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Ancestry Informative Marker Panel to Estimate Population Stratification Using Genome-wide Human Array.

Fernanda B Barbosa1, Natalia F Cagnin1, Milena Simioni2

  • 1Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Brazil.

Annals of Human Genetics
|September 13, 2017
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Summary
This summary is machine-generated.

This study developed a set of 345 ancestry informative markers (AIMs) to accurately assess population stratification in Brazilian genetic studies. The AIMs panel helps to avoid spurious genetic associations in complex disease research.

Keywords:
AIMsCytoscan HD arrayadmixed populationcase-control studiessystemic lupus erythematosus

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Area of Science:

  • Genetics
  • Population Genetics
  • Genomic Epidemiology

Background:

  • Case-control studies are vital for identifying genes linked to complex diseases.
  • Population stratification in admixed populations can cause false genetic associations.
  • Ancestry informative markers (AIMs) are crucial for mitigating stratification effects.

Purpose of the Study:

  • To select and validate a panel of AIMs for estimating population stratification in a Brazilian case-control study.
  • To assess population substructure in patients with systemic lupus erythematosus (SLE) and healthy controls.

Main Methods:

  • Utilized 345 single nucleotide polymorphism (SNP) AIMs from the Cytoscan HD array.
  • Inferred ancestry in 23 SLE patients and 110 healthy subjects.
  • Validated the AIMs panel using a smaller set of 12 AIMs and ~70K SNPs.

Main Results:

  • Observed moderate population substructure (Fst = 0.0113) between SLE patients and controls.
  • Detected significant differences in European and African ancestry proportions between groups.
  • The 345 SNP-AIMs panel effectively estimated ancestral contributions.

Conclusions:

  • The developed 345 SNP-AIMs panel is effective for evaluating population substructure in Brazilian case-control studies.
  • This panel can help prevent spurious genetic associations in complex disease research.
  • Accurate ancestry estimation is essential for reliable genetic association studies in admixed populations.