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Functional analysis of promoter variants in the microsomal triglyceride transfer protein (MTTP) gene

✍ Scribed by Diana Rubin; Alexandra Schneider-Muntau; Maja Klapper; Inke Nitz; Ulf Helwig; Ulrich R. Fölsch; Jürgen Schrezenmeir; Frank Döring

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
238 KB
Volume
29
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by David S. Rosenblatt

The microsomal triglyceride transfer protein (MTTP) is required for the assembly and secretion of apolipoprotein B (apoB)-containing lipoproteins from the intestine and liver. According to this function, polymorphic sites in the MTTP gene showed associations to low-density lipoprotein (LDL) cholesterol and related traits of the metabolic syndrome. Here we studied the functional impact of common MTTP promoter polymorphisms rs1800804:T4C (À164T4C), rs1800803:A4T (À400A4T), and rs1800591:G4T (À493G4T) using gene-reporter assays in intestinal Caco-2 and liver Huh-7 cells. Significant results were obtained in Huh-7 cells. The common MTTP promoter haplotype À164T/À400A/À493G showed about twofold lower activity than the rare haplotype À164C/À400T/À493T. MTTP promoter mutant constructs À164T/ À400A/À493T and À164T/À400T/À493T exhibited similar activity than the common haplotype. Activities of mutants À164C/À400A/À493G and À164C/À400A/À493T resembled the rare MTTP promoter haplotype. Electrophoretic mobility shift assays (EMSAs) revealed higher binding capacity of the transcriptional factor Sterol regulatory element binding protein1a (SREBP1a) to the À164T probe in comparison to the À164C probe. In conclusion, our study indicates that the polymorphism À164T4C mediates different activities of common MTTP promoter haplotypes via SREBP1a. This suggested that the already described SREBPdependent modulation of MTTP expression by diet is more effective in À164T than in À164C carriers.

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