Finnish Genetics: Abstracts and Summaries

by Kevin Alan Brook

Family Tree DNA - Genetic testing service
Family Tree DNA: Genetic Testing Service
Many Finns test through Family Tree DNA, which has a large customer database of Finns, Karelians, Norwegians, Swedes, Samis, and others. Their MyOrigins ethnicity admixture tool includes a Finland-specific reference population. Their "Finland DNA Project" administered by Lauri Koskinen and Marja Pirttivaara has over 6000 members who've tested their Y-DNA and/or mtDNA haplogroups, and if you're Finnish you can join that after you've received your results. Also hosted by them is the "Forest Finn DNA" for Scandinavianized descendants of Finns who settled in Sweden and Norway.

This page is a guide to the genetics of the ethnic Finns of Finland and Norway (they are called Kvens in the latter country), not the Karelians of northwestern Russia.

The Finnish language is in the Finnic sub-group of the Finno-Ugric branch of Uralic languages. Of all languages in the world, Finnish is most similar to Karelian and Estonian, but farther from Sami and other Uralic languages.

Family Tree DNA's "Finland DNA Project" includes some people who aren't true Finns, but among participants who are ethnic Finns their Y-DNA haplogroups include A-M31, E-M35, E-V13, I-M170, I-M253, I-L258, I-BY2572, L813, N-M231, N-L1022, N-CTS10082, N-Z5893, N-Z1940, N-CTS8445, R-M198, and other haplogroups. Among all project members, haplogroups within N (of eastern origin) are the most common overall with around 59-60% of male members in that, followed by I1 representing about 30% of male members, R1a held by about 3%, R1b by 3%, and the rest including E, J, and Q. Only about 1% of Finnish men have E1b1b1, from Neolithic Farmers from further south in West Asia.

Scientists believe the Y haplogroup N1c originated in Asia and entered Europe between 12,000 and 14,000 years ago. N1c is found not only among Finns but also among natives of Estonia, Latvia, Lithuania, and Russia. N1c is particularly commonplace among Finnic and Uralic speakers of northeastern Europe whom besides Estonians include Maris, Mordvins, Udmurts, and Komis. N1c1 is a subclade that's especially common among Finns, Estonians, and Sami but also found among Norwegians.

On the mtDNA side, members of the "Finland DNA Project" belong most often to the mtDNA haplogroups H (about 40%) and U (about 30%). The remainder belong to a medley of D, I, J, HV, R, T, V, W, X, and Z. Finns' mtDNA haplogroups are overwhelmingly European rather than Asian. Haplogroup W is more common among Finns than among populations in the rest of Europe. According to National Geographic's Genographic Project, Finns, Estonians, and Samis are known for having high levels of haplogroup U5 compared to other Europeans. Among Finnish customers of 23andMe, an example of one of their mtDNA subclades of H is H1f.

Overall, as we know from autosomal studies, Finnish ancestry derives primarily from Europe, especially the Baltic region, and only in small amounts from Siberia (North Asia), less Siberian than Samis have.

According to "The ALlele FREquency Database" compiled by Kenneth K. Kidd of Yale University, between 3 and 6 percent of Finns have the 1540C allele on their EDAR (Ectodysplasin A receptor) gene. This allele originated in East Asia and is uncommon in most of Europe except among peoples with some East/North Asian ancestry like Hungarians and Ashkenazim.

Finns aren't closely related to the Sami people, autosomally. Of all populations, Finns are closest to Estonians followed by Swedes.

There are noteworthy autosomal and uniparental differences between Eastern Finns and Western Finns. Eastern Finns have more (5-10%) of a pull in the direction of North Asia than Western Finns (3-4%) do, and their haplogroup distributions are different.

Major studies of Finns

T. Lappalainen, S. Koivumäki, E. Salmela, K. Huoponen, P. Sistonen, M. L. Savontaus, and P. Lahermo. "Regional differences among the Finns: A Y-chromosomal perspective." Gene 376:2 (July 19, 2006): pages 207-215. First published online on March 18, 2006.
      The Y chromosomes of 536 unrelated Finnish males from eastern and western subpopulations of Finland were studied. The 4 most common Y-DNA haplogroups among Finns are N1c (59% frequency), I1a (28%), R1a (5%), and R1b (3.5%), together representing about 95.5%. N1c is more common in eastern Finland while I1a is considerably more common in western Finland. Excerpts from the Abstract:

"Our results gave further support to the existence of a sharp genetic border between eastern and western Finns so far observed exclusively in Y-chromosomal variation. [...] It seems probable that early migrations from Finno-Ugric sources affected the whole country, whereas subsequent migrations from Scandinavia had an impact mainly on the western parts of the country. The contacts between Finland and neighboring Finno-Ugric, Scandinavian and Baltic regions are evident. However, there is no support for recent migrations from Siberia and Central Europe. [...] Early assumptions of the homogeneity of the isolated Finnish population have now proven to be false, [...]"

