The African contribution to the present‐day population of the Azores Islands (Portugal): Analysis of the Y chromosome haplogroup E

Among the settlers that, from 1432 onwards, arrived to the Azores Islands were individuals of North and sub‐Saharan African origin. A previous study of markers of the Y chromosome revealed that haplogroup E is the second more frequent in the Azores (13%). Since this haplogroup is heterogeneous and may contain subtypes of African or non‐African origin, we analyzed an extended sample of 319 Azoreans, originating from the three groups of islands (Eastern, Central, and Western), to evaluate the African contribution to the present‐day population of the Azores. Samples belonging to the E clade were distributed into six haplogroups, from which the most frequent was E3b1a, representing 47.2% of the E chromosomes (6.3% of the total sample). The sub‐Saharan haplogroup E3a was found in 7.1% of E chromosomes (0.9% of the total), corresponding to the highest frequency reported so far in a Portuguese population. No significant differences were detected in the haplogroup distribution among groups of islands, as well as between Azores and most of other European populations compared. The present‐day representation of sub‐Saharan lineages in Azores, although reduced, is higher than in other Portuguese populations, where the demographic representation of sub‐Saharan slaves is reported as similar. Am. J. Hum. Biol., 2007. © 2007 Wiley‐Liss, Inc.