Related Experiment Video
Updated: Mar 30, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Phenotypic variance explained by local ancestry in admixed African Americans
Daniel Shriner1, Amy R Bentley1, Ayo P Doumatey1
1Center for Research on Genomics and Global Health, National Human Genome Research Institute Bethesda, MD, USA.
Local ancestry explains significant phenotypic variance in African Americans, up to 20% for major genes. This impacts understanding genetic risk factors and association study accuracy.
Area of Science:
- Population Genetics
- Human Genetics
- Genomics
Background:
- Admixed populations like African Americans have complex genetic ancestry.
- Understanding the genetic basis of phenotypic variation is crucial for health research.
Purpose of the Study:
- To quantify the proportion of phenotypic variance explained by local ancestry in African Americans.
- To assess the impact of local ancestry on genetic risk factors and association studies.
Main Methods:
- Inferred local ancestry across the genome in African Americans.
- Utilized linear mixed effects models to estimate variance explained by local ancestry.
- Analyzed 26 quantitative traits and disease outcomes in two independent samples.
Main Results:
- Local ancestry explained up to 20% of phenotypic variance at major effect genes.
- Local ancestry explained up to 8% of phenotypic variance for polygenic effects.
- Found that most additive genetic variance is captured by ancestry-undifferentiated markers.
Conclusions:
- Local ancestry is a significant contributor to phenotypic variation in African Americans.
- Results inform the genetic contribution to health disparities and potential biases in genetic association studies.
- Highlights the importance of considering local ancestry in genetic research within admixed populations.
Related Concept Videos
Principles of Pharmacogenetics: Types of Genetic Variants
Genetic Variation
Genes exist in different versions called alleles,...
Multiple Allele Traits
Multiple Allele Traits
Heritability
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

