ABCMdb

PMID: 16980816

Viturro E, de Oya M, Lasuncion MA, Gorgojo L, Moreno JM, Benavente M, Cano B, Garces C
Cholesterol and saturated fat intake determine the effect of polymorphisms at ABCG5/ABCG8 genes on lipid levels in children.
Genet Med. 2006 Sep;8(9):594-9., [PubMed]

Sentences

No. Mutations Sentence Comment

2 ABCG5 p.Gln604Glu Methods: The polymorphisms ABCG5 C1950G (Gln604Glu) and ABCG8 C1895T (Ala640Val) were determined by polymerase chain reaction and restriction analysis in 1227 healthy school children, aged 6 to 8 years. Login to comment 11 ABCG5 p.Gln604Glu Studies undertaken to determine the relationship between dietary cholesterol absorption and plasma lipoprotein levels showed large individual differences in dietary cholesterol absorption, suggesting a genetic variation among humans in the regulation of this process.8,9 When cholesterol absorption was studied, two members of the human adenosine triphosphate (ATP) Binding Cassette (ABC) transporter family,10 ABCG5 and ABCG8, seem to play a capital role.10,11 These two ATP-dependent half-transporters join to form a transport unit that regulates the absorption of cholesterol from the diet (intestine) and its excretion in the bile (liver).11 Their discovery came from the study of a rare genetic disease, sitosterolemia, characterized by abnormal sterol levels in the blood, caused by the genetic disruption of the ABCG5/G8 transport unit.12 Several mutations in the ABCG5 and ABCG8 genes were identified at this time in sitosterolemic patients.13-15 In addition, common polymorphic variants of these genes have been hypothesized to be related to plasma lipid level differences in the general population, although this association is not clear yet.16,17 Thus, in this study we examined the influence of two of those polymorphisms in the ABCG5 and ABCG8 genes (C1950G [Gln604Glu] and C1895T [Ala640Val], respectively), on determining plasma lipid levels in a sample-based population of 1227 healthy Spanish children, with special attention to the potential effect of dietetic parameters in this determination. Login to comment