Disorder-specific effects of polymorphisms at opposing ends of the <it>Insulin Degrading Enzyme </it>gene

• Main Authors: Bartl Jasmin (Author), Scholz Claus-Jürgen (Author), Hinterberger Margareta (Author), Jungwirth Susanne (Author), Wichart Ildiko (Author), Rainer Michael K (Author), Kneitz Susanne (Author), Danielczyk Walter (Author), Tragl Karl H (Author), Fischer Peter (Author), Riederer Peter (Author), Grünblatt Edna (Author)
• Format: Book
• Published: BMC, 2011-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>Background</p> <p>Insulin-degrading enzyme (IDE) is the ubiquitously expressed enzyme responsible for insulin and amyloid beta (Aβ) degradation. <it>IDE </it>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 <it>IDE </it>gene as a susceptibility gene for Alzheimer's disease (AD), however with controversial results.</p> <p>Methods</p> <p>We examined associations of three <it>IDE </it>polymorphisms (IDE2, rs4646953; IDE7, rs2251101 and IDE9, rs1887922) with AD, Aβ₄₂plasma level and T2DM risk in the longitudinal Vienna Transdanube Aging (VITA) study cohort.</p> <p>Results</p> <p>The upstream polymorphism IDE2 was found to influence AD risk and to trigger the Aβ₄₂plasma level, whereas the downstream polymorphism IDE7 modified the T2DM risk; no associations were found for the intronic variant IDE9.</p> <p>Conclusions</p> <p>Based on our SNP and haplotype results, we delineate the model that <it>IDE</it> promoter and 3' untranslated region/downstream variation may have different effects on <it>IDE</it> expression, presumably a relevant endophenotype with disorder-specific effects on AD and T2DM susceptibility.</p>

Item Description

10.1186/1471-2350-12-151
1471-2350