Disorder-specific effects of polymorphisms at opposing ends of the Insulin Degrading Enzymegene
Please always quote using this URN: urn:nbn:de:bvb:20-opus-137744
- 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) withBackground 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.…
Author: | 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 |
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URN: | urn:nbn:de:bvb:20-opus-137744 |
Document Type: | Journal article |
Faculties: | Medizinische Fakultät / Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie |
Language: | English |
Parent Title (English): | BMC Medical Genetics |
Year of Completion: | 2011 |
Volume: | 12 |
Issue: | 151 |
Source: | BMC Medical Genetics 2011, 12:151. DOI 10.1186/1471-2350-12-15 |
DOI: | https://doi.org/10.1186/1471-2350-12-15 |
Dewey Decimal Classification: | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 616 Krankheiten |
Tag: | Insulin Degrading Enzyme |
Release Date: | 2016/08/26 |
Collections: | Open-Access-Publikationsfonds / Förderzeitraum 2011 |
Licence (German): | CC BY: Creative-Commons-Lizenz: Namensnennung |