Saami Genetics: Abstracts and Summaries

by Kevin Alan Brook

Family Tree DNA - Genetic testing service
Family Tree DNA: Genetic Testing Service
Get genetically tested to discover your relationships to other families from your own ethnic group as well as others from the Nordic countries and beyond. Hundreds of people participate in the company's "Saami" DNA project, administered by Jeannine Woods. This project unfortunately carries a science-denying sentence that falsely characterizes their partial Asian origin as a "popular myth". Asian admixture has been proven to exist in all of the Saami both using autosomal DNA and uniparental DNA testing. Nevertheless, this project should be of value.

The Saami (Sami) people live today in northernmost regions of Europe including northern Norway, northern Sweden, northern Finland, and northwestern Russia - in the region called Sápmi or Lapland - but in the past many of them lived further south and east. Their languages, split into many varieties within the Eastern Saami and Western Saami groups, belong to the Uralic family.

The autosomal DNA and uniparental DNA evidence is conclusive that the Saami people have a minority of roots from the Mongoloid race of Asia (usually estimated to make up between 5 and 8 percent of their autosomal DNA, or as much as 13 percent according to one study). At the same time, attention should be paid to the substantial ancestry of indigenous European origin among the Saami people.

Some Saamis carry the mtDNA haplogroup D5, specifically D5a3a1a or D5e. D5a3a1a has been detected in Saami from Norway as well as among the Finnish, ethnic Russian, and Mansi peoples. It is a branch of D5a3a1 which is found among peoples of China (including Uygurs) and Ukraine, and that is a descendant of D5a3 which is found today in Tibet, Japan, and among the Koreans. The root level of haplogroup D originated around western Siberia.

Another interesting mtDNA haplogroup of Siberian origin among the Saami is Z, which is found for instance among about 7% of Saami from Finland. Their subclade Z1a was found in an ancient Kola Peninsula site in northwestern Russia.

Many Saami men carry the Y-DNA haplogroup N1c, formerly known as N3. It is also found among Finns, Baltic peoples like Estonians, and peoples of the Volga region (such as Chuvashes), Ural Mountains region, and Siberia (such as among the Nenets and the Yakuts). N1c is the westernmost branch of N, which is also found in East Asia and probably originated there.

The mtDNA haplogroup U5b1b's subclade U5b1b1 is mainly found among eastern Europeans and northern Europeans, including the Saami, people from Karelia, and natives of Russia's Volga-Ural region.

Varieties of the mtDNA haplogroup V are found among the Saami and also among the Maris of European Russia and the Basques and Cantabrians of Spain.

Saami males who carry the Y-DNA haplogroups I1, R1a, and R1b descend from long lines of European men. The Saami evidently got their I1 from ethnic Swedish ancestors. R1a is especially common in the eastern parts of Europe and the Saamis' distant R1a ancestors probably lived in eastern Europe. Most of the Saami who carry R1a live in Sweden and the Kola Peninsula, though it is sometimes found among the Saami of Finland as well.

