Y chromosome DNA
Ancient Y-DNA and atDNA
In the 2014 study, of the three successfully generated SNP profiles of Neolithic Starčevo culture samples from Vinkovci, two belonged to Y-DNA haplogroup G2a-P15 and one to I2a1-P37.2, which could indicate G2a as potential representatives of the spread of farming from the Near East to Europe, while I2a as Mesolithic substratum in Europe. [1] In the 2018 study, 10 out of 17 samples from Croatia had a successful Y-DNA sequencing; two Croatia Cardial Neolithic (6005–5786 BCE) samples from Zemunica Cave belonged to C1a2 and E1b1b1a1b1, Early-Neolithic Starčevo culture (5837–5659 BCE) from Beli Manastir-Popova zemlja to C, Early-Neolithic Croatia Impressa culture (5641–5560 BCE) from Kargadur to G2a2a1, two Middle-Neolithic Sopot culture (5207–4546 BCE) samples from Osijek to G2a2a1 and J2a1, Late-Neolithic Sopot (4790–4558 BCE) from Beli Manastir-Popova zemlja to I, two Vučedol culture (2884–2582 BCE) samples from Beli Manastir-Popova zemlja and Vučedol Tell to R1b1a1a2a2 and G2a2a1a2a, and the Early-Middle Bronze Age (1631–1521 BCE) sample from Veliki Vanik belonged to J2b2a. [2]
In 2019 were autosomally analyzed three 5th century individuals with artificial cranial deformation from Osijek, probably of Hunnic or Germanic origin. According to Principal component analysis and Admixture methods, one of them had East/Northeast Asian, another European/Caucasian and third Near Middle Eastern/North African ancestry. [3]
In the 2021, was made a genome-wide analysis on 38 out of 41 individuals from the 6200 years old massacre at village Potočani in Eastern Croatia. [4] [5] They belonged to the Middle Copper Age Lasinja culture, and autosomally 70% of them were not in close kinship implying "a community composed of many family groups". According to Admixture and PCA it revealed "that the analyzed individuals are slightly shifted from the Anatolia Neolithic cluster in the direction of Western European hunter-gatherers, similar to other Middle to Late Neolithic European farmers before the arrival of [Western] steppe ancestry", as on average had approximately 91% Anatolian Neolithic Farmers (ANF) and 9% Western Hunter-Gatherer (WHG)-related ancestry, being very distant from modern Croats. Among them were present "paternal lineages typical of Balkan Neolithic populations (eleven G2a2, two I2a1a(xI2a1a2), one I2a2, C and C1a2-V20)". [6]
In the same year were analyzed additional 19 Middle Neolithic of Sopot culture, 1 Copper Age and 1 Roman age sample from Beli Manastir-Popova zemlja as well as 7 Bronze Age samples of Transdanubian Encrusted Pottery culture from Jagodnjak-Krčevine in Eastern Croatia. According to Admixture, Croatian Neolithic samples have 97.6-100% ANF-ancestry, Copper Age samples have 71% ANF-ancestry and 29% Western Steppe Herders (WSH)-ancestry, while Bronze Age samples 47% ANF, 20% WHG and 33% WSG-ancestry. The observed Y-DNA haplogroups in Neolithic/Copper period were two G2a2a-PF3147, one G2a2b2a1a1-PF3345, one C1a2b-Z38888, two I2a2a-M223 and one J-M304; in Bronze period were only four G2a2a1a2a2a1-Z31430 and one G2a2a1-PF3148. The one Roman period individual from 260 to 402 CE, "who may or may not be representative for the wider population in that time period", had autosomal genetic combination very similar to present-day Southeastern Europeans (including Croats), "adding an important data point to the substantial shift in ancestry that occurred in the region between the Bronze Age and today". He carried Scythian-Eurasian Y-DNA haplogroup R1a1a1b2a2-Z2124 > R1a1a1b2a2b1-F1345 (R-F1019* subclade [7] ). [8] Between 2018 and 2022 studies analyzed many samples related to the Cetina culture, Proto-Illyrians and specific Illyrian tribes (Iapydes and Liburni), finding that their paternal lineage almost exclusively belonged to the J2b-L283 haplogroup. [2] [9] [10]
