The goal of genetic epidemiology is to study the genetic etiology of diseases. There were t\vo main aims for the present thesis. The first aim was to study the effects of the hemochromatosis gene (HFE) mutations on serum iron levels and disease associated conditions. Secondly, we aimed at identifYing other genes involved in hemochromatosis. Numerous studies have been carried out on the genetics and epidemiology of hemochromatosis. Still there is a lot of controversies in the literature as to what the contributions of HFE gene mutations are to liver diseases, diabetes mellitus, and vascular pathology. Most controversies are due to differences in study designs, casedefinition of hemochromatosis, ethnic composition of populations studied, risk modifiers, and genetic heterogeneity. In order to translate the results of genetic research into public health policies, population-based studies are necessary to evaluate the impact of the gene on risk of disease, mortality and quality of life. In this thesis, we have used a population-based cohort study of elderly individuals, the Rotterdam Study, to quantifY the effect of HFE mutations on several disorders. Further, a genomic screen was carried out in a family with an autosomal dominant form of hereditary hemochromatosis from a genetically isolated community in the south-west of The Netherlands. This chapter focuses on the main findings of this thesis and their relevance. Chapter 5.2 discusses the findings of population-based studies of HFE and the genome screen. Some methodological issues as well as suggestions for future research are embedded. In chapter 5.3, future perspectives and final remarks are given.

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The work presented in this thesis was conducted at the Genetic Epidemiology Unit, Departments of Epidemiology & Biostatistics and Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands. This work received financial support from The Netherlands Organisation for Scientific Research (NWO), the NESTOR stimulation programme for geriatric research in The Netherlands (Ministry of Health, Welfare and Sports and Ministry of Education), the Dutch diabetes foundation (DFN) and The Municipality of Rotterdam. The special contributions of the Netherlands Institute for Health Sciences (NIHES) and the Netherlands University Foundation for International Co-operation (NUFFIC) are gratefully acknowledged.
A. Hofman (Albert) , C.M. van Duijn (Cornelia)
Erasmus University Rotterdam
Erasmus MC: University Medical Center Rotterdam

Njajou, O. (2002, June 26). A genetic epidemiologic study of hemochromatosis. Retrieved from