Major studies of the Saami

Kristiina Tambets, Siiri Rootsi, Toomas Kivisild, Hela Help, Piia Serk, Eva-Liis Loogväli, Helle-Viivi Tolk, Maere Reidla, Ene Metspalu, Liana Pliss, Oleg Balanovsky, Andrey Pshenichnov, Elena Balanovska, Marina Gubina, Sergey Zhadanov, Ludmila Osipova, Larisa Damba, Mikhail Voevoda, Ildus Kutuev, Marina Bermisheva, Elza Khusnutdinova, Vladislava Gusar, Elena Grechanina, Jüri Parik, Erwan Pennarun, Christelle Richard, Andre Chaventre, Jean-Paul Moisan, Lovorka Barać, Marijana Peričić Pavao Rudan, Rifat Terzić, Ilia Mikerezi, Astrida Krumina, Viesturs Baumanis, Slawomir Koziel, Olga Rickards, Gian Franco De Stefano, Nicholas Anagnou, Kalliopi I. Pappa, Emmanuel Michalodimitrakis, Vladimir Ferák, Sandor Füredi, Radovan Komel, Lars Beckman, and Richard Villems. "The Western and Eastern Roots of the Saami-the Story of Genetic 'Outliers' Told by Mitochondrial DNA and Y Chromosomes." The American Journal of Human Genetics 74:4 (April 1, 2004): pages 661–682.
      445 Saami mtDNA samples and 127 Saami Y-chromosome samples were analyzed here, compared to tens of thousands of samples from non-Saami individuals from Europe and Siberia. Some of the Saami samples were newly collected for this study.
      Table 1 lists the following frequencies for mtDNA haplogroups among the Saami: 47.6% carried U5b1b1c, 41.6% carried V, 3.1% carried D5e, 2.5% carried H1d, and 1.3% carried Z. Table 2 shows that some Saami in Norway carry the mtDNA haplogroups T and U5a. Among this study's Saami samples, in Sweden 68.4% carried V and 26.5% carried U5b, in Finland 37.7% carried V, and in Norway 33.1% carried V and 56.8% carried U5b. Mitochondrial frequencies aren't specified for any of the study's Saami from the Kola Peninsula in Russia.
      A significant proportion of Saami men carry the Y-DNA haplogroups I, R1a, and R1b which are prevalent in Europe, with I being nearly exclusive to Europe. Table 2 indicates that the Y-DNA haplogroup N3 is found among 37.1% of Saami in Sweden, 55.1% of Saami in Finland, and 39.1% of Saami on the Kola Peninsula; it does not state its percentage among Saami in Norway. I has a frequency of 17.4% of Saami men from Kola, 31.4% of those from Sweden, and 40.6% of those from Finland. R1a is found in 20% of those from Sweden and 21.7% of those from Kola but only 2.9% of those from Finland. Haplogroup E was detected in 8.7% of Saami men from Kola and haplogroup J was detected in 4.3% of that subgroup, whereas E and J were absent in the study's other Saami samples.
      Excerpts from the Abstract:

"[...] It was shown that the 'Saami motif' variant of mtDNA haplogroup U5b is present in a large area outside Scandinavia. A detailed phylogeographic analysis of one of the predominant Saami mtDNA haplogroups, U5b1b, which also includes the lineages of the 'Saami motif,' was undertaken in 31 populations. The results indicate that the origin of U5b1b, as for the other predominant Saami haplogroup, V, is most likely in western, rather than eastern, Europe. Furthermore, an additional haplogroup (H1) spread among the Saami was virtually absent in 781 Samoyed and Ob-Ugric Siberians but was present in western and central European populations. The Y-chromosomal variety in the Saami is also consistent with their European ancestry. It suggests that the large genetic separation of the Saami from other Europeans is best explained by assuming that the Saami are descendants of a narrow, distinctive subset of Europeans. In particular, no evidence of a significant directional gene flow from extant aboriginal Siberian populations into the haploid gene pools of the Saami was found."

Max Ingman and Ulf Gyllensten. "A recent genetic link between Sami and the Volga-Ural region of Russia." European Journal of Human Genetics 15:1 (2007): pages 115-120. First published online on September 20, 2006.
      Saami living in southern Sweden carry the popular European mtDNA haplogroup H at a rate of 34.8%, "much higher" than among other Saamis (those in Norway have it at a rate of 4.7% and those in Finland at only 2.9% and in northern Sweden merely 2.6%), and they carry the mtDNA haplogroups I (2.2%), J (1.4%), and K (9.4%), which are likewise common in Europe but not found among other Saamis. The Saami of southern Sweden have lower frequencies of V (18.1%) and U5b (18.8%) compared to other Saamis. "Table 1: Haplogroup frequencies in different populations" further reveals that U5b1b1 isn't the only U5b lineage among Saami from southern Sweden since 15.9% carry U5b1b1 while 2.9% have other subclade(s) under U5b; they are the only Saami subgroup to carry a non-U5b1b1 variety of U5b. U5b1b1 has frequencies of 56.8% among this study's Saami from Norway, 40.6% among those from Finland, and 35.5% among those from northern Sweden. V's frequencies among the other Saami subgroups are 58.6% in northern Sweden, 37.7% in Finland, and 33.1% in Norway.
      The mtDNA haplogroup T is found among 0.4% of Saami from Norway, 0.7% of those from northern Sweden, and 2.2% of those from southern Sweden.
      Haplogroup W is found among 1.4% of Saami from Norway, 2% of Saami from northern Sweden, and 1.4% of Saami from southern Sweden.
      Haplogroup Z is found among 7.2% of Saami in Finland, 0.7% of those in northern Sweden, and 4.3% of those in southern Sweden, but absent among Saami in Norway.
      Haplogroup D5 was found in 8.7% of this study's Saami from Finland and 2.9% of those from Norway.
      Table 1 does not specify the letters for miscellaneous other mtDNA lineages that Saami carry in small quantities, just stating that 7.2% of those from southern Sweden, 1.4% from Finland, and 0.7% from Norway carry one or more other unnamed haplogroup(s). Excerpts from the Abstract:

