Haplotype Structure and Pharmacogenomics

Department of Molecular Physiology and Biological Physics, University of Virginia Health Sciences Center, Charlottesville, Virginia, U.S.A. 

Jude Children s Research Hospital, Colleges of Pharmacy and Medicine, University of Tennessee, Memphis, Tennessee, U.S.A. 

Genome locations are referred to as polymorphic if they are present in the population at a frequency of at least 1%. The results of polymorphism from a genetic standpoint are twofold. First, because the human genome is polymorphic at numerous locations, any two individuals are genetically different at some of these polymorphic nucleotides (i.e., they have different 

Because common SNPs are phylogenetically older than rare SNPs, they have arisen from recombination events of ancestral haplotypes (3). Focusing on these common SNPs will thus allow reconstruction of these ancestral haplotypes so that human evolutionary history can be traced. Most important, however, is the fact that using common SNPs to map the structure of human haplotypes will allow identification of haplotypes that constitute the majority (perhaps as much as 90%) of human variation and hence will be the most informative source available for disease and pharmacogenomic association studies. 

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