Patterns of linkage disequilibrium in the human genome

Nat Rev Genet. 2002 Apr;3(4):299-309. doi: 10.1038/nrg777.


Particular alleles at neighbouring loci tend to be co-inherited. For tightly linked loci, this might lead to associations between alleles in the population a property known as linkage disequilibrium (LD). LD has recently become the focus of intense study in the hope that it might facilitate the mapping of complex disease loci through whole-genome association studies. This approach depends crucially on the patterns of LD in the human genome. In this review, we draw on empirical studies in humans and Drosophila, as well as simulation studies, to assess the current state of knowledge about patterns of LD, and consider the implications for the use of LD as a mapping tool.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Chromosome Mapping
  • Demography
  • Drosophila / genetics
  • Genetics, Population
  • Genome, Human*
  • Haplotypes
  • Humans
  • Linkage Disequilibrium*
  • Pattern Recognition, Automated
  • Polymorphism, Single Nucleotide