Efficiency and power in genetic association studies

摘要: We investigated selection and analysis of tag SNPs for genome-wide association studies by specifically examining the relationship between investment in genotyping statistical power. Do pairwise or multimarker methods maximize efficiency power? To what extent is power compromised when tags are selected from an incomplete resource such as HapMap? addressed these questions using genotype data HapMap ENCODE project, simulated under a realistic disease model, empirical correction multiple hypothesis testing. demonstrate haplotype-based tagging method that uniformly outperforms single-marker tests prioritization markedly increase efficiency. Examining all observed haplotypes association, rather than just those proxies known SNPs, increases to detect rare causal alleles, at cost reduced common alleles. Power robust completeness reference panel which selected. These findings have implications prioritizing interpreting studies.