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Sunday, February 23, 2014

Genetic affinities of Estonian Poles

The Estonian Biocentre has a new genotype dataset available from the recently released "Khazar" preprint (see here). The samples include Poles from Estonia, so I ran a PCA to see whether there was a clear difference between them and their ethnic kin from Poland in terms of genome-wide genetic structure. This doesn't appear to be the case, except for a few individuals who probably have significant Estonian and/or northwest Russian ancestry (the several northernmost and easternmost Polish_Estonian samples on the plots below). It's an interesting result, considering that, as far as I know, most Estonian Poles are not of recent Polish origin, but have roots in the East Baltic dating back to the Polish-ruled Duchy of Livonia of the 1600s. Please note, the plots were rotated and stretched horizontally to fit with geography.


Behar, Doron M.; Metspalu, Mait; Baran, Yael; Kopelman, Naama M.; Yunusbayev, Bayazit; Gladstein, Ariella; Tzur, Shay; Sahakyan, Havhannes; Bahmanimehr, Ardeshir; Yepiskoposyan, Levon; Tambets, Kristiina; Khusnutdinova, Elza K.; Kusniarevich, Aljona; Balanovsky, Oleg; Balanovsky, Elena; Kovacevic, Lejla; Marjanovic, Damir; Mihailov, Evelin; Kouvatsi, Anastasia; Traintaphyllidis, Costas; King, Roy J.; Semino, Ornella; Torroni, Anotonio; Hammer, Michael F.; Metspalu, Ene; Skorecki, Karl; Rosset, Saharon; Halperin, Eran; Villems, Richard; and Rosenberg, Noah A., No Evidence from Genome-Wide Data of a Khazar Origin for the Ashkenazi Jews (2013). Human Biology Open Access Pre-Prints. Paper 41.


Helgenes50 said...

@ David
What I don't understand how the Ashkenazi at 23andme, may be for some of them detected almost 100% Ashkenazi
All other populations are a mixture of North, East, South European, I don't see why
it would be different for them

Especially if some of their ancestors are of European origin

Davidski said...

Ashkenazi Jews are indeed of mixed origin, like everyone else, but they experienced extreme founder effect and probably heavy genetic drift during the past 1,000 years. This means their haplotypes are now easily recognized as typically Ashkenazi, even though these haplotypes are originally of Near Eastern, East European or even Sub-Saharan origin. If the Ashkenazi reference pool was taken out at 23andMe, then Ashkenazi clients might score something like 40% Italian, 30% Near Eastern, 20% Eastern European and 10% Northern European. I'm just guessing, but you get the idea.

Ashkenazi Jews are similar to Finns in that respect, who also have low haplotype diversity because of founder effect. Many Finns score almost 100% Finnish at 23andMe. Other Europeans, like French, have way too much haplotype diversity (simply because they have many more ancestors) to get results like that.

Helgenes50 said...

In my case, for example. I am French, 23andme has detected Finnish and Ashkenazi in my AC. So it is not anterior to the founder effect, from what I understand.

The Finnish is not a common heritage, came from hunter-gatherers or from the Vikings, but rather something inherited for the last centuries.

Ponto said...

Do you buy the argument that Georgians and Armenians are not a good proxy for Caucasians as they are basically offshoots of the Middle East?

Most admixture programs show Georgians and Armenians to be mostly of the same ancestral component as North Caucasians.

Is it not the case that Middle Easterners have more Caucasian ancestry than Caucasians have Middle Eastern? The shoe is on the other foot.

Davidski said...

North Caucasians have a lot more steppe and Volga-Ural ancestry than Armenians and Georgians, and most of that stuff is really old. So yes, they're quite different, and you can see that on the PCA above.

If Ashkenazi Jews had non-trivial ancestry from the Khazar Empire they'd clearly show that old steppe influence as well, but they don't. What some of them have are very recent IBD segments from Eastern Europe, maybe because of the Cossacks, I don't really know?

In any case, they do share those segments with some Armenians and Georgians who also have very recent Russian ancestry. Maybe that's what confused Elhaik? I know that the Armenians he used actually came from Russia, because I have that dataset, and some of them are clear outliers towards East Slavs. A few of the Georgians from the same dataset are as well.

Sgt said...

You're right a terrific data-set. Can't wait to play!

I thought the Cossacks too were responsible for EEuro but where's the Y?

MDLP-12 shows some 'Steppe' in Jews, but only a third of what Kumyks have.

Davidski said...

