Format

Send to

Choose Destination
Am J Hum Genet. 2001 Jul;69(1):1-14. Epub 2001 Jun 14.

Linkage disequilibrium in humans: models and data.

Author information

1
Department of Statistics, University of Oxford, Oxford, OX1-3TG, England. pritch@stats.ox.ac.uk

Abstract

In this review, we describe recent empirical and theoretical work on the extent of linkage disequilibrium (LD) in the human genome, comparing the predictions of simple population-genetic models to available data. Several studies report significant LD over distances longer than those predicted by standard models, whereas some data from short, intergenic regions show less LD than would be expected. The apparent discrepancies between theory and data present a challenge-both to modelers and to human geneticists-to identify which important features are missing from our understanding of the biological processes that give rise to LD. Salient features may include demographic complications such as recent admixture, as well as genetic factors such as local variation in recombination rates, gene conversion, and the potential segregation of inversions. We also outline some implications that the emerging patterns of LD have for association-mapping strategies. In particular, we discuss what marker densities might be necessary for genomewide association scans.

PMID:
11410837
PMCID:
PMC1226024
DOI:
10.1086/321275
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center