1. HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype‐stratified cohort study of hemochromatosis in Australian women
- Author
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Warne, Charles D, Zaloumis, Sophie G, Bertalli, Nadine A, Delatycki, Martin B, Nicoll, Amanda J, McLaren, Christine E, Hopper, John L, Giles, Graham G, Anderson, Greg J, Olynyk, John K, Powell, Lawrie W, Allen, Katrina J, Gurrin, Lyle C, and Investigators, for the HealthIron Study
- Subjects
Biomedical and Clinical Sciences ,Clinical Sciences ,Prevention ,Liver Disease ,Genetics ,Aging ,Contraception/Reproduction ,Hematology ,Digestive Diseases ,2.1 Biological and endogenous factors ,Aetiology ,Adult ,Aged ,Australia ,Cohort Studies ,Female ,Ferritins ,Genetic Predisposition to Disease ,Genotype ,Hemochromatosis ,Hemochromatosis Protein ,Homozygote ,Humans ,Menopause ,Middle Aged ,Mutation ,hereditary hemochromatosis ,HFE p ,C282Y homozygosity ,iron accumulation ,iron overload-related disease ,menopause ,women's health ,HealthIron Study Investigators ,HFE p.C282Y homozygosity ,Gastroenterology & Hepatology ,Clinical sciences - Abstract
Background and aimWomen 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.MethodsA sample of the Melbourne Collaborative Cohort Study was selected for the "HealthIron" study (n = 1438) including all HFE p.C282Y homozygotes plus a random sample stratified by HFE-genotype (p.C282Y and p.H63D). The relationship between the natural logarithm of SF and time since menopause was examined using linear mixed models incorporating spline smoothing.ResultsFor p.C282Y homozygotes, SF increased by a factor of 3.6 (95% CI (1.8, 7.0), P
- Published
- 2017