Lithuanian Genetics: Abstracts and Summaries

by Kevin Alan Brook

Family Tree DNA - Genetic testing service
Family Tree DNA: Genetic Testing Service
Genetic testing enables you to compare your genes with other families and ethnic groups. The database includes not only Lithuanians but also Latvians, Poles, Russians, Swedes, and so many other types of people. The "Lithuanian DNA" project established by David Zincavage and later administered by Vidmantas Povilionis is open to all people who sign up for Family Tree DNA who have Lithuanian ancestry paternally and/or maternally.

The Lithuanian nation exists northeast of Poland, south of Latvia, and north of Belarus, and is bordered on its west by the Baltic Sea.

The Lithuanian and Latvian languages are part of the Baltic language family. They are similar but not mutually intelligible. Lithuanian bears many similarities with Sanskrit and Latin.

Roughly 45 percent of Lithuanian men carry types within the Y-DNA (paternal DNA) haplogroup R1a. This haplogroup, especially R1a1a, arrived in eastern Europe when the Indo-Europeans migrated to the Ukrainian-Russian steppe, if they originated in Central Asia, although this group may have formed in eastern Europe itself (in the Pontic-Caspian steppelands).

A little over a third of Lithuanian men carry the Y-DNA haplogroup N3, later renamed N1c. Indeed, the haplogroup N1c1 shows up for some Lithuanian men in Family Tree DNA's Lithuanian DNA project, along with some men who are simply coded as being part of N. The study "The Arrival of Siberian Ancestry Connecting the Eastern Baltic to Uralic Speakers further East" by Lehti Saag, Margot Laneman, et al. in Current Biology 29:10 (May 9, 2019) on pages 1701-1711 discusses the arrival of branches of N3a3 into ancient Estonia no later than the 400s B.C.E. Razib Khan concluded that N3a ancestry in Eastern Baltic peoples, including Lithuanians, must have come from Siberia westward into the Baltics and into Finland.

About a third of Lithuanians carry the mtDNA (maternal DNA) haplogroup H. Haplogroups in the H family are very common throughout Europe and the Near East.

Some Lithuanians carry the Balto-Slavic mtDNA haplogroup W6a. An ancient sample from Plinkaigalis, Lithuania from the Corded Ware culture circa 3260-2630 B.C.E. carried W6a according to a 2017 study by Alissa Mittnik and her colleagues. W6a was also found among ancient Corded Ware inhabitants of Esperstedt, Germany circa 2566-2477 B.C.E. and among Yamnaya people at the Lopatino II site in Russia circa 3500-2700 B.C.E.

Blond hair is very common among Lithuanians, and so is brown hair. Less common is red hair. Among 23andMe's customers, 10-12% of Lithuanians carry the T red hair allele in the R160W gene (one of the highest frequencies in the world), 4-6% carry the T red hair allele in the R151C gene, and 0-2% carry the C red hair allele in the D294H gene.

Major studies of Lithuanians

Dalia Kasperaviciute, Vaidutis Kucinskas, and Mark Stoneking. "Y chromosome and mitochondrial DNA variation in Lithuanians." Annals of Human Genetics 68, Part 5 (September 2004): pages 438-452.
      180 mtDNA and 196 Y-DNA samples were collected from Lithuanians. mtDNA haplogroups found among Lithuanians include H (and its subgroups like H1 and H8), V, U, K, U4, T, and others. 33.3 percent of Lithuanians have H itself. In terms of Y-DNA, 44.9% of Lithuanians studied belong to the haplogroup R1a, 36.7% to N3, 10.2% to BR* (xDE,JR), 5.1% to P* (xR1a), 2.6% to DE, and 0.5% to K* (xN3,P). Abstract:

The genetic composition of the Lithuanian population was investigated by analysing mitochondrial DNA hypervariable region 1, RFLP polymorphisms and Y chromosomal biallelic and STR markers in six ethnolinguistic groups of Lithuanians, to address questions about the origin and genetic structure of the present day population. There were no significant genetic differences among ethnolinguistic groups, and an analysis of molecular variance confirmed the homogeneity of the Lithuanian population. MtDNA diversity revealed that Lithuanians are close to both Slavic (Indo-European) and Finno-Ugric speaking populations of Northern and Eastern Europe. Y-chromosome SNP haplogroup analysis showed Lithuanians to be closest to Latvians and Estonians. Significant differences between Lithuanian and Estonian Y chromosome STR haplotypes suggested that these populations have had different demographic histories. We suggest that the observed pattern of Y chromosome diversity in Lithuanians may be explained by a population bottleneck associated with Indo-European contact. Different Y chromosome STR distributions in Lithuanians and Estonians might be explained by different origins or, alternatively, be the result of some period of isolation and genetic drift after the population split.
      The authors' research on this subject was outlined in a poster presentation titled "Genetic composition of the Lithuanians revealed by mitochondrial DNA and Y chromosome variation" that they presented at HUGO's HGM2004 Human Genome Meeting in April 2004 in Berlin, Germany.

      An erratum for the above study was published in the July 2005 issue (69, Part 4) of Annals of Human Genetics on page 499.

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.
      Y-DNA chromosome bialelic markers were found to be similar between Lithuanians and Latvians and these two groups also had similarities in that respect with Estonians and Mari (Finno-Ugric peoples).

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.
      163 mtDNA samples and 164 Y-DNA samples were obtained from Lithuanians and compared with the people of Latvia, Estonia, Finland, Karelia, Setoland, and Sweden, with ethnic Russian data also incorporated. The total number of samples exceeded 1,200. The mtDNA Haplogroup H was found among 76 of the 163 Lithuanians (17.2% in H, 3.7% in H1a, 5.5% in H1b, 12.3% in H1, 1.2% in H2a1, 0.6% in H3, 3.1% in H5, and 3.1% in H6 for a total of 46.7% within the H group) and U was found in 29 of them. The Y-DNA haplogroup N3 was found in 72 (43.9%) of the samples and R1a1 among 56 (34.1%) of them, while I1a was only found in 8 (4.9%); I1b was found in 4.9%, R1b also in 4.9%, and all other haplogroups had frequencies less than 2% each, as listed in Table 1.

Ingrida Uktverytė, M. Li, Mark Stoneking, and Vaidutis Kučinskas. "mtDNA haplogroups in the population of Lithuania." A paper presented at The European Human Genetics Conference 2012 in Nürnberg, Germany, June 23-26, 2012. Abstract is published in the conference's abstracts book released by Nature Publishing Group in 2012 as volume 20, supplement 1, page 257.

A. Urnikytė, A. Flores-Bello, Mayukh Mondal, A. Molytė, David Comas, Francesc Calafell, Elena Bosch, and V. Kučinskas. "Patterns of genetic structure and adaptive positive selection in the Lithuanian population from high-density SNP data." Scientific Reports 9 (2019): article number 9163.
      This autosomal DNA study found that the Lithuanians had "Partial genetic isolation" and assert they experienced that largely during most of the Middle Ages. 425 Lithuanian individuals were recruited for this study, belonging to members of all 6 Lithuanian dialect groups. Excerpt:

"Moreover, among the top signatures of positive selection detected in Lithuanians we identified several candidate genes related to diet (PNLIP, PPARD), pigmentation (SLC24A5, TYRP1, PPARD) and the immune response (BRD2, HLA-DOA, IL26 and IL22)."

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