ArticleHuman genetics2004
The origin and spread of the HFE-C282Y haemochromatosis mutation.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Hemochromatosis gene and nonalcoholic fatty liver disease: a systematic review and meta-analysis.Journal of hepatology · 2011Pooled it
- Distribution of HFE Gene Variants in Patients Undergoing Genetic Testing in Türkiye: A Retrospective Analysis of 643 Cases.The Eurasian journal of medicine · 2026Article
- C282Y Homozygosity Increases Erythrocyte Turnover and Decreases HbA1c-A Population-Based Study.International journal of molecular sciences · 2026Article
- A Decreasing North-to-South Gradient ofGenes · 2026Article
- HFE-Related Hemochromatosis May Be a Primary Kupffer Cell Disease.Biomedicines · 2025Review
- Complex Interactions between the Human Major Histocompatibility Complex (MHC) and Microbiota: Their Roles in Disease Pathogenesis and Immune System Regulation.Biomedicines · 2024Review
- Hemochromatosis: Ferroptosis, ROS, Gut Microbiome, and Clinical Challenges with Alcohol as Confounding Variable.International journal of molecular sciences · 2024Review
- Pseudovitelliform maculopathy associated with hereditary hemochromatosis.Medical hypothesis, discovery & innovation ophthalmology journal · 2023Article
- Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.Genetics and molecular biology · 2023Article
- Seed management using NGS technology to rapidly eliminate a deleterious allele from rice breeder seeds.Breeding science · 2022Article
- Article
- From Environment to Genome and Back: A Lesson fromInternational journal of molecular sciences · 2020Review
- Inherited iron overload disorders.Translational gastroenterology and hepatology · 2020Review
- Despite Genetic Iron Overload,JBMR plus · 2019Article
- "Let my liver rather heat with wine" - a review of hepatic fibrosis pathophysiology and emerging therapeutics.Hepatic medicine : evidence and research · 2019Article
- HLA-B*07, HLA-DRB1*07, HLA-DRB1*12, and HLA-C*03:02 Strongly Associate With BMI: Data From 1.3 Million Healthy Chinese Adults.Diabetes · 2018Article
- Inherited Disorders of Iron Overload.Frontiers in nutrition · 2018Review
- The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.International journal of hematology · 2018Review
- The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system.Immunity, inflammation and disease · 2017Review
- Genetics of HIV-associated sensory neuropathy and related pain in Africans.Journal of neurovirology · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The mutation responsible for most cases of genetic haemochromatosis in Europe (HFE C282Y) appears to have been originated as a unique event on a chromosome carrying HLA-A3 and -B7. It is often described as a "Celtic mutation"--originating in a Celtic population in central Europe and spreading west and north by population movement. It has also been suggested that Viking migrations were largely responsible for the distribution of this mutation. Two, initial estimates of the age of the mutation are compatible with either of these suggestions. Here we examine the evidence about HFE C282Y frequencies, extended haplotypes involving HLA-A and -B alleles, the validity of calculations of mutation age, selective advantage and current views on the relative importance of "demic-diffusion" (population migration) and "adoption-diffusion" (cultural change) in the neolithic transition in Europe and since then. We conclude that the HFE C282Y mutation occurred in mainland Europe before 4,000 BC.
Indexed as
Identifiers
15290237What OpenQuestion holds
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.