Estimating and adjusting for ancestry admixture in statistical methods for relatedness inference, heritability estimation, and association testing

BMC Proceedings

Proceedings

Matthew P Conomos¹  Charles YK Cheung¹  Timothy Thornton¹  Ellen M Wijsman²  Elizabeth M Blue³  Steven M Lewis⁴  Christopher G Glazner⁴  Serge Sverdlov⁴ 

[1] Department of Biostatistics, University of Washington, 98195, Seattle, WA, USA;Department of Biostatistics, University of Washington, 98195, Seattle, WA, USA;Department of Medicine, Division of Medical Genetics, University of Washington, Box 357720, Health Sciences Building, K-253, 98195, Seattle, WA, USA;Department of Medicine, Division of Medical Genetics, University of Washington, Box 357720, Health Sciences Building, K-253, 98195, Seattle, WA, USA;Department of Statistics, University of Washington, 313 Padelford Hall, 98195, Seattle, WA, USA;

关键词: African Ancestry;    Kinship Coefficient;    Admix Population;    Individual Ancestry;    Native American Ancestry;   

DOI  :  10.1186/1753-6561-8-S1-S5

来源: Springer

【 摘 要 】

It is well known that genetic association studies are not robust to population stratification. Two widely used approaches for the detection and correction of population structure are principal component analysis and model-based estimation of ancestry. These methods have been shown to give reliable inference on population structure in unrelated samples. We evaluated these two approaches in Mexican American pedigrees provided by the Genetic Analysis Workshop 18. We also estimated identity-by-descent sharing probabilities and kinship coefficients, with adjustment for ancestry admixture, to confirm documented pedigree relationships as well as to identify cryptic relatedness in the sample. We also estimated the heritability of the first simulated replicate of diastolic blood pressure (DBP). Finally, we performed an association analysis with simulated DBP, comparing the performance of an association method that corrects for population structure but does not account for relatedness to a method that adjusts for both population and pedigree structure. Analyses with simulated DBP were performed with knowledge of the underlying trait model.

【 授权许可】

CC BY   
© Thornton et al.; licensee BioMed Central Ltd. 2014