"[...] While the majority of mtDNA diversity in the northern Swedish, Norwegian and Finnish Sami is accounted for by haplogroups V and U5b1b1, the southern Swedish Sami have other haplogroups and a frequency distribution similar to that of the Continental European population. Stratification of the southern Sami on the basis of occupation indicates that this is the result of recent admixture with the Swedish population. [...] Haplogroup Z is found at low frequency in the Sami and Northern Asian populations but is virtually absent in Europe. Several conserved substitutions group the Sami Z lineages strongly with those from Finland and the Volga-Ural region of Russia, but distinguish them from Northeast Asian representatives. This suggests that some Sami lineages shared a common ancestor with lineages from the Volga-Ural region as recently as 2700 years ago, [...]"

Alessandro Achilli, Chiara Rengo, Vincenza Battaglia, M. Pala, A. Olivieri, S. Fornarino, C. Magri, R. Scozzari, N. Babudri, A. Silvana Santachiara-Benerecetti, H. J. Bandelt, Ornella Semino, and A. Torroni. "Saami and Berbers—an unexpected mitochondrial DNA link." American Journal of Human Genetics 76:5 (March 24, 2005): pages 883-886.
      The mtDNA haplogroup U5b1b, shared between the Saami people and the Berber people of North Africa, originates about 9,000 years ago. The authors suggest that the haplogroup originated among hunter-gatherers in southwestern Europe.

M. Meinilä, S. Finnilä, and K. Majamaa. "Evidence for mtDNA admixture between the Finns and the Saami." Human Heredity 52:3 (2001): pages 160-170.
      403 people from central and northern Finland were tested. These researchers found that the Saami samples were more like the Finns of northern Finland than those of central Finland.

"Conclusions" section of the Abstract:

"The high frequency of certain mtDNA haplotypes considered to be Saami specific in the Finnish population suggests a genetic admixture, which appears to be more pronounced in northern Finland. Furthermore, the presence of haplogroup Z in the Finns and the Saami indicates that traces of Asian mtDNA genotypes have survived in the contemporary populations."

Excerpts from the "Results" section of the Abstract: "[...] Five HVS-I haplotypes, including that harboring the Saami motif and the Asian-specific haplogroup Z, were shared between the Finns and the Saami and allowed comparisons between the populations. Their frequency was highest in the Saami and decreased towards central Finland. [...]"

M. Delghandi, E. Utsi, and S. Krauss. "Saami mitochondrial DNA reveals deep maternal lineage clusters." Human Heredity 48:2 (March-April 1998): pages 108-114.
      This early study included the mitochondrial DNA sequences of 62 Saami people from northern Norway and compared and contrasted their branches to other European and circumpolar peoples.

