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Article

The origin and spread of the HFE-C282Y haemochromatosis mutation.

Human genetics - 1 Sept 2004

Distante S, Robson K J H, Graham-Campbell J, Arnaiz-Villena A, Brissot P, Worwood Mark

Abstract excerpt

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...

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Source

Identifiers

PMID: 15290237
DOI: 10.1007/s00439-004-1152-4

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The origin and spread of the HFE-C282Y haemochromatosis mutation.PMID 15290237Read ↗

Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings.Semantic proximity Read ↗

Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate? HLA haplotype observations of hemochromatosis from the west coast of Sweden.Semantic proximity Read ↗

Celtic origin of the C282Y mutation of hemochromatosis.Semantic proximity Read ↗

A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of the mutation?Semantic proximity Read ↗

The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic.Semantic proximity Read ↗

Frequency analysis and allele map in favor of the celtic origin of the C282Y mutation of hemochromatosis.Semantic proximity Read ↗

Multicentric origin of hemochromatosis gene (HFE) mutations.Semantic proximity Read ↗

Frequency of the C282Y and H63D mutations of the hemochromatosis gene (HFE) in a cohort of 1,000 neonates in Madrid (Spain).Semantic proximity Read ↗

Celtic origin of the C282Y mutation of hemochromatosis.Semantic proximity Read ↗

Geography of HFE C282Y and H63D mutations.Semantic proximity Read ↗

HLA-A3-B14 and the origin of the haemochromatosis C282Y mutation: founder effects and recombination events during 12 generations in a Scandinavian family with major iron overload.Semantic proximity Read ↗

The C282Y mutation may have been positively selected as it mitigates the infertility of celiac disease.Semantic proximity Read ↗

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