Polish Genetics: Abstracts and Summaries

by Kevin Alan Brook

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Poles speak a form of West Slavic, a linguistic family that also includes Czech, Slovak, and Sorbian. The borders of the nation of Poland have changed significantly over the centuries. Before World War II, Poland extended further to the east, while Germany used to occupy the western reaches of modern Poland.

Between 56.5 and 60 percent of modern Polish men possess the Y-DNA haplogroup R1a, which encompasses R1a1. This indicates descent from a branch of Indo-Europeans who settled in Ukraine and created the "kurgan" culture. Other ethnic groups with high proportions of the Indo-European R1a1 type include Ukrainians, Russians, Slovenes, and some groups that live on the Indian sub-continent, but Poles have the highest percentage of R1a among all Europeans. For comparison, in Serbia, Croatia, and Bosnia the percentages range from 40 to 50 percent, in Russia 46 percent, in Latvia 40 percent, in neighboring Lithuania 38 percent, and in the Czech Republic 32 percent.

In all of Europe, the haplogroup R1a1a7 (M458) is found in the highest frequencies in central and southern Poland. Cluster P of this haplogroup is found among about 8 percent of Polish men, making it the single most prevalent Y haplogroup among Poles.

The other approximately 30 percent of Poles have mostly the R1b and I1 haplogroups. R1b is very common among other European populations including Western Europeans like Welsh, Scots, French, Spaniards, northern Italians, etc. I1 is also found in Germany where its frequencies range from 38 to 45 percent, compared to 18 to 25 percent in Poland.

The Balto-Slavic mtDNA haplogroup W6a is found in small proportions among Poles.

Although Poles mostly descend from West Slavic ancestors, centuries ago Scottish, Armenian, German, Frisian, and Ashkenazic Jewish settlers in Poland occasionally assimilated and intermarried with Poles and have left genetic traces in some modern ethnic Polish families, though most Armenians, Vistula Germans, and Jews only married their own kind as did Lipka Tatars and Roma.

According to The ALlele FREquency Database, 16% of Poles carry at least one T allele in the R160W (rs1805008, Arg160Trp) gene where TT usually causes red hair, and 11% of Poles carry at least one T allele in the R151C (rs1805007) gene where TT usually causes red hair.

According to The ALlele FREquency Database, 1.3% of Poles carry at least one 1540C allele in the EDAR (rs3827760) gene where CC causes straighter and thicker hair and shovel-shaped incisors. C is of East Asian origin.

Major studies of Poles

Boris Abramovich Malyarchuk, Tomasz Grzybowski, Miroslava V. Derenko, J. Czarny, Marcin Woźniak, and Danuta Miścicka-Śliwka. "Mitochondrial DNA variability in Poles and Russians." Annals of Human Genetics 66:4 (2002), pp. 261-283. (mirror) Abstract (Summary):

"Mitochondrial DNA (mtDNA) sequence variation was examined in Poles (from the Pomerania-Kujawy region; n=436) and Russians (from three different regions of the European part of Russia; n=201), for which the two hypervariable segments (HVS I and HVS II) and haplogroup-specific coding region sites were analyzed. The use of mtDNA coding region RFLP analysis made it possible to distinguish parallel mutations that occurred at particular sites in the HVS I and II regions during mtDNA evolution. In total, parallel mutations were identified at 73 nucleotide sites in HVS I (17.8%) and 31 sites in HVS II (7.73%). The classification of mitochondrial haplotypes revealed the presence of all major European haplogroups, which were characterized by similar patterns of distribution in Poles and Russians. An analysis of the distribution of the control region haplotypes did not reveal any specific combinations of unique mtDNA haplotypes and their subclusters that clearly distinguish both Poles and Russians from the neighbouring European populations. The only exception is a novel subcluster U4a within subhaplogroup U4, defined by a diagnostic mutation at nucleotide position 310 in HVS II. This subcluster was found in common predominantly between Poles and Russians (at a frequency of 2.3% and 2.0%, respectively) and may therefore have a central-eastern European origin."
Excerpts from Conclusion:
"Despite the high level of mtDNA variation in Poles and Russians, both populations exhibit a similar pattern of mtDNA haplogroup distribution, which is also typical for many European populations studied. Moreover, the analysis of distribution of CR haplotypes and subclusters shared between Poles and Russians has shown that both Slavonic populations share them mainly with Germans and Finns. These data allow us to suggest that Europeans, despite their linguistic differences, originated in the common genetic substratum which predates the formation of the most modern European populations. It seems that considerable genetic similarity between European populations, which has been revealed by mtDNA variation studies, was further accelerated by a process of gene redistribution between populations due to the multiple migrations occurring in Europe during the past millenia..."

