ReviewHuman genetics2010
Factors influencing disease phenotype and penetrance in HFE haemochromatosis.
Review in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 48 citations in OpenAlex.
- Genetic and lifestyle modifiers of haemochromatosis-related clinical outcomes in HFE C282Y homozygotes.JHEP reports : innovation in hepatology · 2026Article
- Secondary hemosiderosis presented by porphyria cutanea tarda in a kidney dialysis patient: A case report.SAGE open medical case reports · 2020Article
- Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.BMC pregnancy and childbirth · 2018Article
- Association Studies of HFE C282Y and H63D Variants with Oral Cancer Risk and Iron Homeostasis Among Whites and Blacks.Cancers · 2015Article
- Effects of strain and age on hepatic gene expression profiles in murine models of HFE-associated hereditary hemochromatosis.Genes & nutrition · 2015Article
- Article
- Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2013Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- Multi-copper oxidases and human iron metabolism.Nutrients · 2013Review
- Observational
- An update on laboratory diagnosis of liver inherited diseases.BioMed research international · 2013Review
- Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.American journal of human genetics · 2012Article
- Non-coding keratin variants associate with liver fibrosis progression in patients with hemochromatosis.PloS one · 2012Article
- Article
- Genome-wide association studies and genetic risk assessment of liver diseases.Nature reviews. Gastroenterology & hepatology · 2010Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Haemochromatosis is predominantly associated with the HFE p.C282Y homozygous genotype, which is present in approximately 1 in 200 people of Northern European origin. However, not all p.C282Y homozygotes develop clinical features of haemochromatosis, and not all p.C282Y homozygotes even present abnormal iron parameters justifying venesection therapy. This situation was not apparent from initial genotype/phenotype correlation studies as there was a selection bias of patients. Only those patients with a significant iron burden were included in these early studies. It is now largely accepted that the p.C282Y/p.C282Y genotype is necessary for the development of HFE haemochromatosis. However, this genotype provides few clues as to why certain symptoms are associated with the disease. Expression of iron overload in people with this genotype depends on the complex interplay of environmental factors and modifier genes. In this review, we restrict our discussion to work done in humans giving examples of animal models where this has helped clarify our understanding. We discuss penetrance, explaining that this concept normally does not apply to autosomal recessive disorders, and discuss the usefulness of different biochemical markers in ascertaining iron burden. Hepcidin, a peptide synthesized primarily by the liver, has been identified as the central regulator in iron homeostasis. Consequently, understanding its regulation is the key. We conclude that the main goal now is to identify important modifiers that have a significant and unambiguous effect on iron storage.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.