Origins of Greeks:
In the “The History and Geography of Human Genes” Cavalli-Sforza, Menozzi and Piazza grouped Greeks with other European and Mediterranean populations based on 88 to 120 loci. In this analysis of Europeans based on 88 genes, Cavalli-Sforza, Menozzi, and Piazza show that Sardinians and the Lapps of Finland form extreme outlier groups among Europeans. Greeks, Basques, and Finns are also outliers among the Europeans. They explain that in this case outliers implies that all the other European populations are related to these peoples which form the borders of the genetic structure in Europe (FIG. 24). They also clearly state that Greeks are some of the earliest contributors of genetic material to the rest of the Europeans as they are one of the oldest populations in Europe
Detailed analysis of the genetic results for the Greek population by Christos Karatzios, and Costas D. Triantaphyllidis.
Arnaiz-Villena’s much villified paper found:
“HLA alleles have been determined in individuals from the Re-public of Macedonia by DNA typing and sequencing. HLA-A, -B, -DR, -DQ allele frequencies and extended haplotypes have been for the first time determined and the results compared to those of other Mediterraneans, par-ticularly with their neighbouring Greeks. Genetic distances, neighbor-join-ing dendrograms and correspondence analysis have been performed. The following conclusions have been reached: 1) Macedonians belong to the ‘‘older’’ Mediterranean substratum, like Iberians (including Basques), North Africans, Italians, French, Cretans, Jews, Lebanese, Turks (Anatolians), Ar-menians and Iranians, 2) Macedonians are not related with geographically close Greeks, who do not belong to the ‘‘older’’ Mediterranenan substratum, 3) Greeks are found to have a substantial relatedness to sub-Saharan (Ethiopian) people, which separate them from other Mediterranean groups. Both Greeks and Ethiopians share quasi-specific DRB1 alleles, such as *0305, *0307, *0411, *0413, *0416, *0417, *0420, *1110, *1112, *1304 and *1310. Genetic distances are closer between Greeks and Ethiopian/sub-Saharan groups than to any other Mediterranean group and finally Greeks cluster with Ethiopians/sub-Saharans in both neighbour joining dendrograms and correspondence analyses. The time period when these relationships might have occurred was ancient but uncertain and might be related to the displacement of Egyptian-Ethiopian people living in pharaonic Egypt.
The highly polymorphic HLA system has been validated as useful for distinguishing and/or relating populations (and individuals) in many research studies since the first International HLA Anthropology Workshop (Evian, 1973) and in all the subsequent seven International Workshops. HLA gene frequencies correlate with geographically related populations. The existence or absence of gene flow among neighbouring ethnic groups may be assessed with the study of HLA frequencies and the corresponding genetic distances (1, 2)….
Characteristic HLA allele frequencies of the Macedonian population compared to other Mediterraneans. The expected and observed allele frequencies for HLA-A, -B, -DRB1 and -DQB1 loci do not significantly differ and the population sample is in Hardy-Weinberg equilibrium. Table 2 shows the HLA allele frequencies found in the Macedonian population. Fourteen different HLA-A and twenty-eight different HLA-B alleles were observed in the Macedonian population. Six HLA-A alleles and seven HLA-B alleles had frequencies higher than 5% (A*01, A*02, A*03, A*11, A*24, A*26, B*07, B*08, B*18, B*35, B*38, B*44 and B*51) and these are characteristic of Mediterranean populations (8–10, 22).”
It also came to the unsubstantiated conclusion and made the extraordinary claim that Greeks and Japanese and San bushmen belonged in the same cluster.
The above paper has been criticized almost universally as plain wrong, see Greek DNA and Arnaiz-Villena’s Pseudoscience and Cavalli-Sforza, Menozzi and Piazza showed that Japanese clustered with Southeast Asians (Chinese and Cambodians).
Neighbor-joining tree, representing relationship between 19 modern human populations. Tree is based on Das genetic distances for 182 tri- and tetranucleotide microsatellite repeats. Bootstrap resampling values are provided at each fork. Greeks cluster with the Europeans. Fig. 2 from Ayub Q., Mansoor A., Ismail M., Khaliq S., Mohyuddin A., Hameed A., et al. (2003).Reconstruction of human evolutionary tree using polymorphic autosomal microsatellites. American Journal of Physical Anthropology 122:259–268,
In Matilda’s Anthropology Blog post “Voted the world’s worst DNA study“, she rescues Anaiz-Villena’s paper and explains the value of HLA allele data in Arnaiz-Villena’s paper despite the erroneous conclusions and extraordinary claims of the paper:
Sub Saharan African mitochondrial DNA and Y chromosomes are only found at trace in Greece, and in every other study Greeks cluster with Europeans. This one gene (part of the immune system) could very easily be explained by one Ethiopian making it to Greece in classical times and natural selection taking over.
Petlichkovski A, Efinska-Mladenovska O, Trajkov D, Arsov T, Strezova A, Spiroski M.
Institute of Immunobiology and Human Genetics, Faculty of Medicine, University Ss. Kiril and Metodij, Skopje, Macedonia.
The Macedonian population is of special interest for HLA anthropological study in the light of unanswered questions regarding its origin and relationship with other populations, especially the neighbouring Balkanians. Two studies have been performed to examine HLA molecular polymorphism in the Macedonian population, so far. The present study is the first to be performed in Macedonia using high-resolution sequence-based method for direct HLA typing. The study included 158 unrelated healthy volunteers of Macedonian origin and nationality, having a Christian Orthodox religion. After the simultaneous amplification of exon-2 on both HLA-DRB1 alleles, DNA sequencing was used for genotype assignment. In the 158 samples analysed, all 316 alleles were typed and a total of 29 different DRB1 alleles were detected, with DRB1*1601 being the most frequent allele (14.9%), followed by DRB1*1104 (13.9%). A phylogenetic tree constructed on the basis of the high-resolution data deriving from other populations revealed the clustering of Macedonians together with other Balkan populations (Greeks, Croats, Turks and Romanians) and Sardinians, close to another “European” cluster consisting of the Italian, French, Danish, Polish and Spanish populations.The included African populations grouped on the opposite side of the tree
A multiple SNP study came to the conclusion.
Ayub Q, Mansoor et al.
Ivanova M, Rozemuller E, Tyufekchiev N, Michailova A, Tilanus M, Naumova E.
Central Laboratory of Clinical Immunology, Medical University, Sofia, Bulgaria.
In the present study we analyzed for the first time HLA class I and class II polymorphisms defined by high-resolution typing methods in the Bulgarian population. Comparisons with other populations of common historical background were performed. Most HLA-A, -B, -DRB alleles and haplotypes observed in the Bulgarian population are also common in Europe. Alleles and haplotypes considered as Mediterranean are relatively frequent in the Bulgarian population. Observation of Oriental alleles confirms the contribution of Asians to the genetic diversity of Bulgarians. The use of high-resolution typing methods allowed to identify allele variants rare for Europeans that were correlated to specific population groups. Phylogenetic and correspondence analyses showed that Bulgarians are more closely related to Macedonians, Greeks, and Romanians than to other European populations and Middle Eastern people living near the Mediterranean. The HLA-A,-B,-DRB1 allele and haplotype diversity defined by high-resolution DNA methods confirm that the Bulgarian population is characterized by features of southern European anthropological type with some influence of additional ethnic groups. Implementation of high-resolution typing methods allows a significantly wider spectrum of HLA variation to be detected, including rare alleles and haplotypes, and further clarifies the origin of Bulgarians