Academic Journal
Explorative results from multistep screening for potential genetic risk loci of Alzheimer's disease in the longitudinal VITA study cohort
| العنوان: | Explorative results from multistep screening for potential genetic risk loci of Alzheimer's disease in the longitudinal VITA study cohort |
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| المؤلفون: | Scholz, Claus-Jürgen, Weber, Heike, Jungwirth, Susanne, Danielczyk, Walter, Reif, Andreas, Tragl, Karl-Heinz, Fischer, Peter, Riederer, Peter, Deckert, Jürgen, Grünblatt, Edna |
| المصدر: | Scholz, Claus-Jürgen; Weber, Heike; Jungwirth, Susanne; Danielczyk, Walter; Reif, Andreas; Tragl, Karl-Heinz; Fischer, Peter; Riederer, Peter; Deckert, Jürgen; Grünblatt, Edna (2018). Explorative results from multistep screening for potential genetic risk loci of Alzheimer's disease in the longitudinal VITA study cohort. Journal of Neural Transmission, 125(1):77-87. |
| بيانات النشر: | Springer |
| سنة النشر: | 2018 |
| المجموعة: | University of Zurich (UZH): ZORA (Zurich Open Repository and Archive |
| مصطلحات موضوعية: | Department of Child and Adolescent Psychiatry, 610 Medicine & health, Alzheimer’s disease, Candidate gene identification, Cohort study, Genotyping microarray, Pooled DNA analysis |
| الوصف: | Alzheimer's disease (AD) is a neurodegenerative disorder that preferentially affects individuals of advanced age. Heritability estimates for AD range between 60 and 80%, but only few genetic risk factors have been identified so far. In the present explorative study, we aimed at characterizing the genetic contribution to late-onset AD in participants of the Vienna Transdanube Aging (VITA) longitudinal birth cohort study in a two-step approach. First, we performed a genome-wide screen of pooled DNA samples (n = 588) to identify allele frequency differences between AD patients and non-AD individuals using life-time diagnoses made at the age of 80 (t = 60 months). This analysis suggested a high proportion of brain-expressed genes required for cell adhesion, cell signaling and cell morphogenesis, and also scored in known AD risk genes. In a second step, we confirmed associations using individual genotypes of top-ranked markers examining AD diagnoses as well as the dimensional scores: FULD and MMSE determined up to the age of 82.5 (t = 90 months). Taken together, our study proposes genes ANKS1B, ENST00000414107, LOC100505811, SLC22A14, QRFPR, ZDHHC8P1, ADAMTS3 and PPFIA1 as possible new candidates involved in the etiology of late-onset AD, with further research being needed to clarify their exact roles. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 0300-9564 |
| Relation: | https://www.zora.uzh.ch/id/eprint/141256/1/Scholz_et_al_2017__Explorative_results_from_multistep_screening_for_potential_genetic.pdf; info:pmid/29027019; urn:issn:0300-9564 |
| الاتاحة: | https://www.zora.uzh.ch/id/eprint/141256/ https://www.zora.uzh.ch/id/eprint/141256/1/Scholz_et_al_2017__Explorative_results_from_multistep_screening_for_potential_genetic.pdf |
| Rights: | info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.2075F0AF |
| قاعدة البيانات: | BASE |
| تدمد: | 03009564 |
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