A 2022 archaeogenetic study published in Science compared ancient, medieval, and modern Balkans population samples and found that the medieval Slavic migrations "profoundly affected the region", resulting in the reduction of Anatolian Neolithic ancestry in Southeastern Europe. Pre-Slavic Balkan populations have the most of the Anatolian Neolithic component of ancestry, whereas present-day Slavs outside the Balkans have the least, "with present-day people from Southeastern Europe", including Croats, "intermediate between the two extremes", with Greeks and Albanians having the most while Croats and Hungarians the least. [11] A 2023 archaeogenetic study published in Cell confirmed that the spread of Slavic language and identity was because of large movements of people of both males and females with specific Eastern European ancestry and that "more than half of the ancestry of most peoples in the Balkans today comes from the Slavic migrations, with around a third Slavic ancestry even in countries like Greece where no Slavic languages are spoken today". [12] [13] The pre-Slavic period population of Croatia and the region had Y-DNA haplogroups E-V13, R1b, J2b, J2a, G2a while with Slavic migration arrived R1a-Z282 and I2a-L621 among others. [13]
Contemporary Y-DNA
Genetically, on the paternal Y chromosome line and studies published between 2003 and 2008, a majority (>75%) of male Croats from Croatia belongs to one of the three major European Y-DNA haplogroups – I2 (32% [14] [15] [16] -34% [17] ), R1a (27% [17] -34% [14] [15] [16] ) and R1b (12% [17] -15% [14] [15] [16] ), while a minority (>25%) belongs to haplogroups E (9% [17] ), I1 (5% [15] -9% [17] ), J (4% [17] ), N (2% [17] ), and G (1% [17] ). According to recent and more extensive studies published between 2012 and 2022, a majority (65%) of male Croats from Croatia belongs to haplogroups I2 (39%-40%) and R1a (22%-24%), while a minority (35%) belongs to haplogroups E (10%), R1b (6%-7%), J (6%-7%), I1 (5-8%), G (2%), Q (0-1.93%), H (0-1.8%), T (0.6%), N (0-0.6%) and L (0.2%). [18] [19]
Haplogroup I among Croats from Croatia is around 43.5%, [18] while in Šokci, a subgroup of Croats from eastern Croatia, is between 44% and 50% of the same haplogroup. [20] [21] It is divided in two major subdivisions – subclade I2 (37.7%), typical for the populations of the Balkans and Eastern Europe, and I1 (5.8%), typical for the populations of Scandinavia. [17] From the I2 subclade, the most prevailing is I2a1a (I-P37.2) i.e. its subclade lineage I-M423 (18,400-14,000 YBP) > I-Y3104 (14,000-11,400 YBP) > I2a1a2b-L621 (11,400-6,500 YBP) > I-CTS10936 (6,500-5,600 YBP) > I-S19848 (5,600 YBP) > I-CTS4002 (5,600-5,100 YBP) > I-CTS10228 (5,100-3,400 YBP) > I-Y3120 (3,400-2,100 YBP) > I-S17250 (2,100-1,850 YBP) > I-PH908 (1,850-1,700 YBP), [22] which is typical of the South Slavic populations of Southeastern Europe, being highest in Bosnia-Herzegovina (>50%). [16] In Croatia the highest frequency is observed in Dalmatia, peaking in cities of Split (50.48%), Dubrovnik (53%) and Zadar (60%), [23] [19] as well southern Adriatic islands of Vis (44.6%), [23] Brač and Korčula (~55%), and Hvar (52.88-65%). [17] [19] It is around average in the cities of Pula (31.31%) and Osijek (27.6-40.91%), [17] [19] some southern Mljet (33.3%), Lastovo (33.3%) and middle Adriatic islands of Pašman (37.2%) and Pag (36.4%). [23] The frequency is lowest in the town of Varaždin (18%) in northwestern Croatia, [19] in the western mountainous Žumberak region (18.2%), [23] and in the middle-northern islands of Cres (3%), Dugi otok (11.4%), Ugljan (24.6%) and Krk (27%). [14] [23] The highest frequency is found in Croats of Bosnia and Herzegovina (63.8-73.3%). [16] [17] Based on 8 STR marker genetic distances closest are populations of near countries, but also depending on method, Ukraine, Belarus, Poland and Russia. [24] The subclade's I-P37.2 very high frequency in the Western Balkans diminishes in all directions. [25] [23] The population with haplogroup I migrated to Europe from the Middle East, approximately 25,000-13,000 years ago. It represents the Paleolithic and Mesolithic population of hunter gatherers in Europe. However, in comparison to older research which argued a prehistoric autochthonous origin of the contemporary haplogroup I2 in Croatia and the Balkans, [nb 1] Battaglia et al. (2009) already observed highest variance of the haplogroup in Ukraine, and Zupan et al. (2013) noted that it suggests it arrived with Slavic migration from the homeland which was in present-day Ukraine. [30] The recent research by O.M. Utevska (2017), concluded that the haplogroup STR haplotypes have the highest diversity in Ukraine, with ancestral STR marker result "DYS448=20" comprising "Dnieper-Carpathian" cluster, while younger derived result "DYS448=19" comprising the "Balkan cluster" which is predominant among the South Slavs. [31] This "Balkan cluster" also has the highest variance in Ukraine, which indicates that the very high frequency in the Western Balkan is because of a founder effect. [31] Utevska calculated that the STR cluster divergence and its secondary expansion from the middle reaches of the Dnieper river or from Eastern Carpathians towards the Balkan peninsula happened approximately 2,860 ± 730 years ago, relating it to the times before Slavs, but much after the decline of the Tripolye culture. [31] However, STR-based calculations give overestimated dates, [32] [33] and more specifically, the cluster is represented by a single SNP, I-PH908, known as I2a1a2b1a1a1c in ISOGG phylogenetic tree (2019), and according to YFull YTree it formed and had TMRCA approximately 1,850-1,700 YBP. [22] Although it is dominant among the modern Slavic peoples on the territory of the former Balkan provinces of the Roman Empire, until now it was not found among the samples from the Roman period and is almost absent in contemporary population of Italy. [34] According to Pamjav et al. (2019) and Fóthi et al. (2020), the distribution of ancestral subclades like of I-CTS10228 among contemporary carriers indicates a rapid expansion from Southeastern Poland, is mainly related to the Slavs and their medieval migration, and the "largest demographic explosion occurred in the Balkans". [34] [35] According to Olalde et al. (2023) it was confirmed that I2-L621 was absent before medieval period in the Balkans and arrived with the Slavs. [13]
R1a1a1-M17 (22.1%-25.6%) is the second most prevailing haplogroup. [18] The haplogroup R-M17 in Croatia is mostly divided into two subclades, R-M558 which is predominant (19.2%), and R-M458 (4.9%), while R-Z282 is rare (1.2%). [23] It has highest frequency in northern (29.1%) and central (23.6%) region, and almost the same frequency in eastern (18.6%), southern (19.1%), and western (20%) region of Croatia. [18] The highest local frequency of R1a1a1-M17 was observed in the Croats from Varaždin (38%) and Osijek (26-39%), [17] [19] Žumberak (34.1), [23] and in the middle-northern islands of Dugi Otok (34.1%), Krk (37%), Pašman (38%) and Cres (56.6%), [14] [23] being similar to the values of the other Slavs, like Slovenes, Czechs and Slovaks. The frequency is lower in Šokci from eastern Croatia (16%), [20] [21] in the city of Dubrovnik (13.4%) and Split (19%) in Dalmatia, as well on