HLA genes in Macedonians and the sub-Saharan origin of the Greeks

HLA alleles have been determined in individuals from the Republic of Macedo nia by DNA typing and sequencing. HLA-A, -B, DR, -DQ allele frequencies and extended haplotypes have been for the first time determined and the result s compared to those of other Mediterraneans, particularly with their neighb ouring Greeks. Genetic distances, neighbor-joining dendrograms and correspo ndence analysis have been performed. The following conclusions have been re ached: 1) Macedonians belong to the "older" Mediterranean substratum, like Iberians (including Basques), North Africans, Italians, French, Cretans, Je ws, Lebanese, Turks (Anatolians), Armenians and Iranians, 2) Macedonians ar e not related with geographically close Greeks, who do not belong to the "o lder" Mediterranenan substratum, 3) Greeks are found to have a substantial relatedness to sub-Saharan (Ethiopian) people, which separate them from oth er Mediterranean groups. Both Greeks and Ethiopians share quasi-specific DR B1 alleles, such as *0305, *0307, *0411, *0413, *0416, *0417, *0420, *1110, *1112, *1304 and *1310. Genetic distances are closer between Greeks and Et hiopian/subSaharan groups than to any other Mediterranean group and finally Greeks cluster with Ethiopians/sub-Saharans in both neighbour joining dend rograms and correspondence analyses. The time period when these relationshi ps might have occurred was ancient but uncertain and might be related to th e displacement of Egyptian-Ethiopian people living in pharaonic Egypt.