Ashkenazi R1a doesn't all belong to the R1a-M582 subclade. Some of it falls within an Ashkenazi-specific R1a-M458 cluster, and I'm pretty sure there are individual cases of R1a-Z280 too.

About Time said...

Elhaik arbitrarily designated Georgian and Azeri Jews as "real" and Ashkenazim as not. Circular reasoning.

Show me Mongol or Buriat or even Uzbek segments in Ashkenazim and we can evaluate it for Turkic origins 600-1000 AD. Then you must explain why they are basically the same as Sephardim.

Look at the bust of Flavius Josephus. Was he a Khazar too? Sometimes the obvious is hard to believe.

Sgt said...

What we know about "the Khazars" from the literature {Peter B. Golden and others}: They were a political grouping of several populations becoming more heterogeneous over 350 years of rule {Omeljan Pritsak speculated an inherited connection between the Khazar emperor and the rise of Rus fiefdoms}. Even after the post-Khazar, Mongol invasions of the 13th century the native populations of the North Caucasus and Southern Russia do not appear to be overtly East Asian. The presumptive Khazar leadership, the Ashina, had Iranian beginnings, a Mongolian interlude and a European finale. Even the name Ashina is Iranic as were the names of the first emperors or Khagans. The Ashina brought part of the Kök-Türk armies. Other original peoples incorporated into the Khazars {and not as vassal tribes} were [6th Century] - Sabirs {Magyar allies}; Onogurs/Bulgars Balanjars/Barsils; and from the 7th Century: Jews who according to the Cambridge document came to fight their enemies who were also the enemies of Khazaria {Persia, Arabia, Armenia anybody & everybody}. -- The Historical implications {if ever "proven"} for a ~10% "native" Khazar inheritance to the AJ is that perhaps 20-30% of Jews came into Europe through this 'corridor.'

Davidski said...

Southern Russians mostly descend from populations of the forest steppe just north and northwest of the western steppe, and they're much more closely related to other ethnic Russians, Volga Finns, and in fact even Poles, than to any North Caucasian or Turkic group. That's why they don't show any East Asian admixture, although they do have a bit of Siberian ancestry, but in any case, it's very unlikely that their genetic structure says much about the Khazars.

Most of the western steppe was actually home to Turkic tribes since the early Middle Ages, when the Scythians and Sarmatians left the area. I think the Nogay were one of the last Turkic groups to live there, before being cleared out by the Russians only a couple hundred years ago, in a process that was very similar to the taming of the Wild West in North America. So maybe they're as close to the Khazars as anyone alive today? They do show plenty of East Asian admixture.

Sgt said...

Nogais, Kumyks, North Ossetians could possibly represent various descendant peoples of the Khazars... R1b-L23 is an interesting Y-hg to take a look at: Kumyks, Bashkirs and some Ashkenazy {9% of Poles too} have it. May have been part of the make-up of the Alans, clans of which were probably part of the Khazar-mix. Atdna does point partially to Italy for AJ but there are some other elements. A minority of AJ emerging through the Khazar sphere could explain recent EEuro/Baltic IBD which I speculate comes from the mt like H7 and others... The Ravenna Anonymous Geography {6th-7th Cent} and the Russian Primary Chronicle {12th Century} both refer to the Khazars as Scythians; the Balanjars/Barsils could have been Sarmatian{Alan} and N Caucasus peoples... who knows. "Türk" was a political-sociological definition rather than ethnic {Golden}.

About Time said...

Would be good to know which R1a SNPs there were on the old Tocharian areas of C Asia. "Arsi" were somewher around there too, when "Ashina" show up.

Afghans have some of the only plausible "lost tribes of Israel" stories, no idea if that connects to Khazars if there were East Iranian elements.

People discount it because of the Iranian language, but northern tribes were apostates that went pagan somehow. They actively rebelled against the Jewish Temple and priesthood and were exiled (by Assyrians) to "cities of the [Iranian] Medes", so a language change wouldn't be unheard of.

Apparently there was some link between Iranians or epi-Iranians (like Mitannians) and Judeans based on history (major involvement with Babylon and Persia) and now the R1a hg evidence. Maybe Khazars factor into this somehow.

Again, probably Arabian and Persian Jews were looking for exits from dhimmitude after the Muslim conquests of the 600s. Khazaria would have been a safe haven until breakup in 1000s ad. Which if memory serves is exactly time frame for major bottleneck and (from Dienekes) admixture in Askenazim.