Allelic Association: Linkage Disequilibrium Structure and Gene Mapping

The linkage disequilibrium (LD) structure of the human genome is now well understood and characterised for a number of human populations. The LD structure underpins the design and execution of candidate gene and genome-wide association mapping studies. Successful association mapping studies completed to date provide vital new insights into the genetic influences on common diseases, such as diabetes, some cancers and heart disease. The LD structure also presents new avenues of research into the genetic history of human populations, the effects of natural selection and the impact of recombination on the genomic landscape. This review introduces this exciting and complex field by encompassing this range of topics.