMI, plasma insulin, low serum sitosterol, and high serum cholestenol levels (P < 0.05 for all). In a subgroup of 71 men, the 604E allele was associated with insulin resistance measured with the hyperinsulinemic euglycemic clamp. In conclusion, low cholesterol absorption efficiency was associated with characteristics of the metabolic syndrome. 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.

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No. Sentence Comment
102 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
131 The Q604K polymorphism of the G5 gene was associated with insulin sensitivity, at least in men. Login to comment
129 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
100 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 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
130 The Q604K polymorphism of the G5 gene was associated with insulin sensitivity, at least in men. Login to comment