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Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease
Karolinska Institutet.
KTH, Skolan för bioteknologi (BIO), Genteknologi.
Karolinska Institutet.
Karolinska Institutet.
Visa övriga samt affilieringar
2008 (Engelska)Ingår i: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 16, nr 2, s. 202-208Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Alzheimer's disease (AD) is a neurodegenerative disease that affects approximately 20 million persons all over the world. There are both sporadic and familial forms of AD. We have previously reported a genome-wide linkage analysis on 71 Swedish AD families using 365 genotyped microsatellite markers. In this study, we increased the number of individuals included in the original 71 analysed families besides adding 38 new families. These 109 families were genotyped for 1100 novel microsatellite markers. The present study reports on the linkage data generated from the non-overlapping genotypes from the first genome scan and the genotypes of the present scan, which results in a total of 1289 successfully genotyped markers at an average density of 2.85 cM on 468 individuals from 109 AD families. Non-parametric linkage analysis yielded a significant multipoint LOD score in chromosome 19q13, the region harbouring the major susceptibility gene APOE, both for the whole set of families (LOD = 5.0) and the APOE epsilon 4-positive subgroup made up of 63 families (LOD = 5.3). Other suggestive linkage peaks that were observed in the original genome scan of 71 Swedish AD families were not detected in this extended analysis, and the previously reported linkage signals in chromosomes 9, 10 and 12 were not replicated.

Ort, förlag, år, upplaga, sidor
2008. Vol. 16, nr 2, s. 202-208
Nyckelord [en]
linkage analysis; familial dementia; APOE; Alzheimer's disease; genome scan; lod score
Nationell ämneskategori
Industriell bioteknik
Identifikatorer
URN: urn:nbn:se:kth:diva-7798DOI: 10.1038/sj.ejhg.5201946ISI: 000252426500011PubMedID: 17957224Scopus ID: 2-s2.0-38349170135OAI: oai:DiVA.org:kth-7798DiVA, id: diva2:12927
Anmärkning
QC 20100622Tillgänglig från: 2007-12-10 Skapad: 2007-12-10 Senast uppdaterad: 2022-06-26Bibliografiskt granskad
Ingår i avhandling
1. Grid and High-Performance Computing for Applied Bioinformatics
Öppna denna publikation i ny flik eller fönster >>Grid and High-Performance Computing for Applied Bioinformatics
2007 (Engelska)Doktorsavhandling, sammanläggning (Övrigt vetenskapligt)
Abstract [en]

The beginning of the twenty-first century has been characterized by an explosion of biological information. The avalanche of data grows daily and arises as a consequence of advances in the fields of molecular biology and genomics and proteomics. The challenge for nowadays biologist lies in the de-codification of this huge and complex data, in order to achieve a better understanding of how our genes shape who we are, how our genome evolved, and how we function.

Without the annotation and data mining, the information provided by for example high throughput genomic sequencing projects is not very useful. Bioinformatics is the application of computer science and technology to the management and analysis of biological data, in an effort to address biological questions. The work presented in this thesis has focused on the use of Grid and High Performance Computing for solving computationally expensive bioinformatics tasks, where, due to the very large amount of available data and the complexity of the tasks, new solutions are required for efficient data analysis and interpretation.

Three major research topics are addressed; First, the use of grids for distributing the execution of sequence based proteomic analysis, its application in optimal epitope selection and in a proteome-wide effort to map the linear epitopes in the human proteome. Second, the application of grid technology in genetic association studies, which enabled the analysis of thousand of simulated genotypes, and finally the development and application of a economic based model for grid-job scheduling and resource administration.

The applications of the grid based technology developed in the present investigation, results in successfully tagging and linking chromosomes regions in Alzheimer disease, proteome-wide mapping of the linear epitopes, and the development of a Market-Based Resource Allocation in Grid for Scientific Applications.

Ort, förlag, år, upplaga, sidor
Stockholm: KTH, 2007
Serie
Trita-BIO-Report, ISSN 1654-2312 ; 2007:9
Nyckelord
Grid computing, bioinformatics, genomics, proteomics
Nationell ämneskategori
Bioinformatik (beräkningsbiologi)
Identifikatorer
urn:nbn:se:kth:diva-4573 (URN)978-91-7178-782-8 (ISBN)
Disputation
2007-12-21, FD5, AlbaNova, oslagstullsbacken 21, Stockholm, 10:00
Opponent
Handledare
Anmärkning
QC 20100622Tillgänglig från: 2007-12-10 Skapad: 2007-12-10 Senast uppdaterad: 2022-06-26Bibliografiskt granskad

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