The men of the north: the Sami

By Razib Khan | December 8, 2010 1:19 pm

444px-Ole_Henrik_Magga_closeup
Ole Magga, Norwegian politician

ResearchBlogging.orgOn this blog I regularly get questions about the Sami (Lapp*). That’s because I often talk about Finnish genetics, have readers such as Clark who are of part-Sami origin, and, the provenance and character of the Sami speak to broader questions about the emergence of the modern European gene pool. More precisely questions about the Sami are relevant to the broader nature of the Finnic presence in Europe, and their relationship to other Baltic and northern populations. Are these people “indigenous” to Europe, or relatively newcomers (prehistoric Magyar or Turks).? These questions are prompted by the peculiarity of their languages (as well as the physical appearance of some of the Sami). With Basque they are the only living non-Indo-European European languages whose origins are prehistoric (Magyar and Turkish were arrivals within the last 1,000 years).**

Because of affinities to other Uralic languages which are found in Central Siberia it has often been conjectured that the Finns, Sami, and Estonians are relative newcomers to Norden from that region. This has some equivocal support from Y chromosomal lineages. On the other hand, there are those who argue that the Finnic peoples were present in the north of Europe before the arrival of Indo-European speakers (often these are Finnish nationalists). This has some support from maternal lineages. Naturally, some have been tempted to synthesize these two genetic lines of evidence, and the linguistic affinities, to argue that Finns are a hybrid population of Asiatic men and Paleolithic European women! But we need to go further than uniparental markers, the direct male and female ancestral lines. We need to look across the broader swath of the genome. It just happens that a new paper was published in The European Journal of Human Genetics on autosomal Sami affinities to other populations, A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies:

The understanding of patterns of genetic variation within and among human populations is a prerequisite for successful genetic association mapping studies of complex diseases and traits. Some populations are more favorable for association mapping studies than others. The Saami from northern Scandinavia and the Kola Peninsula represent a population isolate that, among European populations, has been less extensively sampled, despite some early interest for association mapping studies. In this paper, we report the results of a first genome-wide SNP-based study of genetic population structure in the Finnish Saami. Using data from the HapMap and the human genome diversity project (HGDP-CEPH) and recently developed statistical methods, we studied individual genetic ancestry. We quantified genetic differentiation between the Saami population and the HGDP-CEPH populations by calculating pair-wise FST statistics and by characterizing identity-by-state sharing for pair-wise population comparisons. This study affirms an east Asian contribution to the predominantly European-derived Saami gene pool. Using model-based individual ancestry analysis, the median estimated percentage of the genome with east Asian ancestry was 6% (first and third quartiles: 5 and 8%, respectively). We found that genetic similarity between population pairs roughly correlated with geographic distance. Among the European HGDP-CEPH populations, FST was smallest for the comparison with the Russians (FST=0.0098), and estimates for the other population comparisons ranged from 0.0129 to 0.0263. Our analysis also revealed fine-scale substructure within the Finnish Saami and warns against the confounding effects of both hidden population structure and undocumented relatedness in genetic association studies of isolated populations.

They had 352 Sami samples, and looked at ~38,000 SNPs. For the questions they’re focusing on 38 K SNPs seems fine. That’s enough to smoke out inter-population variation. In their paper they compared the Sami to the HGDP populations using standard techniques. Assuming 7 ancestral populations in the data set, this what ADMIXTURE popped out:

ejhg2010179f2

There is a definite “eastern” affinity among the Sami. Interestingly, it is broken down into a major and minor component. The major one is what is found among the Han, while the minor one resembles Native Americans. The natural interpretation for this is that what one is seeing is the shadow of the circumpolar northern Eurasian populations which spanned eastern Europe to Siberia. In comparison with other European populations the Sami affinity with Russians is clear, though interestingly they lack the “blue” component which peaks in northwest South Asian populations, which the Russians have, and Sardinians and French Basque lack.

samieigenTo the left you see a PCA which breaks out the top two components of genetic variation for the data set. The two axes seem to be roughly west-east, north-south. Whatever ancient affinities the Sami may have with Southern Europeans via mtDNA haplogroup U5, it is not evident in the total genome content. The position of the Sami between Russians and Orcadians (from north of Scotland) is probably attributable to the fact that the Sami share much genetically with other Scandinavians, who are closer to British populations than the Russians are.