Tomasz Grzybowski, Boris Abramovich Malyarchuk, Miroslava V. Derenko, Maria A. Perkova, J. Bednarek, and Marcin Woźniak. "Complex interactions of the Eastern and Western Slavic populations with other European groups as revealed by mitochondrial DNA analysis." Forensic Science International: Genetics 1(2) (June 2007): pp. 141-147. Abstract:

"Mitochondrial DNA sequence variation was examined by the control region sequencing (HVS I and HVS II) and RFLP analysis of haplogroup-diagnostic coding region sites in 570 individuals from four regional populations of Poles and two Russian groups from northwestern part of the country. Additionally, sequences of complete mitochondrial genomes representing K1a1b1a subclade in Polish and Polish Roma populations have been determined. Haplogroup frequency patterns revealed in Poles and Russians are similar to those characteristic of other Europeans. However, there are several features of Slavic mtDNA pools seen on the level of regional populations which are helpful in the understanding of complex interactions of the Eastern and Western Slavic populations with other European groups. One of the most important is the presence of subhaplogroups U5b1b1, D5, Z1 and U8a with simultaneous scarcity of haplogroup K in populations of northwestern Russia suggesting the participation of Finno-Ugrian tribes in the formation of mtDNA pools of Russians from this region. The results of genetic structure analyses suggest that Russians from Velikii Novgorod area (northwestern Russia) and Poles from Suwalszczyzna (northeastern Poland) differ from all remaining Polish and Russian samples. Simultaneously, northwestern Russians and northeastern Poles bear some similarities to Baltic (Latvians) and Finno-Ugrian groups (Estonians) of northeastern Europe, especially on the level of U5 haplogroup frequencies. The occurrence of K1a1b1a subcluster in Poles and Polish Roma is one of the first direct proofs of the presence of Ashkenazi-specific mtDNA lineages in non-Jewish European populations."

Peter Gwozdz. "Y-STR Mountains in Haplospace, Part II: Application to Common Polish Clades." Journal of Genetic Genealogy 5:2 (2009).

Vincenza Battaglia, Simona Fornarino, Nadia Al-Zahery, Anna Olivieri, Maria Pala, Natalie M. Myres, Roy J. King, Siiri Rootsi, Damir Marjanović, Dragan Primorac, Rifat Hadžiselimović, Stojko Vidović, Katia Drobnič, Naser Durmishi, Antonio Torroni, Augusta Silvana Santachiara-Benerecetti, Peter A. Underhill, and Ornella Semino. "Y-chromosomal evidence of the cultural diffusion of agriculture in southeast Europe." European Journal of Human Genetics 17:6 (June 2009): pages 820-830. First published online on December 24, 2008. (mirror)
        99 Polish males participated in this study. Their Y-DNA haplogroups were found in these frequencies:
E1b1b1a2 among 4%
I1* among 4%
J1* among 1%
J2b2 among 1%
N1 among 1%
R1a1* among 56.6%
R1b1b2 among 16.2%

Łukasz Grochowalski, Justyna Jarczak, Maria Urbanowicz, Marcin Słomka, Maria Szargut, Paulina Borówka, Marta Sobalska-Kwapis, Błażej Marciniak, Andrzej Ossowski, Wiesław Lorkiewicz, and Dominik Strapagiel. "Y-Chromosome Genetic Analysis of Modern Polish Population." Frontiers in Genetics 11 (October 23, 2020): article number 567309.
      The authors collected Y-chromosomal samples from 2,705 males from throughout Poland and explored regional differences in the results. Excerpts from the Results section:

