Combined effects of the C161T and Pro12Ala PPARγ2 gene variants with insulin resistance on metabolic syndrome: a case-control study of a central Tunisian population.

We investigated the synergism between variants at the PPARγ locus (C161T and Pro12Ala polymorphisms) with insulin resistance on metabolic syndrome (MS). Five hundred twenty-two subjects were investigated for biochemical and anthropometric measurements. The diagnosis of MS was based on the IDF definition (2009).

Interaction Effects of the Leu162Val PPAR α and Pro12Ala PPAR γ 2 Gene Variants with Renal Function in Metabolic Syndrome Population.

Leu162Val PPAR α and Pro12Ala PPAR γ 2 were investigated for their individual and their interactive impact on MS and renal functionality (RF). 522 subjects were investigated for biochemical and anthropometric measurements. The diagnosis of MS was based on the IDF definition (2009).

A Pro 12 Ala substitution in the PPARγ2 polymorphism may decrease the number of diseased vessels and the severity of angiographic coronary artery.

Aims: Peroxisome proliferator-activated receptor γ (PPARγ) is a ligand-activated transcription factor that regulates the gene expression of the key proteins involved in lipid metabolism, vascular inflammation, and proliferation. PPARγ may contribute toward attenuation of atherogenesis. We investigated the relationship of the Pro 12 Ala PPARγ2 polymorphism with the presence and severity of coronary artery disease (CAD) assessed by Gensini score (Gs).

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene.

Background: Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB). ABL results from genetic deficiency in microsomal triglyceride transfer protein (MTP; OMIM 157147). In the present study we investigated two unrelated Tunisian patients, born from consanguineous marriages, with severe deficiency of plasma low-density lipoprotein (LDL) and apo B.