A. M. Neuvonen, M. Putkonen, S. Översti, T. Sundell, P. Onkamo, A. Sajantila, and J. U. Palo. "Vestiges of an Ancient Border in the Contemporary Genetic Diversity of North-Eastern Europe." PLoS One 10:7 (July 1, 2015): e0130331.
      Farming came later to Finland than to most of Europe. This study of mtDNA and Y-DNA haplogroups differentiated between remnants of the previous hunter-gatherer populations and haplogroups contributed by the later-arriving farmers. Excerpts from the Abstract:

"The distribution of these uniparental markers revealed a northeastern bias for hunter-gatherer haplogroups, while haplogroups associated with the farming lifestyle clustered in the southwest. In addition, a correlation could be observed between more ancient mitochondrial haplogroup age and eastern concentration. These results coupled with prior archeological evidence suggest the genetic northeast/southwest division observed in contemporary Finland represents an ancient vestigial border between Mesolithic and Neolithic populations undetectable in most other regions of Europe."

Toomas Haller, Liis Leitsalu, Krista Fischer, Marja-Liisa Nuotio, Tõnu Esko, Dorothea Irene Boomsma, Kirsten Ohm Kyvik, Tim D. Spector, Markus Perola, and Andres Metspalu. "MixFit: Methodology for Computing Ancestry-Related Genetic Scores at the Individual Level and Its Application to the Estonian and Finnish Population Studies." PLoS ONE 12:1 (January 20, 2017): e0170325.
      This evaluates autosomal DNA SNPs. Figure 2 shows regional variation of the proportions of South Finnish, North Finnish, Estonian, Swedish, and Danish ancestral components within Finland.

Alicia R. Martin, Konrad J. Karczewski, Sini Kerminen, Mitja I. Kurki, Antti-Pekka Sarin, Mykyta Artomov, Johan G. Eriksson, Tõnu Esko, Giulio Genovese, Aki S. Havulinna, Jaakko Kaprio, Alexandra Konradi, László Korányi, Anna Kostareva, Minna Männikkö, Andres Metspalu, Markus Perola, Rashmi B. Prasad, Olli Raitakari, Oxana Rotar, Veikko Salomaa, Leif Groop, Aarno Palotie, Benjamin M. Neale, Samuli Ripatti, Matti Pirinen, and Mark J. Daly. "Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland." The American Journal of Human Genetics 102:5 (May 3, 2018): pages 760-775.

Sini Kerminen, Aki S. Havulinna, Garrett Hellenthal, Alicia R. Martin, Antti-Pekka Sarin, Markus Perola, Aarno Palotie, Veikko Salomaa, Mark J. Daly, Samuli Ripatti, and Matti Pirinen. "Fine-Scale Genetic Structure in Finland." G3: Genes, Genomes, Genetics 7:10 (October 1, 2017): pages 3459-3468.
      This study of the autosomal DNA of 2,376 Finnish people came from the FINRISK Study survey of 1997. All participants had both of their parents having been born in nearby communities. These scientists "defined geographically the main genetic division between Eastern and Western Finland using precisely located samples based on parents' birthplaces."

Stephen Leslie, G. Hellenthal, S. Myers, P. Donnelly, and International Multiple Sclerosis Genetics Consortium. "Fine-scale population structure in Europe." A paper presented at the American Society of Human Genetics (ASHG) 2014 conference on October 20, 2014.
      This study of the autosomal DNA of 6,209 people, mostly Western Europeans, explored population structure and found "a striking association between the inferred [genetic] clusters and geography." They "see clear evidence of clusters that exclusively contain samples from a single country. At a high level we see: the Finns are the most differentiated from the rest of Europe (as might be expected)"

Elina Salmela, Tuuli Lappalainen, Jianjun Liu, Pertti Sistonen, Peter M. Andersen, Stefan Schreiber, Marja-Liisa Savontaus, Kamila Czene, Päivi Lahermo, Per Hall, and Juha Kere. "Swedish Population Substructure Revealed by Genome-Wide Single Nucleotide Polymorphism Data." PLoS ONE 6(2) (February 9, 2011): e16747.
      The autosomal DNA genomes of 1525 Swedes were autosomally compared to 280 Finns (from both Eastern Finland and Western Finland) along with Germans, Brits, and Russians.