"The most frequent Y-SNP binary haplogroups in all analyzed samples were found to be R (71.02%), I (15.71%), N (4.29%), E (3.84%), J (3.22%), and G (1.22%). The total contribution of the others, viz. Q, C, T, H, and O, totaled less than 1% (0.70%), and each comprised only individual samples (Table 1). [...] In all voivodeships, hg R was the most common, with the highest frequency observed in the Lodz voivodeship (86.72%) and lowest in Lower Silesia (62.34%) (Table 1)."

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.
        Of 40 Polish males included on "Table 1: Frequencies (%) of the Y-chromosome E-M78 sub-haplogroups in the 81 populations analyzed", 2.5% (just one of them) belongs to E-M78 and 2.5% to E-V13.

Krzysztof Rębała, Begoña Martínez-Cruz, Anke Tönjes, Peter Kovacs, Michael Stumvoll, Iris Lindner, Andreas Büttner, H-Erich Wichmann, Daniela Siváková, Miroslav Soták, Lluís Quintana-Murci, Zofia Szczerkowska, David Comas, and the Genographic Consortium. "Contemporary paternal genetic landscape of Polish and German populations: from early medieval Slavic expansion to post-World War II resettlements." European Journal of Human Genetics 21 (2013): pages 415-422. First published online on September 12, 2012.
        A total of 1156 males participated in this study. Modern-era Poles as well as native Slavs of Germany (presumably Sorbs and/or Polabians) and east Germans were genetically tested on their paternal (Y-DNA) lines. Among other things: The degree of homogeneity/heterogeneity of Poles in relation to demographic patterns before and after World War II was studied. Particular attention was paid to Polish R-M17 subclades.

Justyna Jarczak, Łukasz Grochowalski, Błażej Marciniak, Jakub Lach, Marcin Słomka, Marta Sobalska-Kwapis, Wieslaw Lorkiewicz, Łukasz Pułaski, and Dominik Strapagiel. "Mitochondrial DNA variability of the Polish population." European Journal of Human Genetics (March 21, 2019).
        5,852 Polish people contributed their mtDNA to this comprehensive study of mtDNA haplogroups' "variability of Polish population and to visualize the genetic relations between Poles." Most (82.38%) Poles belong to the West Eurasian mtDNA haplogroups H (especially H1), J (especially J1), T, and U (especially U5). 43.42% of them carry varieties of H, Europe's most common haplogroup, and among Poles H peaks at 47.27% in the Kuyavian-Pomeranian region of Poland. By contrast, and as expected, many fewer Poles carry Asian and African haplogroups, but some do carry the Asian (East Asian, South Asian, Central Asian, and Siberian) haplogroups A, B, C, D, G, R, and Z, the mixed African-Asian haplogroups M and N (wrongly described in this study as merely "African"), and the African haplogroup L.
        Table S3 presents the following percentages for West Eurasian subhaplogroups among the total Polish population:
H: 10.84% (for undifferentiated varieties)
H1: 15.42% (their single most common haplogroup)
H10: 0.04%
H11: 0.52%
H13: 1.69%
H14: 0.09%
H15: 0.25%
H18: 0.04%
H2: 2.98%
H20: 0.04%
H22: 0.04%
H26: 0.16%
H3: 2.95%
H35: 0.25%
H4: 1.46%
H41: 0.23%
H44: 0.27%
H46: 0.13%
H49: 0.45%
H5: 4.96%
H6: 2.08%
H60: 0.02%
H65: 0.02%
H7: 0.61%
H81: 0.05%
H84: 0.02%
H94: 0.07%
HV: 1.69%
HV0: 2.64%
HV1: 0.31%
HV2: 0.04%
HV5: 0.02%
I: 0.38%
I1: 0.93%
I2: 0.27%
I3: 0.25%
I5: 0.02%
J1: 8.34%
J2: 1.94%
K: 1.04%
K1: 2.59%
K2: 0.65%
T: 4.69%
T1: 2.48%
T2: 2.43%
U: 0.07%
U1: 0.47%
U2: 2.97%
U3: 0.36%
U4: 3.83%
U5: 12.35% (their second most common haplogroup)
U6: 0.07%
U7: 0.22%
U8: 0.77%
W: 0.72%
W1: 0.16%
W3: 0.75%
W5: 0.09%
W6: 0.81%
        Haplogroups of Asian origin were found in the following frequencies among Poles, according to figures presented Table 1: only 0.26% carry A, 0.07% carry B, 0.5% carry C, 0.46% carry D, 0.21% carry G, 0.38% carry R, and 0.09% carry Z.
        Meanwhile, 0.39% carry X, 0.14% carry L, and 0.02% carry F, and N is found among more Poles (1.06%) than M (0.15%). 4.07% of Poles carry varieties of K, which is both European and Middle Eastern. Per other research, K among Poles includes K1a1b1a, inherited from at least one Ashkenazic Jewish woman who had converted to Christianity.
        The African mtDNA haplogroups L0a1a, L1b1, L2a1, L2e, and L3e were found in certain specific regions of Poland in small frequencies. The specific variety of Polish L2a1, L2a1l, was shown in an earlier DNA study to be an inheritance from another one or more Ashkenazic Jewish woman who converted to Christianity.

