----------------------------------------------------------------------- BIOINFORMATICS COLLOQUIUM College of Science George Mason University ----------------------------------------------------------------------- Efficient Analysis of Associations between Haplotypes and Quantitative Traits in Family Studies Guoqing Diao George Mason University Abstract: The associations between haplotypes and quantitative traits provide valuable information about the genetic basis of complex human diseases. Two major challenges arise in haplotype association analysis in family studies. First, the haplotype phases may not be determined with certainty from the genotype data. Second, the trait values within a family tend to be correlated because of common genetic and environmental factors. We present an efficient likelihood-based approach to investigating the associations between haplotypes and quantitative traits. This approach accounts for within-family trait correlations and can handle arbitrary pedigrees with missing genotypes. We characterize the effects of haplotypes on quantitative traits by regression models with random effects and derive appropriate likelihood functions. We develop efficient numerical algorithms to implement the corresponding likelihood-based methods. Extensive simulation studies showed that the proposed methods perform well in realistic situations. An application to family data from the Childhood Asthma Management Program Ancillary Genetic Study is provided. A computer program is freely available.