Excerpts from the body of the paper:

"[...] the Finns seem to be an exception to this rule: they do not appear genetically very close to the Swedes although they are geographically nearby. However, the Finns tend to show inflated genetic distances relative to [all] the [other] European populations in general, not only relative to the Swedes. [...] Northern Swedes and Eastern Finns exhibited longer genetic distances than their geographic location would imply. [...] Of the Swedes, Norrland and Svealand individuals were closest to Finns, and the Finns who had closest affinity to the Swedes were mainly Swedish-speaking Ostrobothnians (SSOB). Interestingly, the neighboring Swedish and Finnish provinces in the north, Norrbotten (NBO) and Northern Ostrobothnia (NOB), did not appear very close in the MDS plot; instead, Norrbotten seemed to show closer affinity to Western Finland. [...]"

Tuuli Lappalainen, V. Laitinen, Elina Salmela, P. Andersen, K. Huoponen, M.-L. Savontaus, and Päivi Lahermo. "Migration Waves to the Baltic Sea Region." Annals of Human Genetics 72:3 (May 2008): pages 337-348. First published online on February 21, 2008.
      This study incorporates mtDNA and Y-DNA samples from Finns as well as Karelians and people from Estonia, Sweden, and elsewhere. The total number of samples exceeded 1,200. They found that Finns and Swedes have different haplotypes within the Y-DNA haplogroup I1a.

Ulf Hannelius, Elina Salmela, Tuuli Lappalainen, Gilles Guillot, Cecilia M. Lindgren, Ulrika von Döbeln, Päivi Lahermo, and Juha Kere. "Population substructure in Finland and Sweden revealed by the use of spatial coordinates and a small number of unlinked autosomal SNPs." BMC Genetics 9:54 (2008). Published online on August 19, 2008.
      Autosomal single nucleotide polymorphisms (SNPs) were genotyped from 657 people from Finland and 2,044 people from Sweden, and short tandem repeats (STRs) were genotyped from 465 people from Finland. The Swedish samples in this study weren't limited to ethnic Swedes. All of the Finnish samples came from middle-aged men who had all 4 of their grandparents born in the same geographical area.

Excerpt from the Results section:

"[...] We saw significant population structure within Finland but not between the countries or within Sweden, and isolation by distance within Finland and between the countries. [...]"

Excerpt from the section titled "Genetic differences between Swedes and Finns":

"The principal component analysis clearly separated the Finnish regions and Eastern and Western counties from the Swedish as well as the Finnish regions and counties from each other (Figure 2C and 2D). Geneland showed three clusters (Figure 3B), roughly corresponding to Sweden, Eastern Finland and Western Finland. Thus, Geneland was able to correctly identify the country of origin of the individuals despite the lower quality of the Swedish data."

Jukka U. Palo, Markus Pirttimaa, Auli Bengs, Vivian Johnsson, Ismo Ulmanen, Matti Lukka, Bjarne Udd, and Antti Sajantila. "The effect of number of loci on geographical structuring and forensic applicability of Y-STR data in Finland." International Journal of Legal Medicine 122:6 (2008): pages 449-456.
      Ethnic Finnish men from western, central, and eastern regions of Finland participated in this Y chromosome study. The haplogroup I1a is found among some ethnic Finns in western Finland, who are more closely genetically related to Swedes than eastern Finns are. Y-STR variation significantly differs between Swedes living in Larsmo in western Finland and ethnic Finns. Excerpts from the Abstract:

"The Y-chromosomal diversity among Finnish males is characterized by low diversity and substantial geographical substructuring. In a 12-locus data set (PowerPlexY), especially the eastern parts of the country showed low levels of variation, and the western, middle, and eastern parts of Finland differed from each other by their Y-short tandem repeat (STR) haplotype frequencies (Palo et al., Forensic Sci Int Genet 1:120-124, 2007). In this paper, we have analyzed geographical patterns of Y-STR diversity using both 12-locus (PowerPlexY) and 17-locus (Yfiler) data sets from the same set of geographically structured samples. In the larger data set, the haplotype diversity is significantly higher, as expected. The geographical distribution of haplotypes is similar in both data sets, but the level of interregional differences is significantly lower in the Yfiler data. [...]"

Mari Nelis, Tõnu Esko, Reedik Mägi, Fritz Zimprich, Alexander Zimprich, Draga Toncheva, Sena Karachanak, Tereza Piskáčková, Ivan Balaščák, Leena Peltonen, Eveliina Jakkula, Karola Rehnström, Mark Lathrop, Simon Heath, Pilar Galan, Stefan Schreiber, Thomas Meitinger, Arne Pfeufer, H-Erich Wichmann, Béla Melegh, Noémi Polgár, Daniela Toniolo, Paolo Gasparini, Pio D'Adamo, Janis Klovins, Liene Nikitina-Zake, Vaidutis Kučinskas, Jūratė Kasnauskienė, Jan Lubinski, Tadeusz Debniak, Svetlana Limborska, Andrey Khrunin, Xavier Estivill, Raquel Rabionet, Sara Marsal, Antonio Julià, Stylianos E. Antonarakis, Samuel Deutsch, Christelle Borel, Homa Attar, Maryline Gagnebin, Milan Macek, Michael Krawczak, Maido Remm, and Andres Metspalu. "Genetic Structure of Europeans: A View from the North-East." PLoS ONE 4(5) (May 8, 2009): e5472.
      3,112 European people (including among others Finns, Swedes, Estonians, Russians, Latvians, Lithuanians) were genetically tested. The Finnish samples come from Helsinki and from "a young internal subisolate of Kuusamo".

