Linkage disequilibrium patterns of the human genome across populations

Sagiv Shifman, Jane Kuypers, Mark Kokoris, Benjamin Yakir, Ariel Darvasi*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

161 Scopus citations

Abstract

We studied the patterns of linkage disequilibrium (LD) in the human genome among three populations: African Americans, Caucasians and Ashkenazi Jews. These three populations represent admixed, outbred and isolated populations, respectively. The study examined defined chromosomal regions across the whole genome. We found that SNP allele frequencies are highly correlated between Ashkenazi Jews and Caucasians and somewhat distinct in African Americans. In addition, Ashkenazi Jews have a modest increase in LD compared with Caucasians, and both have greater LD than African Americans. The three populations differed more significantly with regard to haplotype heterogeneity. We found, as expected, that Ashkenazi Jews display the greatest extent of homogeneity and African Americans the greatest extent of heterogeneity. We found that most of the variance in LD can be attributed to the difference between regions and markers rather than to that between different population types. The average recombination rates estimated by low-resolution genetic maps can only explain a small fraction of the variance between regions. We found that LD (in terms of r2) decreases as a function of distance even within the so-called 'haplotype blocks'. This has significant consequences when using LD mapping for the genetic dissection of complex traits, as higher density SNP maps will be required to scan the genome.

Original languageAmerican English
Pages (from-to)771-776
Number of pages6
JournalHuman Molecular Genetics
Volume12
Issue number7
DOIs
StatePublished - 1 Apr 2003

Fingerprint

Dive into the research topics of 'Linkage disequilibrium patterns of the human genome across populations'. Together they form a unique fingerprint.

Cite this