Linkage disequilibrium maps and disease-association mapping
Linkage disequilibrium maps and disease-association mapping
Over the last few years, association mapping of disease genes has developed into one of the most dynamic research areas of human genetics. It focuses on identifying functional polymorphisms that predispose to complex diseases. Population-based approaches are concerned with exploiting linkage disequilibrium (LD) between single-nucleotide polymorphism (SNPs) and disease-predisposing loci. The utility of SNPs in association mapping is now well established and the interest in this field has been escalated by the discovery of millions of SNPs across the genome. This chapter reviews an association-mapping method that utilizes metric LD maps in LD units and employs a composite likelihood approach to combine information from all single SNP tests. It applies a model that incorporates a parameter for the location of the causal polymorphism. A proof-of-principle application of this method to a small region is given and its potential properties to large-scale datasets are discussed.
association mapping, linkage disequilibrium, ldu, single snps, cyp2d6
9781588296696
109-121
Maniatis, Nikolas
369fb005-aae0-4243-807b-b42af088debd
5 February 2008
Maniatis, Nikolas
369fb005-aae0-4243-807b-b42af088debd
Maniatis, Nikolas
(2008)
Linkage disequilibrium maps and disease-association mapping.
In,
Collins, Andrew R.
(ed.)
Linkage Disequilibrium and Association Mapping: Analysis and Applications.
(Methods in Molecular Biology, 376)
Totowa, USA.
Humana, .
(doi:10.1007/978-1-59745-389-9_8).
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Book Section
Abstract
Over the last few years, association mapping of disease genes has developed into one of the most dynamic research areas of human genetics. It focuses on identifying functional polymorphisms that predispose to complex diseases. Population-based approaches are concerned with exploiting linkage disequilibrium (LD) between single-nucleotide polymorphism (SNPs) and disease-predisposing loci. The utility of SNPs in association mapping is now well established and the interest in this field has been escalated by the discovery of millions of SNPs across the genome. This chapter reviews an association-mapping method that utilizes metric LD maps in LD units and employs a composite likelihood approach to combine information from all single SNP tests. It applies a model that incorporates a parameter for the location of the causal polymorphism. A proof-of-principle application of this method to a small region is given and its potential properties to large-scale datasets are discussed.
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Published date: 5 February 2008
Additional Information:
ISSN 1064-3745
Keywords:
association mapping, linkage disequilibrium, ldu, single snps, cyp2d6
Identifiers
Local EPrints ID: 60022
URI: http://eprints.soton.ac.uk/id/eprint/60022
ISBN: 9781588296696
PURE UUID: b63fc10e-a7d0-41bb-a6f7-e3cfdfa98535
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Date deposited: 07 Oct 2008
Last modified: 15 Mar 2024 11:18
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Author:
Nikolas Maniatis
Editor:
Andrew R. Collins
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