Estonian Genetics: Abstracts and Summaries

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The Estonians (eestlased) live in Estonia (Eesti), a small country bordering the Baltic Sea in northeastern Europe north of Latvia, west of Russia, and south of Finland (but not connected by land to Finland). The Estonian language is a Finnic language related to the Finnish spoken in Finland and also to the Karelian language of northwestern Russia (in land that was part of Finland until 1940). Estonian is more distantly related to the Ugric languages like Hungarian. Estonian has multiple northern and southern dialects.

The most common Y-DNA (paternal) haplogroup among Estonian men is N, found among 34 percent of those tested, followed by R1a, found in about 32 percent. I1 is found in 15%, R1b in 8%, T in 3.5%, I2* and/or I2a in 3%, E1b1b in 2.5%, J2 in 1%, I2b in 0.5%, and Q in 0.5%.

The most common mtDNA (maternal) haplogroup among Estonians is H, found among 43.5 percent of those tested, of which 19% belong to H1+H3. The next most frequent mtDNA haplogroup is U, found among 24.5% of whom about 16% belong to U5, about 7% to U4, about 1% to U2, and about zero percent to U3. J is found in about 10%, T in 8%, V in 4%, K in 2.5%, W in 2.5%, I in 1%, and X2 in 1%, while 3% belong to one or more other haplogroup(s).

According to Hans Eiberg of the Department of Cellular and Molecular Medicine at the University of Copenhagen, 99% of people in Estonia have blue eyes.

Major studies of Estonians

Leiu Heapost. "A population genetic characterization of Estonians." Anthropologischer Anzeiger 58:2 (June 2000): pages 137-154. (mirror) In English and German. English version of the abstract:
This paper discusses the genetic characterization of Estonians on the basis of eight blood group systems, and the traits of PTC tasting and colour blindness in 40 Estonian population samples from various parts of the country. The allele frequencies for the total Estonian population and for the four most different regions are presented. The survey shows genetic heterogeneity within the Estonians; the greatest genetic differences were observed in West-East direction. The West-Islands, West, and North Estonia differ from the other regions (East, South-East, also South-West and Central Estonia--which form a compact cluster). The mean allele frequencies of the Estonians are comparable to those typical for populations from North and East Europe, but the allele frequencies of Estonians are characterized by tendencies in two opposite (western and eastern) directions, like in other Finno-Ugric populations and concerning other anthropological traits. Estonians reveal closest similarities to the nearest neighbouring populations, regardless of their language group. The genetic heterogeneity and antagonistic traits in Estonians seem to be traces of the original genetic structure of Finno-Ugric ancestor populations which were neither Mongoloid nor Caucasoid.

Of related interest: Virpi Laitinen, Päivi Lahermo, Pertti Sistonen, and Marja-Liisa Savontaus. "Y-chromosomal diversity suggests that Baltic males share common Finno-Ugric speaking forefathers." Human Heredity 53 (2002): pages 68-78. The Latvians and Lithuanians were found to be closely related to the Estonians in relation to paternal (Y-DNA) ancestry.

Fulvio Cruciani, Roberta La Fratta, Beniamino Trombetta, Piero Santolamazza, Daniele Sellitto, Eliane Beraud Colomb, Jean-Michel Dugoujon, Federica Crivellaro, Tamara Benincasa, Roberto Pascone, Pedro Moral, Elizabeth Watson, Bela Melegh, Guido Barbujani, Silvia Fuselli, Giuseppe Vona, Boris Zagradisnik, Guenter Assum, Radim Brdicka, Andrey I. Kozlov, Georgi D. Efremov, Alfredo Coppa, Andrea Novelletto, and Rosaria Scozzari. "Tracing Past Human Male Movements in Northern/Eastern Africa and Western Eurasia: New Clues from Y-Chromosomal Haplogroups E-M78 and J-M12." Molecular Biology and Evolution 24(6) (June 2007): pages 1300-1311. First published online on March 10, 2007. This large study of populations from Europe, Asia, and Africa confirmed that all signs point to the Y-DNA haplogroup E-M78 (E1b1b1a1) having come from northeastern Africa originally. This African lineage did make its way north to Estonia. "Table 1: Frequencies (%) of the Y-chromosome E-M78 sub-haplogroups in the 81 populations analyzed" tells us that of 74 Estonian males who were sampled, 4.05% (3 of them) were in E-M78 while 4.05% were in E-V13.

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. 117 mtDNA samples and 118 Y-DNA samples were obtained from Estonians and compared with the people of Setoland (the region in southeastern Estonia inhabited by Seto people, whose language is related to Estonian), Latvia, Lithuania, Finland, Karelia, and Sweden, with ethnic Russian data also incorporated. The total number of samples exceeded 1,200. 48 of the 117 mtDNA samples belonged to haplogroup H and 26 to U. The Y-DNA haplogroup R1a1 was found in 44 of the 118 Y-DNA samples, N3 in 40, and I1a in 14. Other haplogroups found among Estonians are named on the tables along with their frequencies. Excerpt from the discussion of Y-DNA results:

"The haplotype variation in Estonia suggests an admixture of Baltic and Finno-Ugric haplotypes."


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