Testing for genetic associations in arbitrarily structured populations. Author Minsun Song, Wei Hao, John Storey Publication Year 2015 Type Journal Article Abstract We present a new statistical test of association between a trait and genetic markers, which we theoretically and practically prove to be robust to arbitrarily complex population structure. The statistical test involves a set of parameters that can be directly estimated from large-scale genotyping data, such as those measured in genome-wide association studies (GWAS). We also derive a new set of methodologies, called a 'genotype-conditional association test' (GCAT), shown to provide accurate association tests in populations with complex structures, manifested in both the genetic and non-genetic contributions to the trait. We demonstrate the proposed method on a large simulation study and on the Northern Finland Birth Cohort study. In the Finland study, we identify several new significant loci that other methods do not detect. Our proposed framework provides a substantially different approach to the problem from existing methods, such as the linear mixed-model and principal-component approaches. Keywords Humans, Models, Genetic, Computer Simulation, Principal Component Analysis, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Linear Models Journal Nat Genet Volume 47 Issue 5 Pages 550-4 Date Published 2015 May ISSN Number 1546-1718 DOI 10.1038/ng.3244 Alternate Journal Nat Genet PMCID PMC4464830 PMID 25822090 PubMedPubMed CentralGoogle ScholarBibTeXEndNote X3 XML