Journal article

HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women

Charles D Warne, Sophie G Zaloumis, Nadine A Bertalli, Martin B Delatycki, Amanda J Nicoll, Christine E McLaren, John L Hopper, Graham G Giles, Greg J Anderson, John K Olynyk, Lawrie W Powell, Katrina J Allen, Lyle C Gurrin

JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY | WILEY | Published : 2017

Abstract

BACKGROUND AND AIM: Women who are homozygous for the p.C282Y mutation in the HFE gene are at much lower risk of iron overload-related disease than p.C282Y homozygous men, presumably because of the iron-depleting effects of menstruation and pregnancy. We used data from a population cohort study to model the impact of menstruation cessation at menopause on serum ferritin (SF) levels in female p.C282Y homozygotes, with p.C282Y/p.H63D simple or compound heterozygotes and those with neither p.C282Y nor p.H63D mutations (HFE wild types) as comparison groups. METHODS: A sample of the Melbourne Collaborative Cohort Study was selected for the "HealthIron" study (n = 1438) including all HFE p.C282Y ho..

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Grants

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


Awarded by National Health and Medical Research Council (Australia)


Awarded by NATIONAL CANCER INSTITUTE


Awarded by NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES


Funding Acknowledgements

This study was funded by National Institute of Diabetes, Digestive and Kidney Diseases (US) (1 RO1 DK061885-01 A2), National Health and Medical Research Council (Australia) (Grants No. 251668, 209057). Cohort recruitment was funded by VicHealth and The Cancer Council Victoria. The NHMRC provided funding support for the following authors: LCG, KJA, MBD, JKO, GJA, and JLH. 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 MCS 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 continued 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.