Päivi Lahermo, A. Sajantila, P. Sistonen, M. Lukka, P. Aula, L. Peltonen, and M. L. Savontaus. "The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA." American Journal of Human Genetics 58:6 (June 1996): pages 1309-1322.
      This early study compared the DNA of Saami from Finland with that of ethnic Finns. Excerpts from the Abstract:

"[...] The Saami showed exceptionally low variation in their mtDNA restriction sites. [...] The average number of nucleotide substitutions from the mtDNA haplotype data indicated that the Finnish Saami may be closer to the Finns than to the other reference populations, whereas nuclear DNA suggested that the Finns are more closely related to the European reference populations than to the Finnish Saami. [...] We were unable to distinguish between the Finns and either the Swiss or Sardinian reference populations, whereas the Finnish Saami clearly stood apart. The Finnish Saami are distinct from other Circumarctic populations, although two of the lineages found among the Saami showed closer relationship to the Circumarctic than to the European lineages. The sequence data indicated an exceptionally high divergence for the Saami mtDNA control lineages. The distribution of the pairwise nucleotide differences in the Saami suggested that this population has not experienced an expansion similar to what was indicated for the Finns and the reference populations."

Päivi Lahermo, M. L. Savontaus, P. Sistonen, J. Béres, P. de Knijff, P. Aula, and A. Sajantila. "Y chromosomal polymorphisms reveal founding lineages in the Finns and the Saami." European Journal of Human Genetics 7:4 (May-June 1999): pages 447-458.
      Includes samples from Saami males. Excerpts from the Abstract:

"[...] The samples were analysed for polymorphisms in the Y chromosome specific Alu insertion (YAP) and six microsatellites (DYS19, DYS389-I and II, DYS390, DYS392, DYS393). The populations were also screened for the recently described Tat polymorphism. The incidence of YAP+ type was [...] absent in our further samples of Eurasian populations, including the Finns and the Saami. Aside from the Hungarians, the C allele of the Tat polymorphism was common in all the Finno-Ugric speaking populations (from 8.2% to 63.2%), with highest incidence in the Ob-Ugrian Khanty. [...] The presence of a bottleneck or founding effect in the male lineages of some of the populations, namely in the Finns and the Saami, would appear to be one likely interpretation for these findings."

Andreas O. Karlsson, Thomas Wallerström, Anders Götherström, and Gunilla Holmlund. "Y-chromosome diversity in Sweden — A long-time perspective." European Journal of Human Genetics 14:8 (2006): pages 963-970. First published online on May 24, 2006.
      Some Saami males from Jokkmokk in northern Sweden carry the Y-DNA haplogroup I1, also called I-M253. This is the most common haplogroup among ethnic Swedes and apparently originates from the arrival of Swedish men during the 14th century. Excerpts:

"[...] The twelve I1a* chromosomes in the Swedish Saami population formed a close cluster around a modal haplotype (14-12-28-23-10-11-13-14-14, DYS19-DYS389I-DYS389II-DYS390-DYS391-DYS392-DYS393-DYS385a-DYS385b), which comprises 66% of the Saami lineages within this haplogroup. The same haplotype is also the most common in Sweden. [...]"

Thiseas C. Lamnidis, Kerttu Majander, Choongwon Jeong, Elina Salmela, Anna Wessman, Vyacheslav Moiseyev, Valery Khartanovich, Oleg Balanovsky, Matthias Ongyerth, Antje Weihmann, Antti Sajantila, Janet Kelso, Svante Pääbo, Päivi Onkamo, Wolfgang Haak, Johannes Krause, and Stephan Schiffels. "Ancient Fennoscandian genomes reveal origin and spread of Siberian ancestry in Europe." Nature Communications 9 (November 27, 2018): article number 5018.
      This study especially analyzes the autosomal DNA of Saami and Finnish people. A modern Saami's genome was compared to the genomes extracted from the bones of deceased individuals from hundreds and thousands of years ago from Finland and Russia's Kola Peninsula, as well as to 1,320 samples from modern Europeans and Asians.

Excerpts from the "Introduction":

"[...] Our results suggest that a new genetic component with strong Siberian affinity first arrived in Europe at least 3500 years ago, as observed in our oldest analysed individuals from northern Russia. [...]"

Excerpts from the "Results" section: [...] Within modern Europeans, the Siberian genetic component (light purple) is maximized in the Mari and Saami, and can also be seen in similar proportions in the historical Saami from Chalmny Varre and in two of the Levänluhta individuals."

