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Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate? HLA haplotype observations of hemochromatosis from the west coast of Sweden.
Eur J Haematol. 2011 Jan; 86(1):75-82.EJ

Abstract

The HLA-related hemochromatosis mutation C282Y is thought to have originated in Ireland in a person with HLA-A3-B14 and was spread by Vikings. Irish people with two HLA-A3 alleles had a high risk of hemochromatosis. In this study, from west Sweden, we wanted to test these hypotheses.

METHODS

HFE mutations in controls, bone marrow donors with HLA-A3/A3 and patients with hemochromatosis. HLA haplotypes, extended haplotype analysis and pedigree studies.

RESULTS

The allelic C282Y frequency 0.04, (CI 0.01-0.07) was lower (P < 0.001) in Sweden than in Ireland 0.10 (CI 0.08-0.11), and Swedish bone marrow donors with HLA-A3/A3 (n = 77) had a low risk of hemochromatosis. HLA haplotypes available from 239/262 (91.5%) proband patients homozygous for C282Y showed a dominance of A3-B7 and A3-B14 both in linkage disequilibrium with controls (P < 0.001). Pedigree studies extended into the 17th century supported a local founder effect of A3-B14 in the county of Bohuslän. The A3-B14 haplotype may well be the original and A3-B7 the result of centromeric recombinations. The haplotype diversity and recombination events were not different from a Celtic series. These findings do not support the hypothesis of the C282Y mutation being of an Irish Celtic origin.

CONCLUSIONS

The C282Y frequency shows a west to east decline from Ireland through the north of Europe. Vikings may have been involved in the spread of C282Y, but the mutation is probably older and may have been spread in Europe by earlier seafarers.

Authors+Show Affiliations

Section of Hematology and Coagulation, Department of Medicine, Sahlgrenska University Hospital, Göteborg, Sweden. sigvard.olsson@medic.gu.seNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Historical Article
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20946107

Citation

Olsson, Karl Sigvard, et al. "Was the C282Y Mutation an Irish Gaelic Mutation That the Vikings Helped Disseminate? HLA Haplotype Observations of Hemochromatosis From the West Coast of Sweden." European Journal of Haematology, vol. 86, no. 1, 2011, pp. 75-82.
Olsson KS, Konar J, Dufva IH, et al. Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate? HLA haplotype observations of hemochromatosis from the west coast of Sweden. Eur J Haematol. 2011;86(1):75-82.
Olsson, K. S., Konar, J., Dufva, I. H., Ricksten, A., & Raha-Chowdhury, R. (2011). Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate? HLA haplotype observations of hemochromatosis from the west coast of Sweden. European Journal of Haematology, 86(1), 75-82. https://doi.org/10.1111/j.1600-0609.2010.01536.x
Olsson KS, et al. Was the C282Y Mutation an Irish Gaelic Mutation That the Vikings Helped Disseminate? HLA Haplotype Observations of Hemochromatosis From the West Coast of Sweden. Eur J Haematol. 2011;86(1):75-82. PubMed PMID: 20946107.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate? HLA haplotype observations of hemochromatosis from the west coast of Sweden. AU - Olsson,Karl Sigvard, AU - Konar,Jan, AU - Dufva,Inge Hoegh, AU - Ricksten,Anne, AU - Raha-Chowdhury,Ruma, Y1 - 2010/11/30/ PY - 2010/10/16/entrez PY - 2010/10/16/pubmed PY - 2011/2/10/medline SP - 75 EP - 82 JF - European journal of haematology JO - Eur J Haematol VL - 86 IS - 1 N2 - UNLABELLED: The HLA-related hemochromatosis mutation C282Y is thought to have originated in Ireland in a person with HLA-A3-B14 and was spread by Vikings. Irish people with two HLA-A3 alleles had a high risk of hemochromatosis. In this study, from west Sweden, we wanted to test these hypotheses. METHODS: HFE mutations in controls, bone marrow donors with HLA-A3/A3 and patients with hemochromatosis. HLA haplotypes, extended haplotype analysis and pedigree studies. RESULTS: The allelic C282Y frequency 0.04, (CI 0.01-0.07) was lower (P < 0.001) in Sweden than in Ireland 0.10 (CI 0.08-0.11), and Swedish bone marrow donors with HLA-A3/A3 (n = 77) had a low risk of hemochromatosis. HLA haplotypes available from 239/262 (91.5%) proband patients homozygous for C282Y showed a dominance of A3-B7 and A3-B14 both in linkage disequilibrium with controls (P < 0.001). Pedigree studies extended into the 17th century supported a local founder effect of A3-B14 in the county of Bohuslän. The A3-B14 haplotype may well be the original and A3-B7 the result of centromeric recombinations. The haplotype diversity and recombination events were not different from a Celtic series. These findings do not support the hypothesis of the C282Y mutation being of an Irish Celtic origin. CONCLUSIONS: The C282Y frequency shows a west to east decline from Ireland through the north of Europe. Vikings may have been involved in the spread of C282Y, but the mutation is probably older and may have been spread in Europe by earlier seafarers. SN - 1600-0609 UR - https://www.unboundmedicine.com/medline/citation/20946107/Was_the_C282Y_mutation_an_Irish_Gaelic_mutation_that_the_Vikings_helped_disseminate_HLA_haplotype_observations_of_hemochromatosis_from_the_west_coast_of_Sweden_ L2 - https://doi.org/10.1111/j.1600-0609.2010.01536.x DB - PRIME DP - Unbound Medicine ER -