Was the C282Y mutation an Irish Gaelic mutation that the Vikings help disseminate?

Med Hypotheses. 2006;67(6):1270-3. doi: 10.1016/j.mehy.2006.06.013. Epub 2006 Aug 22.


The C282Y mutation is held to have arisen in either a Celtic or a Viking ancestor some 60 generations ago. While the Scandinavians have a high frequency of C282Y, the Irish have the highest frequency of the C282Y mutation in the world. However testing of the Irish people for C282Y has been patchy. The true frequency of the C282Y mutation in Ireland and specifically in the relatively isolated western province of Connaught is unknown. Establishment of the C282Y frequency in the Irish male population of Connaught with traditional Irish surnames, a group which has a virtual fixation for Y chromosome R1b3, could help establish C282Y as an Irish mutation. Elucidation of greater C282Y haplotype diversity for the Irish as opposed to the Scandinavians would indicate the Irish as the likely source population for C282Y. Taken together, linking of C282Y to the Irish Gaelic male population of Connaught and establishment of an Irish origin of the C282Y mutation would point to dissemination of the C282Y mutation by Viking raiders and colonizers.

MeSH terms

  • Alleles
  • Chromosomes, Human, Y
  • Gene Frequency
  • Genetic Variation
  • Geography
  • Haplotypes
  • Hemochromatosis / genetics*
  • Humans
  • Ireland
  • Male
  • Models, Biological*
  • Mutation*
  • Penetrance*
  • Scandinavian and Nordic Countries