Linkage disequilibrium sharing and haplotype-tagged SNP portability between populations

Proc Natl Acad Sci U S A. 2006 Jan 31;103(5):1418-21. doi: 10.1073/pnas.0510360103. Epub 2006 Jan 23.

Abstract

The discovery of the block-like structure of linkage disequilibrium (LD) in human populations holds the promise of delineating the etiology of common diseases. However, understanding the magnitude, mechanism, and utility of between-population LD sharing is critical for future genome-wide association studies. In this study, substantial LD sharing between six non-African populations was observed, although much less between African-American and non-African, based on 20,000 SNPs of chromosome 21. We also demonstrated the respective roles of recombination and demographic events in shaping LD sharing. Furthermore, we showed that the haplotype-tagged SNPs chosen from one population are portable to the others in East Asia. Therefore, we concluded that the magnitude of LD sharing between human populations justifies the use of representative populations for selecting haplotype-tagged SNPs in genome-wide association studies of complex diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa
  • Algorithms
  • Black People
  • Black or African American
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21
  • Gene Frequency
  • Genetic Variation
  • Genetics, Population
  • Genome
  • Genotype
  • Haplotypes*
  • Humans
  • Linkage Disequilibrium*
  • Models, Genetic
  • Models, Statistical
  • Models, Theoretical
  • Polymorphism, Single Nucleotide*