Journal article

Natural history of HFE simple heterozygosity for C282Y and H63D: A prospective 12-year study

Sophie G Zaloumis, Katrina J Allen, Nadine A Bertalli, Lidija Turkovic, Martin B Delatycki, Amanda J Nicoll, Christine E McLaren, Dallas R English, John L Hopper, Graham G Giles, Gregory J Anderson, John K Olynyk, Lawrie W Powell, Lyle C Gurrin

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY | WILEY | Published : 2015

Abstract

BACKGROUND AND AIM: The risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or H63D substitutions in the HFE protein was assessed using a prospective community-based cohort study. METHODS: HFE genotypes were measured for 31,192 persons of northern European descent, aged between 40 and 69 years when recruited to the Melbourne Collaborative Cohort Study, and subjects were followed for an average of 12 years. For a random sample of 1438 participants stratified according to HFE genotype, two sets of biochemical iron indices performed 12 years apart and, at follow-up only, the presence/absence of six disease features associated with hereditary hemochromato..

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Grants

Awarded by National Institute of Diabetes, Digestive and Kidney Diseases (US)


Awarded by National Health and Medical Research Council (NHMRC; Australia)


Awarded by NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES


Funding Acknowledgements

This study was funded by the National Institute of Diabetes, Digestive and Kidney Diseases (US) (1 RO1 DK061885-01 A2), and National Health and Medical Research Council (NHMRC; Australia) (Grants no. 251668, 209057). Cohort recruitment was funded by VicHealth and The Cancer Council Victoria. The NHMRC provided funding for the following authors: L. C. G. and K. J. A. (Career Development Fellowship), M. B. D. and J. K. O. (Practitioner Fellowship), Prof. Melissa C. Southey and G. J. A. (Senior Research Fellowship), and J. L. H. (Australia Fellowship). Dr Sue Forrest from the Australian Genome Research Facility, Melbourne, supervised HFE genotyping of the cohort samples performed at the Australian Genome Research Facility. Andrea A. Tesoriero with Prof. Melissa C. Southey supervised DNA extraction. Ashley Fletcher provided assistance with study coordination and sample retrieval. This study was made possible by the contribution of many people, including the original investigators and the diligent team who recruited the participants and who continue working on follow-up. Finally, we would like to express our gratitude to the many thousands of Melbourne residents who continue to participate in the study.