I’m not sure these analyses really shed any light on the on the questions I mentioned earlier. The authors themselves note that the “eastern” component of the ancestry in the Sami is probably very old, so they may be an ancient stabilized hybrid population, mostly indigenous with a non-trivial exogenous element. That does not tell us whether Finnic languages are indigenous to Europe, or whether they are indigenous to Central Siberia (indigenous here is in reference to the Indo-European languages). Additionally, there is the matter that for such fine-grained questions the HGDP sample is suboptimal as reference populations. Dienekes Pontikos points this out:

It is unfortunate that they included Native American HGDP populations, but did not include the most relevant published data on Siberians that I first used to study population structure across north Eurasia here and here and here.

Hence, they discover a “Native American”-like component in Saami, which in all likelihood can be further resolved into Siberian-specific components utilizing the Rasmussen et al. dataset.

The “closest approximation” to the East Eurasian component in Saami in the HGDP panel are the Yakuts, but finer-scale analysis (see my previous posts) reveals that the Yakuts are made up almost entirely of an Altaic-specific component tying them to Turkic, Mongol, and Tungusic populations, while the eastern component in European Finns, Vologda Russians and Chuvashs has relationships with Central Siberians such as Kets, Selkups, and Nganasans, all of which are missing in this paper.

Below is a re-edited ADMIXTURE plot from Dienekes:

ADMIXTURE15

Note: There are many ways to spell Sami. They used two a’s, but I find that confusing, so I just used one in my text.

Citation: Maki-Torkko, Elina, Aikio, Pekka, Sorri, Martti, Huentelman, Matthew J, & Camp, Guy Van (2010). A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies European Journal of Human Genetics : 10.1038/ejhg.2010.179

* Apparently “Lapp” is considered derogatory among Norwegians, though Finnish Sami refer to themselves as lappalainen. I will use Sami to avoid irritating Norwegian terminology police.

** I am implicitly excluding much of European Russia west of the Urals, but so be it.

CATEGORIZED UNDER: Anthroplogy, Genetics
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  • http://www.kinshipstudies.org German Dziebel

    I left a comment at Dienekes, too. The discernible Native American component in the Saami seems to be of the same time and source as the recently discovered Americanoid C1 lineage in Icelanders. Predictably, all these ancient components are found at low frequencies in marginal populations (comp. also Y-DNA Q lineages in Norwegians – of Saami origin?). Saami also have mtDNA D5 at low frequencies, and it’s unique in Europe. Later post-LGM admixtures diluted Saami’s eastern, or even ultimately Native American ancestry. There are some strong cultural similarities between Saami and North American Indians (such as the sauna and the sweatlodge – they are very uncommon in Siberia), which map nicely onto this residual genetic component. The question is of course whether Uralic languages spread over a populational relic relatively recently and hence correspond to the more recent European component in the Saami genome or the Saami speak a relic Uralic language. In the “Genius of Kinship” I identified the Saami kinship terminological system as ancestral to the rest of Uralic languages. Linguistically, however, different branches of Uralic (Finnic, Volgaic, Ugric and Samoyedic) seem to be equidistant from proto-Uralic. See http://www.helsinki.fi/~tasalmin/kuzn.html

  • JL

    Apparently “Lapp” is considered derogatory among Norwegians, though Finnish Sami refer to themselves as lappalainen. I will use Sami to avoid irritating Norwegian terminology police.

    ‘Lappalainen’ is the old Finnish word for the Sami — I don’t think it’s a Sami word. Perhaps the Sami use it themselves, but it’s not a PC word nowadays among Finns. Somewhat perplexingly, the word ‘lappilainen’ is a perfectly neutral word used of the ethnic Finnish inhabitants of Lappi (Lapland), the northernmost part of Finland.

    ‘Sami’ is, of course, a cognate of ‘Suomi’, the native Finnish word for Finland. There’s been no push to change the foreign ethnonym of the Finns into ‘Suomi’ (or even ‘Suomalainen’), which is probably for the best, as it’s a word that speakers of Germanic languages, at least, find very difficult to spell correctly (let alone pronounce).

  • dearieme

    It is indeed probably for the best, JL, for speakers of Merkin might well confuse it with Samoa.