the southern islands of Hvar (8-10.58%) and Vis (17%). [14] [23] [19] In Bosnian Croats, the frequency is similar to those of other South Slavs (12%). [17] [36] Considering subclades, the only outlier is island of Cres which had almost equal percentage of R1a-M558 (29.3%) and R1a-M458 (27.3%). [23] Based on 8 STR marker genetic distances closest are populations of near countries, but also depending on method, Belarus, Slovakia, Poland and Russia. [24] The R-M558 subclade is more frequent among East Slavs in Eastern Europe and Volga-Ural region, while R-M458 among West Slavs in Central and Eastern Europe. Both are present in "informative frequencies in Balkan populations with known Slavonic heritage". [37] R-M558 subclade CTS1211 was also found among Hungarian conquerors which indicates mixing and assimilation of the Slavs among the Hungarians. [38]
The highest frequency of the haplogroup Haplogroup R1b (7.9%-9.1%), which in Croatia is divided into several subclades (mainly R-L23 and its subclade R-U152), has in northern (10.9%) and central (11.8%) region of Croatia, [18] while locally in the Croats from the island of Krk (16.2%) and Dugi Otok (25%), [14] [23] and Žumberak (11.3%), [23] while in the southern islands, city of Dubrovnik (3.9%) and in Bosnian Croats it is almost absent (1-6%), [14] [17] [23] [19] or like in Osijek it was not found. [17] These two haplogroups (R1a and R1b) are connected to Proto-Indo-Europeans migration from the Eurasian area some 5,000 years ago, [25] with R1a particularly to Slavic population's migration. [16] [23] Their frequency show north–south gradiation and an opposite frequency distribution to the haplogroup I-P37.2, [25] and the highest frequency is observed in the northern, central and eastern Croatia. [14] [17] [18]
From the haplogroup E (9.8%-10.6%) among Croats the most frequent is subclade E1b1b1a1b-V13 (6.7%), while E1b1b1a3-M149 and E1b1b1c-M123 were also found in small numbers (1.1%). [17] E-V13 it's typical of the populations of south-eastern Europe, peaking among Kosovo Albanians (44%), and is also high among the Macedonians, Greeks, Romanians, Bulgarians and Serbs. [16] The highest frequency in Croatian mainland has been found in Varaždin (16%) and Žumberak (18.2%) [23] [19] in central islands Dugi Otok (15.9%) and Ugljan (13.2%), as well southern islands Vis (23.4%) and Mljet (15.4%). [23] In the northern islands of Cres (3%) [23] and Krk (6.8%) was similar to other southern islands (3.7-4.3%). [14] In Bosnian Croats the frequency was the same as among the Croats from Croatia (8.9%). [17] Subclades of J1 are rare in Croatia, while J2 are higher in Croats from Croatia, peaking in Croats from Osijek (10.2%) and central islands Ugljan (10.2%) and Pašman (16.6%) as well the northern island of Krk (10.8%) and Cres (14.1%), [14] [17] [23] than in Bosnian Croats (both 1.1%). [17] Subclade G2a-P15 both in Croatian and Bosnian Croats is found in low numbers (1.1%), [17] but peaks locally in the north-eastern town of Osijek (13.8%), [17] and the southern islands of Mljet (15.4%), Korčula (10.4%), Brač (6%) as well northern island Cres (7%). [14] [23] The haplogroup E and J are related to post-LGM, Neolithic migration of a population from Anatolia who brought with them domestication of wild animals and plants. Specifically, the haplogroup E's subclade probably arose locally in the Balkan not earlier than 8,000-10,000 years ago. These haplogroups show south–north gradiation. [25] The haplogroup G could have been present in Europe during the LGM or population with some of its subclades arrived with early farmers. [25]
