Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-61130
Bartl, J; Scholz, C J; Hinterberger, M; Jungwirth, S; Wichart, I; Rainer, M K; Kneitz, S; Danielczyk, W; Tragl, K H; Fischer, P; Riederer, P; Grünblatt, E (2011). Disorder-specific effects of polymorphisms at opposing ends of the Insulin Degrading Enzyme gene. BMC Medical Genetics, 12(12):151.
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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.
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|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > Center for Child and Adolescent Psychiatry|
|Dewey Decimal Classification:||610 Medicine & health|
|Deposited On:||10 Mar 2012 17:17|
|Last Modified:||05 Dec 2013 16:15|
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