Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred

Abstract

that transcriptional activity of the apoA-II promoter was reduced by 30% in the Ϫ265C variant as compared with the Ϫ265T variant. We thus concluded that one variant of the apoA-II gene was associated with reduced plasma LDL cholesterol only in FH patients.

The −256T>C Polymorphism in the Apolipoprotein A-II Gene Promoter Is Associated with Body Mass Index and Food Intake in the Genetics of Lipid Lowering Drugs and Diet Network Study

“…Interestingly, a TϾC transition at position Ϫ265 (rs no. 5082) affecting element D of the APOA2 promoter has been reported to be functional in 2 independent studies, both demonstrating an ϳ30% drop in basal transcription activity (16,17 ). In one of these studies, the Ϫ265TϾC polymorphism was associated with waist circumference in men (16 ).…”

Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease

“…The mutation alters the splicing of mRNA 5 and produces a severely truncated LDL-receptor protein. Heterozygous familial hypercholesterolemia (HeFH) is a monogenic disorder that affects about 1 in 500 people, with a higher prevalence in certain subpopulations such as people of Quebecois, Christian Lebanese and Dutch South Afrikaner extraction.…”

A promoter SNP (–1323T>C) in G-substrate gene (GSBS) correlates with hypercholesterolemia

“…In summary, we noted association between a putative regulatory region variation of the G-substrate (GSBS) gene and hypercholesterolemia in 368 subjects from an area of east-central region of Japan. Given our genetic results, we expect that the effects of multiple genes, both additive and interactive (Lalouel et al 2001;Takada et al 2002), will eventually prove to be responsible for many cases of common, inherited, mixed dislipidemias.…”