  • http://washparkprophet.blogspot.com ohwilleke

    ” Whatever ancient affinities the Sami may have with Southern Europeans via mtDNA haplogroup U5, it is not evident in the total genome content.”

    The U5 connection extends to Berbers and the Yakut and to other mtDNA haplogroups as well:

    “H1 and H3, two frequent subhaplogroups of H, display frequency peaks centered in Iberia and surrounding populations, including the Berbers of Morocco, and coalescence ages of ~11 ky (Achilli et al. 2004). Furthermore, their frequency patterns and ages resemble those reported for haplogroup V (Torroni et al. 2001a)—which, similar to U5b1b, is extremely common only in the Saami (together, U5b1b and V encompass almost 90% of the Saami mtDNAs) (Torroni et al. 1996; Tambets et al. 2004). . . . the identification of U5b1b now unequivocally links the maternal gene pool of the ancestral Berbers to the same refuge area and indicates that European hunter-gatherers also moved toward the south and, by crossing the Strait of Gibraltar, contributed their U5b1b, H1, H3, and V mtDNAs to modern North Africans.”

    If connections illustrated by mtDNA haplogroups found in 90% of Saami aren’t showing up in PCA analysis of total genome content, then something is wrong with either the PCA analysis method, or the Southern European total genome sample.

    My suspicion is that the Southern European total genome sample, which has far fewer individuals than the Southern European mtDNA datasets is failing to pick up traits that while predominant in the Saami that a very rare in other places where these haplogroups are found today, either due to founder effects in the Saami population (perhaps the entire pre-modern population had roots in people on a handful of coastal canoes who were genetically atypical), or due to subsequent dilution of the European and North African populations by overwhelming levels immigration from elsewhere (for example, upon the arrival of Neolithic farmers), or both.

    “[The characteristic U5 mtDNA haplogroup subtype is] found generally at low frequencies (<2%) in Berber populations and in other African groups (such as the Fulbe) known to have intermingled with Berbers (Rosa et al. 2004). The motif also shows similarly low frequencies in virtually all European populations, except the Saami of northern Scandinavia, in which it reaches ~48% (Tambets et al 2004)."

    My sense is that total genome studies systemically underestimate the extent to which whole genome traits that were originally associated with low frequency mtDNA and Y-DNA uniparental markers remain isolated in not easily identifiable subpopulations. They assume too readily that populations are fully admixed and that uniparental marker frequencies in the entire population will resemble proportionate contributions to the whole genomes of everyone in the entire population.

    In other words, I think that it is likely the the much smaller sample sizes used in whole genome studies simply miss the entirely the low frequency contributions to the mix, because the smaller sample size lacks people who have these low frequency genes.

    PCA analysis, because it is focused on the average similarity of whole genome comparisons, rather than having the ability to focus on phylogenetically notable outlier components, likewise obscure the contribution of low frequency genetic elements, as does a tool like Admixture until you have a very large number of source populations in the mix.

    The Saami affinity to Berbers and Southern Europeans is not really to these populations as a whole, but to an ancestral population that has left a less than 2% trace in the modern Berber and Southern European populations, but has left a 90% impact on modern Saami populations in the matriline (and hence, presumably, has had a total genome impact in the Saami of 45% give or take, or much more, if there was also a major Y-DNA contribution).

    It would really make more sense to see how much of a Saami contribution there is in Berber and Southern European whole genomes, since the relative uniformity of Saami genetics and the Saami cultural context suggests that it may be a relatively pure ancestral type that is no longer found in other populations, than to try to look at the amount of contributions to the Saami total genome that come from other source populations. If the analysis proceeded that way, one would expect to see a small component (under 2%) of whatever color was assigned to the Saami, in a wide variety of European and Berber populations.

  • http://www.kinshipstudies.org German Dziebel

    “In other words, I think that it is likely the the much smaller sample sizes used in whole genome studies simply miss the entirely the low frequency contributions to the mix, because the smaller sample size lacks people who have these low frequency genes.”

    How could they miss them if those low frequency contributions have just been identified (again!) as the eastern component related to Han and Amerindians? It’s 6%, which is low. This corresponds to the low frequencies of mtDNA D and Z in the Saami and probably Y-DNA Q in Norwegians. But I didn’t understand Razib’s statement that this whole genome study failed to identify a counterpart of mtDNA U5. Why can’t the green or brown bars stand for it?

