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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1007/978-1-61779-182-6_6

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1435-232X

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A common functional exon polymorphism in the micro

Authors: Diana Rubin Ulf Helwig Maria Pfeuffer Stefan Schreiber Heiner Boeing Eva Fisher Andreas Pfeiffer Sandra FreitagWolf Ulrich R Foelsch Frank Doering Juergen Schrezenmeir
Publish Date: 2006/06
Volume: 51, Issue: 6, Pages: 567-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptThe microsomal triglyceride transfer protein MTP is required for the assembly and secretion of apolipoprotein Bcontaining lipoproteins Emerging evidence has indicated that the functional MTP exon polymorphism I128T is associated with dyslipidemia and other traits of the insulinresistance syndrome and the T128 variant seems to confer a reduced stability of MTP resulting in reduced binding of LDL particles The aim of the study was to elucidate the association of this MTP polymorphism with parameters of postprandial metabolism A total of 716 male subjects from a postprandially characterized cohort MICK and a nested casecontrol study EPIC of 190 incident type 2 diabetes cases and 380 sex or agematched controls were genotyped for the I128T exon polymorphism In comparison to homozygote subjects of the wild allele carriers of the less common allele of the MTP T128 genotype showed significantly lower postprandial insulin levels P=0017 lower diastolic blood pressure P=0049 and had a lower prevalence of impaired glucose metabolism and diabetes type 2 P=003 in the MICK Consistent with this we found a lower incidence of type 2 diabetes in male subjects of the nested casecontrol study in the T128 genotype P=0007 These results suggest that the rare allele of the MTP I128T polymorphism may be protective against impaired glucose tolerance type 2 diabetes and other parameters of the metabolic syndrome


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