2008/10/13 by Chaowei Tian, Peter K. Gregersen, Michael F. Seldin · 1 citation
Biochemistry, Genetics and Molecular Biology · #Allele frequency #Ancestry-informative marker #Biology #Confounding #Demography #Evolutionary biology #Gene #Genetic Associations and Epidemiology #Genetic Mapping and Diversity in Plants and Animals #Genetic and phenotypic traits in livestock #Genetic association #Genetic genealogy #Genetic variation #Genetics #Genome-wide association study #Genotype #Population #Population stratification #Single-nucleotide polymorphism #Statistics
paper · pdf · doi:10.1093/hmg/ddn268
openalex publication_date 2008/10/13 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/06
Accounting for the genetic substructure of human populations has become a major practical issue for studying complex genetic disorders. Allele frequency differences among ethnic groups and subgroups and admixture between different ethnic groups can result in frequent false-positive results or reduced power in genetic studies. Here, we review the problems and progress in defining population differences and the application of statistical methods to improve association studies. It is now possible to take into account the confounding effects of population stratification using thousands of unselected genome-wide single-nucleotide polymorphisms or, alternatively, selected panels of ancestry informative markers. These methods do not require any demographic information and therefore can be widely applied to genotypes available from multiple sources. We further suggest that it will be important to explore results in homogeneous population subsets as we seek to define the extent to which genomic variation influences complex phenotypes.