  • Brian Too

    At the 2003 Arctic Winter Games the Saami had their own delegation, and I’m pretty sure that’s how they spelled it (two A’s). Interestingly enough the Russians had 2 delegations. The Russian groups were from 2 widely spaced locations; they could have been 2000 km apart.

    The structure of the event downplayed nationality just a bit in this way. Not like the Olympics where each country has it’s own team and that’s that.

  • onur

    Regarding the man in the photo (Ole Magga) I’d say that his Mongoloid admixture is obvious from his look.

    Wish they included Turks in the analysis. Though Adygei are a good proxy for the Mongoloid admixture of Turks.

  • Susan

    The features are extremely similar to Inuit (Eskimos), much more so than American Natives such as Indians, Cree, Metis, etc. I am positive there must be a connection between the two although on the other side of our great world.

  • http://washparkprophet.blogspot.com ohwilleke

    “How could they miss them if those low frequency contributions have just been identified (again!) as the eastern component related to Han and Amerindians? It’s 6%, which is low. This corresponds to the low frequencies of mtDNA D and Z in the Saami and probably Y-DNA Q in Norwegians. But I didn’t understand Razib’s statement that this whole genome study failed to identify a counterpart of mtDNA U5. Why can’t the green or brown bars stand for it?”

    The likelihood of missing them increases dramatically between 6% and 1%, when your sample size in the low hundreds, if there is significant hidden population structure.

    Razib’s statement is based on the PCA chart. For a population whose predominant mtDNA haplogroups appear persausively to have roots in Iberia or the vicinity, the Saami sample is not very close on the PCA chart to Southern Europeans. The mtDNA story shows Saami origins to be much closer to French Basque, for example, than to the French generally, yet that isn’t what the PCA chart shows.

  • http://www.kinshipstudies.org German Dziebel

    @Susan

    “The features are extremely similar to Inuit (Eskimos), much more so than American Natives such as Indians, Cree, Metis, etc.”

    I don’t know what features you have in mind, but, indeed, one of the most plausible circumpolar long-range linguistic proposals is that of Uralo-Eskimo (most recently by Uwe Seefloth on the basis of grammatical paradigms). I’ve also heard of some striking similarities between Saami and Inuit songs.

    @Andrew
    “The mtDNA story shows Saami origins to be much closer to French Basque, for example, than to the French generally, yet that isn’t what the PCA chart shows.”

    Where’s the mtDNA data you’re drawing on? Table 4 in Tambets, 2004, The Western and Eastern Roots of the Saami—the Story of Genetic “Outliers” Told by Mitochondrial DNA and Y Chromosomes, shows the frequencies of U5b and subclades in Europe, and it’s most frequent in Russians, Ukrainians and Croats, U5b1b in French (not French Basque). Basque have U8 at high frequencies. Maybe you’re talking about mtDNA hg V, which is frequent in both Saami and Basque. In any case, I think the whole genome and mtDNa data are in general agreement regarding the European admixture in Saami, with mtDNA offering a greater number of discrete sublineages to compare across discrete populations. Sometimes it’s useful but sometimes it’s just splitting hairs.

  • MikeP

    The man whose photo you posted looks like half the people at my high school reunion. That look is very common in the North Georgia/North Alamaba/Southeast Tennessee area.

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  • diana

    There’s actually a Norwegian Sami heavy metal joik band, Intrigue.

    http://www.intrigue.no/

    Some of their stuff is good, check it out.

    Lead singer:

    http://samiland.blox.pl/resource/kai_somby.jpg

    He’s dark and short.

  • free thinker

    On the question of whether the Finns are indigenous to the area relative to the Indo-Europeans. I have read that there are a lot of place names in Russia which mean something in the Finnish language even though there is no memory of Finns ever having lived there. If this is true, it would throw a lot of weight behind the indigenous side of the argument–suggesting that the Finns are the older group and that they once occupied a wider territory than at present.

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About Razib Khan

I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. In relation to nationality I'm a American Northwesterner, in politics I'm a reactionary, and as for religion I have none (I'm an atheist). If you want to know more, see the links at http://www.razib.com

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