Methods to Address Population Stratification in Studies of Rare Genetic Variation

• Activity Number: 591
• Type: Invited
• Date/Time: Thursday, August 4, 2011 : 8:30 AM to 10:20 AM
• Sponsor: Section on Statistics in Epidemiology
• Author(s): Michael Epstein*+
• Companies: Emory University
• Keywords: missing heritability ; population stratification ; rare variation ; case-control study

Abstract

Recent advances in next-generation sequencing technology has enabled investigation of the role of rare genetic variation in the origins of complex diseases. A variety of statistical methods have been developed to investigate whether groups of rare variants within a candidate region influence disease. However, many such methods explicitly assume a homogeneous sample and are unable to correct for potential confounding due to population stratification. Such confounding is known to affect the validity of tests of common genetic variation. In this talk, we examine the impact of population stratification on statistical tests of rare genetic variation and discuss appropriate techniques to correct for such confounding when it exists within a sample. We illustrate methods using both simulated data as well as real data from existing genetic studies of rare variation.