Study Clarification II

September 22, 2004

Dienekes Pontikos already wrote a complete deconstruction and exposé of the following study and its politically motivated authors on his old blog (also available on his website), yet the study continues to be cited regularly by Nordicists, Afrocentrists and Macedonian Nationalists in support of their racial and political agendas. So it's worth revisiting this disputed paper to summarize its scientific inaccuracies, and compare it to later, more reliable research.


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

Arnaiz-Villena et al. (2001)
Tissue Antigens

Link to Full Text

Misused Quote:

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.


At about the same time this study was published, its main author, Antonio Arnaiz-Villena, had a similar HLA study published in Nature, which was later dropped following criticism by three top men in the field of population genetics (Risch, Piazza and Cavalli-Sforza 2002). They rejected the conclusions Arnaiz-Villena drew based on the HLA DRB1 allele — the same marker analyzed in the present study:

Even a cursory look at the paper's diagrams and trees immediately indicates that the authors make some extraordinary claims. They used a single genetic marker, HLA DRB1, for their analysis to construct a genealogical tree and map of 28 populations from Europe, the Middle East, Africa and Japan. Using results from the analysis of a single marker, particularly one likely to have undergone selection, for the purpose of reconstructing genealogies is unreliable and unacceptable practice in population genetics.

The limitations are made evident by the authors' extraordinary observations that Greeks are very similar to Ethiopians and east Africans but very distant from other south Europeans; and that the Japanese are nearly identical to west and south Africans.
It is surprising that the authors were not puzzled by these anomalous results, which contradict history, geography, anthropology and all prior population-genetic studies of these groups. Surely the ordinary process of refereeing would have saved the field from this dispute.

We believe that the paper should have been refused for publication on the simple grounds that it lacked scientific merit.

Note, however, that when analyzed properly even HLA genes, while not ideal markers for tracing ancestral relationships, demonstrate the affinity of Greeks to other Balkan and European peoples, as shown by two recent studies:

In the present study we analyzed for the first time HLA class I and class II polymorphisms defined by high-resolution typing methods.... 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.

Ivanova et al. 2002

The present study is the first to be performed in Macedonia using high-resolution sequence-based method for direct HLA typing. ... 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.

Petlichkovski et al. 2004

More importantly, this obvious affinity has been confirmed with the most up-do-date research on autosomal microsatellites. For example, Ayub et al. 2003 used 182 loci (as opposed to Arnaiz-Villena's one) to group several world populations based on genetic distance. Their results reveal Greeks' distance from Africans, and closeness to Basques and other Europeans:

Update 10/26/04: A new textbook written by geneticist Mark Jobling uses this very Arnaiz-Villena study as an example of shoddy research based on arbitrary interpretations. You can access relevant passages at Dienekes' blog.

Update 04/27/11: A group of academics have put together a website containing a lengthy article that addresses and thoroughly refutes this study and others like it, calling for them all to be retracted. Read more.