Excerpts from the "Discussion" section: "[...] The novel genome-wide data presented here from ancient individuals from Finland opens new insights into Finnish population history. Two of the three higher-coverage genomes and all four low-coverage genomes from Levänluhta individuals showed low genetic affinity to modern-day Finnish speakers of the area. Instead, an increased affinity was observed to modern-day Saami speakers, [...] These results suggest that the geographic range of the Saami extended further south in the past, [...]"

Kristiina Tambets, Bayazit Yunusbayev, Georgi Hudjashov, Anne-Mai Ilumäe, Siiri Rootsi, Terhi Honkola, Outi Vesakoski, Quentin Atkinson, Pontus Skoglund, Alena Kushniarevich, Sergey Litvinov, Maere Reidla, Ene Metspalu, Lehti Saag, Timo Rantanen, Monika Karmin, Jüri Parik, Sergey I. Zhadanov, Marina Gubina, Larisa D. Damba, Marina Bermisheva, Tuuli Reisberg, Khadizhat Dibirova, Irina Evseeva, Mari Nelis, Janis Klovins, Andres Metspalu, Tõnu Esko, Oleg Balanovsky, Elena Balanovska, Elza K. Khusnutdinova, Ludmila P. Osipova, Mikhail Voevoda, Richard Villems, Toomas Kivisild, and Mait Metspalu. "Genes reveal traces of common recent demographic history for most of the Uralic-speaking populations." Genome Biology 19 (September 21, 2018): article number 139.
      This autosomal DNA admixture study included identical-by-descent (IBD) segment analysis and found that most Uralic-speaking peoples, including the Saami, "share a distinct ancestry component of likely Siberian origin". This Siberian element peaks in the Nenets, Kets, and Selkups of northwestern and north-central Siberia.

Excerpts from the "Results" section:

"[...] Indeed, Finnic speakers and Saami share more IBD segments with their distant linguistic relatives in VUR (Mari, Komi and Udmurts) and even with West Siberian Uralic speakers than NE Europeans in the control group (blue cells, Fig. 4 A). In addition, Saami and Karelians show a significant excess of IBD segment sharing with several non-Uralic peoples of Siberia (green cells, Fig. 4 A). [...] the Uralic-speaking 'Finnic' and 'Saami' clusters have a detectable (more than 3%) amount of admixture with West Siberian sources (Fig. 5b), even if we leave aside the contribution from already admixed Western Siberian 'Mansi' cluster (Fig. 5 and Additional file 3: Figure S5). In 'Saami', the Siberian influence is more notable as well as diverse: it is linked both with 'Samoyed' (consisting here of Nenets, Selkups and neighbouring Kets) and with West/Central Siberian ('W-C-Sib') clusters (Fig. 5b). [...]"

Excerpts from the "Discussion" section:

"[...] Saami stand out from other NE European populations by drawing up to 30% of their autosomal ancestry from Asian genetic components (Fig. 3). They also display long-range genetic affinities with both the Uralic- and non-Uralic-speaking Siberians (Figs. 4 and 5). This is probably because the ancestors of the modern Saami (a) have lived in isolation from Southern and Eastern European gene flow and (b) have had more contacts with Nordic peoples on both sides of the Ural Mountains, driven by the similar life-style of the Arctic people. Curiously enough, the mtDNA heritage of Saami can be considered as predominantly (< 90%) Western Eurasian [30]. [...]"

Jeroen R. Huyghe, Erik Fransen, Samuli Hannula, Lut Van Laer, Els Van Eyken, Elina Mäki-Torkko, Pekka Aikio, Martti Sorri, Matthew J. Huentelman, and Guy Van Camp. "A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies." European Journal of Human Genetics 19 (2011): pages 347-352. First published online on December 8, 2010.
      This autosomal DNA study includes data from 344 Saami people from northern Finland, and the portions of their study that used data from HapMap reference panels focused on 100 of those Saami. Excerpts from the Abstract:

"[...] 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). [...]"

