Imputation of missing genotypes in genetic association studies of genes of iron metabolism and disease features in hereditary haemochromatosis

Abstract

© 2014 Dr. Lidija TurkovicOne of the aims of my doctoral work is to investigate different methods of multiple imputation in genetic association studies of unrelated individuals using simulation and data from HealthIron study. HealthIron project has generated two types of genetic data. Firstly re-sequenced exonic regions of twelve candidate genes of iron metabolism in a random sample of 94 C282Y homozygotes and 94 randomly chosen individuals unselected for HFE genotype. Secondly, SNP genotyping in all HealthIron participants who provided a blood sample (n=865) providing a broad coverage of 35 genes. Different techniques of multiple imputation will be used to impute SNP genotypes in individuals without re-sequencing data.The goal of these analyses is to determine if the accuracy of the calculated measures of association can be improved by filling in missing genotype while appropriately accounting for the uncertainty in imputation. Imputed data will then be incorporated in association analyses of SNP genotypes and binary disease outcomes