Frequency Analysis and Allele Map in Favor of the Celtic Origin of the C282Y Mutation of Hemochromatosis

After the main hereditary hemochromatosis mutation C282Y in the HFE gene was described, we report here the C282Y frequencies for various European populations. The aim of this meta-analysis is to compile the Y allele frequencies of the C282Y mutation for 53 European populations, representing a total of 9265 unrelated people representing control samples. The most elevated values are observed in residual Celtic populations in Ireland, in the United Kingdom, and in France, in accordance with the initial hypothesis of Simon et al. (Prog. Med. Genet. 4, 135-168, 1980) concerning a Celtic origin of the hereditary hemochromatosis mutation.