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The origin and spread of the HFE-C282Y haemochromatosis mutation.
Hum Genet. 2004 Sep; 115(4):269-79.HG

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.

Authors+Show Affiliations

Hepatology Unit, Aker University Hospital, Oslo, Norway.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

15290237

Citation

Distante, S, et al. "The Origin and Spread of the HFE-C282Y Haemochromatosis Mutation." Human Genetics, vol. 115, no. 4, 2004, pp. 269-79.
Distante S, Robson KJ, Graham-Campbell J, et al. The origin and spread of the HFE-C282Y haemochromatosis mutation. Hum Genet. 2004;115(4):269-79.
Distante, S., Robson, K. J., Graham-Campbell, J., Arnaiz-Villena, A., Brissot, P., & Worwood, M. (2004). The origin and spread of the HFE-C282Y haemochromatosis mutation. Human Genetics, 115(4), 269-79.
Distante S, et al. The Origin and Spread of the HFE-C282Y Haemochromatosis Mutation. Hum Genet. 2004;115(4):269-79. PubMed PMID: 15290237.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The origin and spread of the HFE-C282Y haemochromatosis mutation. AU - Distante,S, AU - Robson,K J H, AU - Graham-Campbell,J, AU - Arnaiz-Villena,A, AU - Brissot,P, AU - Worwood,Mark, PY - 2004/8/4/pubmed PY - 2005/1/19/medline PY - 2004/8/4/entrez SP - 269 EP - 79 JF - Human genetics JO - Hum Genet VL - 115 IS - 4 N2 - 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. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/15290237/The_origin_and_spread_of_the_HFE_C282Y_haemochromatosis_mutation_ L2 - https://dx.doi.org/10.1007/s00439-004-1152-4 DB - PRIME DP - Unbound Medicine ER -