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Admixture mapping comes of age.

Cheryl A Winkler1, George W Nelson, Michael W Smith

  • 1Basic Science Program, SAIC-Frederick, Inc., Laboratory of Genomic Diversity, National Cancer Institute-Frederick, Frederick, MD 21702, USA. winklerc@mail.nih.gov

Annual Review of Genomics and Human Genetics
|July 3, 2010
PubMed
Summary

Admixture mapping identifies disease-related genetic variants in admixed populations by analyzing ancestry-informative markers (AIMs). This method, now feasible with new technology, has revealed genetic bases for various diseases.

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Area of Science:

  • Genetics
  • Population Genetics
  • Genomic Medicine

Background:

  • Admixture mapping leverages differing disease rates between populations, attributing them partly to genetic variant frequencies.
  • In admixed groups, disease-associated variants are more prevalent on segments from ancestral populations with higher variant frequencies.

Purpose of the Study:

  • To provide a historical overview of admixture mapping.
  • To review available ancestry-informative marker (AIM) panels and software.
  • To discuss recent advancements and findings in admixture mapping studies.

Main Methods:

  • Utilizing a genome scan with 1,500-2,500 ancestry-informative markers (AIMs) for recently admixed populations.
  • Applying statistical methods developed over the last few decades.
  • Analyzing chromosome segments inherited from ancestral populations.

Main Results:

  • Admixture mapping has successfully identified genetic underpinnings for various diseases and traits since its first application in 2005.
  • The availability of AIM panels and statistical tools has made this method practical.
  • The technique has yielded unexpected insights into human diseases with population-specific prevalence.

Conclusions:

  • Admixture mapping is a powerful tool for dissecting the genetic architecture of diseases with disparate population rates.
  • Technological advancements have enabled the successful application of this long-standing hypothesis.
  • Continued research using admixture mapping promises further discoveries in human genetics and disease etiology.