ArticleJournal of medical genetics1997
Global prevalence of putative haemochromatosis mutations.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 160 papers, 4 of them syntheses that pooled it.
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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
160 citing papers in PubMed, 4 syntheses or guidelines pooled it, 793 citations in OpenAlex.
- The association of HFE gene H63D polymorphism with endurance athlete status and aerobic capacity: novel findings and a meta-analysis.European journal of applied physiology · 2020Pooled it
- EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).European journal of human genetics : EJHG · 2016Guideline
- Mutations in the HFE gene and sporadic amyotrophic lateral sclerosis risk: a meta-analysis of observational studies.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2014Pooled it
- An association study of HFE gene mutation with idiopathic male infertility in the Chinese Han population.Asian journal of andrology · 2012Pooled it
- Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis.Journal of clinical pathology · 1998Trial
- One Clinical Picture, Two Clinical Entities: A Case Report and Literature Review of Neurofibromatosis and Hemochromatosis.Children (Basel, Switzerland) · 2026Article
- Article
- Homozygous TFR2 (c.2093_2096del) Mutation in an Asymptomatic Patient With Type 3 Hereditary Hemochromatosis, First Report From Saudi Arabia.Clinical case reports · 2026Article
- Distribution of HFE Gene Variants in Patients Undergoing Genetic Testing in Türkiye: A Retrospective Analysis of 643 Cases.The Eurasian journal of medicine · 2026Article
- Quantifying risk modifiers of hereditary hemochromatosis using genomic and electronic health record data.JHEP reports : innovation in hepatology · 2026Article
- A Decreasing North-to-South Gradient ofGenes · 2026Article
- Mean Corpuscular Volume inJournal of hematology · 2026Article
- Liver Iron Content in Individuals With B-Thalassemia Trait and Hyperferritinemia: Role of Metabolic Alterations,Mediterranean journal of hematology and infectious diseases · 2026Article
- A welder case with secondary haemochromatosis, which rarely accompanies pneumoconiosis.Occupational medicine (Oxford, England) · 2025Article
- HFE-Related Hemochromatosis May Be a Primary Kupffer Cell Disease.Biomedicines · 2025Review
- The Frequency and Potential Implications of HFE Genetic Variants in Children With Cystic Fibrosis.Pediatric pulmonology · 2025Article
- A 70-year-old Woman with Asymptomatic Ferroportin Disease.Internal medicine (Tokyo, Japan) · 2024Article
- Vascular Endothelial Growth Factor and Ischemic Stroke Risk: A Mendelian Randomization Study.Neurology and therapy · 2024Article
- The effect of red blood cell disorders on male fertility and reproductive health.Nature reviews. Urology · 2024Review
- A Revised Classification of Primary Iron Overload Syndromes.Journal of clinical and translational hepatology · 2024Article
100 more citing papers are in PubMed but not listed here.
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4 authors at 1 institution in 1 country.
Funding
Abstract
Haemochromatosis is a genetic disease associated with progressive iron overload, and is common among populations of northern European origin. HLA-H is a recently reported candidate gene for this condition. Two mutations have been identified, a substitution of cysteine for tyrosine at amino acid 282 (C282Y, nucleotide 845) and of histidine for aspartate at amino acid 63 (H63D, nucleotide 187). Over 90% of UK haemochromatosis patients are homozygous for the C282Y mutation. We have examined 5956 chromosomes (2978 people) for the presence of HLA-H C282Y and H63D by PCR followed by restriction enzyme analysis. We have found world wide allele frequencies of 1.9% for C282Y and 8.1% for H63D. The highest frequencies were 10% for C282Y in 90 Irish chromosomes and 30.4% for H63D in 56 Basque chromosomes. C282Y was most frequent in northern European populations and absent from 1042 African chromosomes, 484 Asian chromosomes, and 644 Australasian chromosomes. The distribution of the C282Y mutation coincides with that of populations in which haemochromatosis has been reported and is consistent with the theory of a north European origin for the mutation. The H63D polymorphism is more widely distributed and its connection with haemochromatosis remains unclear.
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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.