Agnieszka Piotrowska-Nowak, Krzysztof Safranow, Jakub G. Adamczyk, Ireneusz Sołtyszewski, Paweł Cięszczyk, Katarzyna Tońska, Cezary Żekanowski, and Beata Borzemska. "Mitochondrial Genome Variation in Polish Elite Athletes." International Journal of Molecular Sciences 24:16 (August 20, 2023): article no. 12992.
        They examined the mtDNA sequences of 52 male power sport athletes and 47 male endurance sport athletes from the Polish population and compared them with 100 control subjects. Haplogroups provided in their supplementary data set at GenBank include I3d2, U2e1a1, V1a1, V18a, J1c5, H11a1, V7a, C4a1a1, K1a1b1e, H45, H7c1, H1e8a, and many more.

M. Mielnik-Sikorska, P. Daca, Marcin Woźniak, Boris Abramovich Malyarchuk, Miroslava V. Derenko, K. Skonieczna, and Tomasz Grzybowski. "The history of Slavs in the light of Y chromosome and mtDNA variability." A paper presented at the DNA in Forensics 2012 conference in Innsbruck, Austria between September 6-8, 2012.
        Includes mtDNA samples from Poles. A genetic continuity is seen between the ancient Corded Ware culture people (who inhabited central and eastern Europe, including the land that's now Poland) and modern Poles and other Slavs.

Anna Juras, Miroslawa Dabert, Alena Kushniarevich, Helena Malmström, Maanasa Raghavan, Jakub Z. Kosicki, Ene Metspalu, Eske Willerslev, and Janusz Piontek. "Ancient DNA Reveals Matrilineal Continuity in Present-Day Poland over the Last Two Millennia." PLOS One (October 22, 2014).
        The authors compared the mtDNA of ancient samples from northern and northwestern Poland with modern populations from Central Europe, Southeastern Europe, Eastern Europe, and Northern Europe, among them Poles. Excerpt:

"[...] In particular, presence of sub-clades of hg H5a1 among both RoIA and ME ancient samples and present-day Poles, and the identification of N1a1a2 haplotype in RoIA and contemporary Poles is consistent with the idea of continuity of maternal lineages from at least Roman Iron Age in the region. Our data demonstrates that present-day Western Slavs, among analyzed Europeans, exhibit a mtDNA profile that is more similar to one found among ancient inhabitants of Central Europe. [...]"