Monica Leu, Keith Humphreys, Ida Surakka, Emil Rehnberg, Juha Muilu, Päivi Rosenström, Peter Almgren, Juha Jääskeläinen, Richard P. Lifton, Kirsten Ohm Kyvik, Jaakko Kaprio, Nancy L. Pedersen, Aarno Palotie, Per Hall, Henrik Grönberg, Leif Groop, Leena Peltonen, Juni Palmgren, and Samuli Ripatti. "NordicDB: a Nordic pool and portal for genome-wide control data." European Journal of Human Genetics 18 (2010): pages 1322-1326. Published online on July 28, 2010.
      1,096 samples from Finland combine with 2,458 samples from Sweden in this study. Figure 1a displays genetic variation between the Swedish ("SWE"), Danish, and Finnish populations. Another version of the same genetic variation map is here. Some western Finns were found to overlap with Swedes.

Eveliina Jakkula, Karola Rehnström, Teppo Varilo, Olli P.H. Pietiläinen, Tiina Paunio, Nancy L. Pedersen, Ulf deFaire, Marjo-Riitta Järvelin, Juha Saharinen, Nelson Freimer, Samuli Ripatti, Shaun Purcell, Andrew Collins, Mark J. Daly, Aarno Palotie, and Leena Peltonen. "The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population." The American Journal of Human Genetics 83:6 (December 2008): pages 787-794.
      Among other things, there are substantial autosomal differences between Western Finns and Eastern Finns. Excerpts from the Abstract:

"[...] Here, we present an example in one of the best-known founder populations by scrutinizing ten distinct Finnish early- and late-settlement subpopulations. By determining genetic distances, homozygosity, and patterns of linkage disequilibrium, we demonstrate that population substructure, and even individual ancestry, is detectable at a very high resolution and supports the concept of multiple historical bottlenecks resulting from consecutive founder effects. [...] This study provides an example of the power of GWA data sets to demonstrate stratification caused by population history even within a seemingly homogeneous population, like the Finns. [...]"

Rick A. Kittles, Markus Perola, Leena Peltonen, Andrew W. Bergen, Richard A. Aragon, Matti Virkkunen, Markku Linnoila, David Goldman, and Jeffrey C. Long. "Dual Origins of Finns Revealed by Y Chromosome Haplotype Variation." The American Journal of Human Genetics 62:5 (May 1998): pages 1171-1179. Excerpts from the Abstract:

"[...] Despite the purported isolation of the population, levels of gene diversity for the Finns at autosomal and mitochondrial DNA loci are indistinguishable from those of other Europeans. Thus, mixed or dual origins for the Finns have been proposed. Here we present genetic evidence for the dual origins of Finns by evaluating the pattern of Y chromosome variation in 280 unrelated males from nine Finnish provinces. Phylogenetic analysis of 77 haplotype configurations revealed two major star-shaped clusters of Y haplotypes, indicative of a population expansion from two common Y haplotypes. Dramatic and quite significant differences in Y haplotype variation were observed between eastern and western regions of Finland, revealing contributions from different paternal types. The geographic distribution and time of expansion for the two common Y haplotypes correlate well with archeological evidence for two culturally and geographically distinct groups of settlers. Also, a northeastern to southwestern gradient of Y haplotype frequencies provides convincing evidence for recent male migration from rural areas into urban Finland."

Heidi K. Soini, Jukka S. Moilanen, Saara Finnila, and Kari Majamaa. "Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus." BMC Research Notes 5:350 (July 10, 2012).
      The following mtDNA haplogroups were carried by Finnish diabetics in this study: H, H1, H1a, H1ap1, H1b, H1b1, H1c, H1f1, H1f1a, H1n4, H1q1, H3as, H3h1, H4a1a1, H13a2b, H27a, I1a1a, J1c2, J1c7a, K1a1b1b, K1c1c, R1a, T1a1, T2a1, T2f1a, U2e, U5a1a1, U5a1b, U5a2a1, U5a2a1a, U5b1b, U5b1b1, U5b1b2, V1a1a, V7a1, V8, W1b1, and W1e.

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