Re: HLA genes in Macedonians and the sub-Saharan origin of the Greeks
May 28, 2003
The Fallmerayer Thesis in the Light of Genetic Evidence
Jacob Fallmerayer stirred quite a controversy in the 19th century by proposing that the Hellenic nation had perished in the Middle Ages by admixture with Slavs and Albanians.
We are now in a position, through genetic evidence to evaluate this thesis, at least with respect to the question of Slavic settlements.
Slavs are distinguished by having a specific Y-chromosome haplogroup R1a, or HG3, or Eu19. This reaches frequencies of higher than 50% in Poles and decreases significantly in non-Slavic populations. The "Macedonians" of FYROM, the Slavic population immediately to the north of Greece have frequencies of R1a of 35%.
We must warn that R1a itself is not a Slavic marker. This means that any particular R1a sequence could, or could not be of Slavic origin. But, a population that has mixed with Slavs is likely to show this in relatively high levels of R1a.
Ornella Semino published a study in Science 290: 1155 in which the levels of R1a (which she calls Eu19 are given in various populations. Greeks have 11.8%, that is about 1/6 that of the Hungarians, who top the list at 60%. The Hungarians are not Slavs, but from the genetic standpoint they could very well be of Slavic origin, converted linguistically by the Asiatic Magyars. The Poles at 56.4% are the highest Slavic population.
We must note that ancient Slavic groups at the time of the Slavic dispersals probably had even higher levels of R1a. After all, Poles and Hungarians are themselves only partly Slavic in origin, and the result of admixture of a predominantly Slavic element with indigenous pre-Slavic ones. As a result, it is likely that at the time of their migrations, the Slavs had even higher frequencies of R1a.
R1a did not originate with the Slavs (that is why it is not a Slavic marker). Its origins in a Eastern European refugium after the Last Glacial Maximum means that it has had plenty of time to spread across the continent even to places where Slavs were never present. For example, its frequency in Syrians at a frequency of 10%, close to that of Greece, in the Saami of Scandinavia at 10%, Turks at 6.6% and in Albanians in 9.8%. It is even found in the Dutch, at a frequency of 3.7%, a population that has been largely unaffected by any Slavonic incursion. Given that Greece is closer to the area where R1a probably originated, it is very likely that R1a lineages would have been part of early population elements of the Balkans.
Thus, we know that at least a part of 11.8% of R1a in Greeks is of pre-Slavic origin. We also know that the ancient Slavs had frequencies of it in excess of 50%. It's hard to quantify the exact percentages, but I will give an educated guess, that 5% of R1a lineages in Greece are of Slavic origin, while the ancient Slavs had it in frequency of 75%. The picture is not much different if we change these numbers, but they will do for now. As a result, the Slavonic influence in Greece turns out to be about 7%, an almost exact match for the figure given by Vasiliev in his History of the Byzantine Empire based on demographic considerations.
This figure might turn out to be less, or slightly more. Better resolution using markers distinguishing R1a chromosomes might provide us with additional information. But, the conclusion seems unavoidable, that the contribution of Slavs to the Greek gene pool (if any) is very limited, certainly not enough to extinguish the noble Hellenic nation as Fallmereyer had proposed.
It seems that a certain cystic fibrosis mutation is of Slavic origin (in other words, the original population who became the Slavs came up with this gene). The intersting thing is that Serbs, Croats and Bulgarians don't carry the gene. What does this mean? It might mean that the gene is not really the Slavic gene. Or, as the authors of the report below say, southern Slavs lost the gene when they mixed with other populations. I'm not saying they're right in making that assumption. But who knows?
"Our results indicate that this mutation is particularly common in Czech, Russian, Belorussian, Austrian, German, Polish, Ukrainian, Slovenian, and Slovak patients. It is the second most common CF mutation to be identified in Central and Eastern European CF patients. By contrast, it was only sporadically detected in Western Europe and was absent in Bulgarian, Croatian, Romanian and Serbian CF patients. It was not found in diverse other populations of non-Slavic origin. The geographic distribution of the mutation is similar to the spread of Slavic populations during the first millenium."
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