Linkage Disequilibrium and Association Mapping

Volume 376 of the series Methods in Molecular Biology™ pp 109-121

Linkage Disequilibrium Maps and Disease-Association Mapping

  • Nikolas ManiatisAffiliated withGenetic Epidemiology and Bioinformatics Group, Human Genetics Division, Southampton General Hospital

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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.

Key Words

Association mapping linkage disequilibrium LDU single SNPs CYP2D6