Miroslava V. Derenko, Boris Abramovich Malyarchuk, Galina A. Denisova, Maria A. Perkova, Urszula Rogalla, Tomasz Grzybowski, Elza K. Khusnutdinova, Irina Dambueva, and Ilia Zakharov. "Complete Mitochondrial DNA Analysis of Eastern Eurasian Haplogroups Rarely Found in Populations of Northern Asia and Eastern Europe." PLoS ONE 7(2) (February 21, 2012): e32179. Excerpts:

"[...] The results of our study provided an additional support for the existence of limited maternal gene flow between eastern Asia/southern Siberia and eastern Europe revealed by analysis of modern and ancient mtDNAs previously [...] It is noteworthy that another eastern Asian specific lineage, C5c1, revealed exclusively in some European populations (Poles, Belorussians, Romanians), shows evolutionary ages within frames of 6.6-11.8 kya [thousand years ago] depending on the mutation rates values [12]. [...] Prehistoric migrations associated with the distribution of the pottery-making tradition initially emerged in the forest-steppe belt of northern Eurasia starting at about 16 kya and spread to the west to reach the south-eastern confines of eastern European Plain by about 8 kya [60] could be suggested as a potential cause for eastern Asian mtDNA haplogroups appearance in Europe. [...]"

Miroslava V. Derenko, Boris Abramovich Malyarchuk, Tomasz Grzybowski, Galina A. Denisova, Urszula Rogalla, Maria Perkova, Irina Dambueva, and Ilia Zakharov. "Origin and Post-Glacial Dispersal of Mitochondrial DNA Haplogroups C and D in Northern Asia." PLoS ONE 5:12 (December 21, 2010): e15214. The "Results and Discussion" section indicates that "three Poles from northern Poland" belong to mtDNA haplogroup C5c, which they also found in "one Teleut and one Tubalar from the Altai region of southern Siberia".

Garrett Hellenthal, George B. J. Busby, Gavin Band, James F. Wilson, Cristian Capelli, Daniel Falush, and Simon Myers. "A Genetic Atlas of Human Admixture History." Science 343:6172 (February 14, 2014): pages 747-751. Companion website.
        The researchers devised a statistical tool called GLOBETROTTER that allowed them to study admixture in multiple populations around the world. About 2 percent of Northeast Asian ancestry was detected in Poles and is believed to stem from Asian steppe peoples who invaded eastern Europe. Poles have less of this Asian ancestry than Hungarians, Russians, and Belarusians do.

Anna Siewierska-Górska, Aneta Sitek, Elżbieta Żądzińska, Grzegorz Bartosz, and Dominik Strapagiel. "Association of five SNPs with human hair colour in the Polish population." Homo: Internationale Zeitschrift für die vergleichende Biologie der Menschen 68:2 (March 2017): pages 134-144. First published electronically on February 4, 2017.
        186 Polish people had their autosomal DNA genotyped for 22 genes related to different hair colors. 45 of the participants had red hair, 64 had blond hair, and 77 had dark hair. (According to Table 2, dark blond is the most common hair colour among Poles as a whole at 42%, followed by dark black at 22.6%, dark chestnut at 14.8%, blond at 10.8%, medium blond at 5.1%, light blond at 3.8%, red at 0.7%, and reddish blond at 0.2%.) It was confirmed that particular associations are strong with rs12913832 in HERC2 and the red hair genes rs1805007 and rs1805008 in MC1R. Other genes studied included rs1800401 in OCA and rs16891982 in SLC45A.

Elżbieta Kaja, Adrian Lejman, et al. "The Thousand Polish Genomes—A Database of Polish Variant Allele Frequencies." International Journal of Molecular Sciences 23:9 (April 20, 2022): article number 4532.
      1,222 ethnic Polish individuals had their whole genomes sampled here. The scientists looked at their genetic variations and mutations including those for pathogenic alleles (including C2, TGM5, NUP93, C19orf12, and PROP1), their mitochondrial haplogroups, and their levels of homozygosity. Their DNA was found to be very homogeneous and very European.

Polish Genetics and Anthropology Blog by David Wesolowski

See also our Ukrainians page for studies by Rebala, et al. (2007) and Malyarchuk, et al. (2008) that include Polish samples.

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