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  Comprehensive Research Synopsis and Systematic Meta-Analyses in ALS Genetics: The ALSGene Database (P01.095)

Lill, C. M., Meissner, E., Schjeide, L., Schjeide, B. M., Liebsch, M., Roehr, C., et al. (2012). Comprehensive Research Synopsis and Systematic Meta-Analyses in ALS Genetics: The ALSGene Database (P01.095). Neurology, 78. doi: 10.1212/WNL.78.1_MeetingAbstracts.P01.095.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F064-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-F065-9
Genre: Conference Paper

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 Creators:
Lill, Christina M.1, Author              
Meissner, Esther1, Author              
Schjeide, Leif2, Author              
Schjeide, Brit Maren1, Author              
Liebsch, Maria1, Author              
Roehr, Christina3, Author              
Rouleau, Guy4, Author
Hardiman, Orla5, Author
Traynor, Bryan6, Author
Van den Berg, Leonard7, Author
Al-Chalabi, Ammar8, Author
Bertram, Lars1, Author              
Affiliations:
1Neuropsychiatric Genetics (Lars Bertram), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479655              
2Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              
3Cancer Genomics (Michal-Ruth Schweiger), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479649              
4 CHUM Research Centre Montreal, QC Canada, ou_persistent22              
5 Trinity College & Beaumont Hospital , Dublin Ireland, ou_persistent22              
6National Institute on Aging, Bethesda MD , ou_persistent22              
7Rudolf Magnus Institute, Utrecht Netherlands, ou_persistent22              
8King's College, London United Kingdom, ou_persistent22              

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 Abstract: Objective: To facilitate interpretation of genetic association findings in amyotrophic lateral sclerosis (ALS) by creating a freely publicly available database aimed to serve as a comprehensive, unbiased, and regularly updated resource of genetic association studies in the field. Background ALS is a genetically complex and heterogeneous disorder. To date, mutations in several genes have been identified to cause familial forms of ALS. On the other hand, ALS without obvious familial aggregation is likely governed by a variety of genetic and non-genetic risk factors. In the past two decades, hundreds of reports, including several genome-wide association studies (GWAS), have been published claiming or refuting genetic association between certain genetic variants and susceptibility for ALS. Design/Methods: Using methodology developed earlier by our group (e.g. Bertram [2007] Nat Genet 39(1):17-23), database curation is currently ongoing and entails identifying and annotating published genetic association studies following systematic searches of scientific literature databases. Extracted data includes characteristics of the investigated populations as well as variant-specific results and genotyping details. In addition, we are in the process of including the results of several published GWAS derived from both observed and imputed genotype data. Up-to-date meta-analyses are presented for polymorphisms with data available in at least four independent case-control samples. Additional features of ALSGene will include the possibility to create custom meta-analyses (e.g. using existing or novel data), and an "ALSGene-Wiki" section (linking information on the potential molecular genetic and functional role of associated polymorphisms). Results: All data and results in ALSGene are freely available at www.alsgene.org. At the meeting, we will provide a detailed summary of the current "Top Results" including their potential relevance to ALS pathogenesis. Conclusions: Our systematic approach not only provides the most comprehensive account of non-Mendelian ALS genetics, but will also help prioritize future fine-mapping and functional genetic experiments.

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Language(s): eng - English
 Dates: 2012-04-22
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
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Title: Neurology
Source Genre: Journal
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Publ. Info: Cleveland, Ohio [etc.] : Advanstar Communications [etc.]
Pages: - Volume / Issue: 78 Sequence Number: - Start / End Page: - Identifier: ISSN: 0028-3878
CoNE: https://pure.mpg.de/cone/journals/resource/954925246073