Iosif Lazaridis, Nick Patterson, Alissa Mittnik, Gabriel Renaud, Swapan Mallick, Karola Kirsanow, Peter H. Sudmant, Joshua G. Schraiber, Sergi Castellano, Mark Lipson, Bonnie Berger, Christos Economou, Ruth Bollongino, Qiaomei Fu, Kirsten I. Bos, Susanne Nordenfelt, Heng Li, Cesare de Filippo, Kay Prüfer, Susanna Sawyer, Cosimo Posth, Wolfgang Haak, Fredrik Hallgren, Elin Fornander, Nadin Rohland, Dominique Delsate, Michael Francken, Jean-Michel Guinet, Joachim Wahl, George Ayodo, Hamza A. Babiker, Graciela Bailliet, Elena Balanovska, Oleg Balanovsky, Ramiro Barrantes, Gabriel Bedoya, Haim Ben-Ami, Judit Bene, Fouad Berrada, Claudio M. Bravi, Francesca Brisighelli, George B. J. Busby, Francesco Cali, Mikhail Churnosov, David E. C. Cole, Daniel Corach, Larissa Damba, George van Driem, Stanislav Dryomov, Jean-Michel Dugoujon, Sardana A. Fedorova, Irene Gallego Romero, Marina Gubina, Michael Hammer, Brenna M. Henn, Tor Hervig, Ugur Hodoglugil, Aashish R. Jha, Sena Karachanak-Yankova, Rita Khusainova, Elza Khusnutdinova, Rick Kittles, Toomas Kivisild, William Klitz, Vaidutis Kučinskas, Alena Kushniarevich, Leila Laredj, Sergey Litvinov, Theologos Loukidis, Robert W. Mahley, Béla Melegh, Ene Metspalu, Julio Molina, Joanna Mountain, Klemetti Näkkäläjärvi, Desislava Nesheva, Thomas Nyambo, Ludmila Osipova, Jüri Parik, Fedor Platonov, Olga Posukh, Valentino Romano, Francisco Rothhammer, Igor Rudan, Ruslan Ruizbakiev, Hovhannes Sahakyan, Antti Sajantila, Antonio Salas, Elena B. Starikovskaya, Ayele Tarekegn, Draga Toncheva, Shahlo Turdikulova, Ingrida Uktveryte, Olga Utevska, René Vasquez, Mercedes Villena, Mikhail Voevoda, Cheryl A. Winkler, Levon Yepiskoposyan, Pierre Zalloua, Tatijana Zemunik, Alan Cooper, Cristian Capelli, Mark G. Thomas, Andres Ruiz-Linares, Sarah A. Tishkoff, Lalji Singh, Kumarasamy Thangaraj, Richard Villems, David Comas, Rem Sukernik, Mait Metspalu, Matthias Meyer, Evan E. Eichler, Joachim Burger, Montgomery Slatkin, Svante Pääbo, Janet Kelso, David Reich, and Johannes Krause. "Ancient human genomes suggest three ancestral populations for present-day Europeans." Nature 513 (September 18, 2014): pages 409-413.
      "Extended Data Figure 7: Evidence for Siberian gene flow into far north-eastern Europe" explains that certain ethnicities of northeastern Europe, including Saami people, "share more alleles with Han Chinese than with other Europeans who are arrayed in a cline from Stuttgart to Lithuanians/Estonians in a plot of f4(Test, BedouinB; Han, Mbuti) against f4(Test, BedouinB; MA1, Mbuti)."

A. Johansson, M. Ingman, S. J. Mack, H. Erlich, and U. Gyllensten. "Genetic origin of the Swedish Sami inferred from HLA class I and class II allele frequencies." European Journal of Human Genetics 16:11 (November 2008): pages 1341-1349. First published online on May 14, 2008. This is a study of human leukocyte antigen (HLA) haplotypes on chromosome 6 that regulate the immune system. The researchers concluded that 87% of Saami DNA is of European origin while 13% is of Asian origin. They say "Our HLA analyses indicate a higher proportion of Asian ancestry in the Sami than shown by previous genetic studies." The Asian HLA alleles they found in the Saami from Sweden were B*4001, A*2402, DRB1*0901, and DRB1*1101.

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