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BioMed Central, BMC Medical Genetics, 1(12), 2011

DOI: 10.1186/1471-2350-12-151

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

Journal article published in 2011 by Jasmin Bartl, Claus-Jürgen Scholz ORCID, Margareta Hinterberger, Susanne Jungwirth, Ildiko Wichart, Michael K. Rainer, Susanne Kneitz, Walter Danielczyk, Karl H. Tragl, Peter Fischer, Peter Riederer, Edna Grünblatt
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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, Aβ 42 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 Aβ 42 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.