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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2011

Open Access 01-12-2011 | Research article

Disorder-specific effects of polymorphisms at opposing ends of the Insulin Degrading Enzymegene

Authors: Jasmin Bartl, Claus-Jürgen Scholz, Margareta Hinterberger, Susanne Jungwirth, Ildiko Wichart, Michael K Rainer, Susanne Kneitz, Walter Danielczyk, Karl H Tragl, Peter Fischer, Peter Riederer, Edna Grünblatt

Published in: BMC Medical Genetics | Issue 1/2011

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Abstract

Background

Insulin-degrading enzyme (IDE) is the ubiquitously expressed enzyme responsible for insulin and amyloid beta (Aβ) degradation. IDE gene is located on chromosome region 10q23-q25 and exhibits a well-replicated peak of linkage with Type 2 diabetes mellitus (T2DM). Several genetic association studies examined IDE gene as a susceptibility gene for Alzheimer's disease (AD), however with controversial results.

Methods

We examined associations of three IDE polymorphisms (IDE2, rs4646953; IDE7, rs2251101 and IDE9, rs1887922) with AD, Aβ42 plasma level and T2DM risk in the longitudinal Vienna Transdanube Aging (VITA) study cohort.

Results

The upstream polymorphism IDE2 was found to influence AD risk and to trigger the Aβ42 plasma level, whereas the downstream polymorphism IDE7 modified the T2DM risk; no associations were found for the intronic variant IDE9.

Conclusions

Based on our SNP and haplotype results, we delineate the model that IDE promoter and 3' untranslated region/downstream variation may have different effects on IDE expression, presumably a relevant endophenotype with disorder-specific effects on AD and T2DM susceptibility.
Appendix
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Metadata
Title
Disorder-specific effects of polymorphisms at opposing ends of the Insulin Degrading Enzymegene
Authors
Jasmin Bartl
Claus-Jürgen Scholz
Margareta Hinterberger
Susanne Jungwirth
Ildiko Wichart
Michael K Rainer
Susanne Kneitz
Walter Danielczyk
Karl H Tragl
Peter Fischer
Peter Riederer
Edna Grünblatt
Publication date
01-12-2011
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2011
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-12-151

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