Characterizing patterns of genetic variation

Abstract

The efforts of the Human Genome Project have resulted in, among other things, the identification and mapping of hundreds of thousands of anonymous single nucleotide polymorphisms (SNPs) for use in genome-wide association studies. The successful application of SNP maps to finding genes that underlie common diseases and drug responses depends, in part, on the extent of linkage disequilibrium (LD) in the population under study. Linkage disequilibrium, or correlation between polymorphisms located in close proximity to each other, allows anonymous polymorphisms throughout the entire genome to be tested for their association with disease and/or drug response. Through LD, these anonymous SNPs can pinpoint genomic regions that might harbor the true, causative genetic variants that underlie the association with disease and drug response. Until recently, the extent of LD, or distance over which two genetic variants could be separated and still be correlated, was poorly understood and the feasibility of such LD mapping approaches uncertain.