Genetic Modifiers of Hemochromatosis

Grant number: 1 R01 DK061885-01A2

Completed

Abstract

DESCRIPTION (provided by applicant): Hereditary hemochromatosis (HH) is a common disorder of iron overload and over 80% of patients are homozygous for the C282Y mutation in the HFE gene. Clinical manifestations of HH vary widely from non-specific symptoms associated with mild iron overload to severe organ damage due to iron deposition in the liver, heart, joints and pancreas. Penetrance is age-dependent and it is estimated that only about half of all C282Y homozygotes will express clinical disease. A number of factors may modify expression of disease in HH and both genetic and environmental factors are potentially important. There are several promising candidate genes in the iron transport p..

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Related publications (11)

Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians

CE McLaren, WP Chen, NA Bertalli, MB Delatycki, GG Giles, DR English, JL Hopper, KJ Allen, LC Gurrin

2019-03-01

Homozygosity for the p.C282Y substitution in the HFE protein encoded by the hemochromatosis gene on chromosome 6p (HFE) is a commo..

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

CD Warne, SG Zaloumis, NA Bertalli, MB Delatycki, AJ Nicoll, CE McLaren, JL Hopper, GG Giles, GJ Anderson, JK Olynyk, LW Powell, KJ Allen, LC Gurrin, M Bahlo, AR Fletcher, SM Forrest, NJ Osborne, CD Vulpe, L Turkovic

2017-04-01

Background and Aim: Women who are homozygous for the p.C282Y mutation in the HFE gene are at much lower risk of iron overload-rela..

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

SG Zaloumis, KJ Allen, NA Bertalli, L Turkovic, MB Delatycki, AJ Nicoll, CE Mclaren, DR English, JL Hopper, GG Giles, GJ Anderson, JK Olynyk, LW Powell, LC Gurrin, M Bahlo, CD Vulpe, SM Forrest, AR Fletcher

2015-04-01

Background and Aim: The risk of hemochromatosis-related morbidity for HFE simple heterozygosity for either the C282Y or H63D subst..

A comparison of self-reported and record-linked blood donation history in an Australian cohort

NA Bertalli, KJ Allen, CE Mclaren, L Turkovic, NJ Osborne, CC Constantine, MB Delatycki, DR English, GG Giles, JL Hopper, GJ Anderson, JK Olynyk, LW Powell, LC Gurrin

2011-04-19

BACKGROUND: Questionnaire-based studies investigating blood donation history rely on the accurate recall of information from parti..

HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 μg/L are at low risk of hemochromatosis

KJ Allen, NA Bertalli, NJ Osborne, CC Constantine, MB Delatycki, AE Nisselle, AJ Nicoll, DM Gertig, CE McLaren, GG Giles, JL Hopper, GJ Anderson, JK Olynyk, LW Powell, LC Gurrin

2010-09-01

Hemochromatosis gene (HFE)-associated hereditary hemochromatosis (HH) is a genetic predisposition to iron overload and subsequent ..

HFE c282y homozygotes are at increased risk of breast and colorectal cancer

NJ Osborne, LC Gurrin, KJ Allen, CC Constantine, MB Delatycki, CE McLaren, DM Gertig, GJ Anderson, MC Southey, JK Olynyk, LW Powell, JL Hopper, GG Giles, DR English

2010-04-01

The evidence that mutations in the HFE gene for hemochromatosis are associated with increased cancer risk is inconsistent. The Mel..

HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity

LC Gurrin, NA Bertalli, GW Dalton, NJ Osborne, CC Constantine, CE McLaren, DR English, DM Gertig, MB Delatycki, AJ Nicoll, MC Southey, JL Hopper, GG Giles, GJ Anderson, JK Olynyk, LW Powell, KJ Allen

2009-11-25

The risk of hemochromatosis-related morbidity is unknown among HFE compound heterozygotes (C282Y/H63D). We used a prospective popu..

A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis

CC Constantine, GJ Anderson, CD Vulpe, CE McLaren, M Bahlo, HL Yeap, DM Gertig, NJ Osborne, NA Bertalli, KB Beckman, V Chen, P Matak, AT McKie, MB Delatycki, JK Olynyk, DR English, MC Southey, GG Giles, JL Hopper, KJ Allen

2009-10-01

There is emerging evidence that there are genetic modifiers of iron indices for HFE gene mutation carriers at risk of hereditary h..

SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis

CC Constantine, LC Gurrin, CE McLaren, M Bahlo, GJ Anderson, CD Vulpe, SM Forrest, KJ Allen, DM Gertig

2008-03-20

Background: We report our experience of selecting tag SNPs in 35 genes involved in iron metabolism in a cohort study seeking to di..

Iron-overload-related disease in HFE hereditary hemochromatosis

KJ Allen, LC Gurrin, CC Constantine, NJ Osborne, MB Delatycki, AJ Nicoll, CE McLaren, M Bahlo, AE Nisselle, CD Vulpe, GJ Anderson, MC Southey, GG Giles, DR English, JL Hopper, JK Olynyk, LW Powell, DM Gertig

2008-01-17

Background: Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, h..

The Natural History of Serum Iron Indices for HFE C282Y Homozygosity Associated With Hereditary Hemochromatosis

LC Gurrin, NJ Osborne, CC Constantine, CE McLaren, DR English, DM Gertig, MB Delatycki, MC Southey, JL Hopper, GG Giles, GJ Anderson, JK Olynyk, LW Powell, KJ Allen

2008-01-01

Background & Aims: There are few longitudinal studies of serum ferritin (SF) and transferrin saturation (TS) levels in individuals..

University of Melbourne Researchers

Dallas English