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Association Testing in Related Individuals

Family data is correlated that could lead to inflation in test statistics if not accounted for. Many genetic studies contain related individuals. Family-based studies were developed to avoid bias due to population structure; Biological family members are genetically matched.

Most behavioral and environmental factors do not alter DNA, so SNP associations are unlikely to be confounded EXCEPT confounding by ancestry.

Population Stratification Bias

  • For case control studies, population structure means bad matching; cases and controls come from different genetic populations.
  • For cohort/cross-sectional studies with quantitative phenotypes, if the phenotype and genotype distributions both differ by population then population stratification bias can occur.

 

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