Haplogroup's N subclades are rare in Croatia (0-2.2%). [17] [23] [19] It is very frequent in the Far East, like Siberia and China, while in Europe in Finns (60%) and in the Baltic countries (45%). Unusually for European populations, another central Asian-Siberian haplogroup Q was found in unusually high frequencies due to founder effect in the islands of Hvar (7.69-14%), Lastovo (8.3%) and Korčula (6%). [14] [23] [19] It was also found in an individual from Herzegovina. [16] In later studies, a Croatian from Bosnia and Herzegovina was confirmed to belong to the subclade Q-L472>Z2902>B285>B29 found in Central-East Asia, [39] while a Croatian from Croatia, another one from the island of Hvar, and a Croatian of Jewish origin in Poland belonged to the subclade Q-L245>Y2998>Y2209 which is mostly found in the Middle East and Ashkenazi Jews. [40]
Abstract and data
The region of modern-day Croatia was part of a wider Balkan region which may have served as one of several refugia during the LGM, a source region for the recolonization of Europe during the post-glacial period and Holocene (10,000 years ago). [17] [25] The eastern Adriatic coast was much further south. [15] The northern and the western parts of that sea were steppes and plains, while the modern Croatian islands (rich in Paleolithic archeological sites) were hills and mountains. [15] [17] The region had a specific role in the structuring of European, and particularly among Slavic, paternal genetic heritage, characterized by the predominance of R1a and I, and scarcity of E lineages. [16] The contemporary insular population's genetic diversity is characterized by strong isolation and endogamy. [41]
In the table below is cited the most extensive study (2012) until now on the population in Croatia. It is a national reference DNA database of 17 loci system which acquired Y-STR haplotypes were predicted in estimated (over 90% probability) Y-SNP haplogroups. [18] The sub-populations were divided in five regions which sub-populations showed strong similarity and homogeneity of paternal genetic contribution, all clustering together, with exception of sub-population from southern Croatia who showed a mild difference. In addition to high degree of overall homogeneity, there are gradient similarities to a central European cluster (Germanic, Slavic, Hungarian), and a southern European cluster (Bosnian, Serbian, Bulgarian, Macedonian, Romanian, Albanian, South Italian), going from north to south (and east to west). [18] Out of the neighboring countries and ethnic peoples are closest to them Bosnia and Herzegovina and Bosniaks. [42] [43] [44]
| Population | Samples | Source | I2a(xI2a1) | R1a | E1b1b1-M35 | R1b | I1 | J2b | G2a | H | J2a1h | J1 | J2a1b | E1b1a1-M2 | G1 | G2c | I2a1 | I2b1 | I2b(xI2b1) | J2a1-bh | L | N | Q | T |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Croatia | 1,100 | Mršić et al. (2012) | 37.7% (415/1100) | 22.1% (243/1100) | 10.6% (117/1100) | 7.9% (87/1100) | 5.8% (64/1100) | 3.7% (41/1100) | 2.7% (30/1100) | 1.8% (20/1100) | 1.2% (13/1100) | 1.1% (12/1100) | 1% (11/1100) | 0.1% | 0 | 0.1% | 0.1% | 0.9% | 0.3% | 0.3% | 0.2% | 0.6% | 0.7% | 0.6% |
| Central Croatia | 220 | Mršić et al. (2012) | 31.8% (70/220) | 23.6% (52/220) | 11.8% (26/220) | 10.4% (23/220) | 5% (11/220) | 5% (11/220) | 3.6% (8/220) | 1.3% (3/220) | 0.4% (1/220) | 2.2% (5/220) | 0.9% (2/220) | 0 | 0 | 0 | 0.4% | 0.9% | 0.9% | 0 | 0.4% | 0.9% | 0 | 0 |
| North Croatia | 220 | Mršić et al. (2012) | 25.4% (56/220) | 29.1% (64/220) | 10.9% (24/220) | 10.4% (23/220) | 4.1% (9/220) | 5% (11/220) | 3.1% (7/220) | 5% (11/220) | 0.4% (1/220) | 0 | 0.4% (1/220) | 0.4% | 0 | 0 | 0 | 2.2% | 0.9% | 0 | 0.4% | 0.4% | 0 | 1.3% |
| East Croatia | 220 | Mršić et al. (2012) | 40% (88/220) | 18.6% (41/220) | 11.3% (25/220) | 8.2% (18/220) | 5.9% (13/220) | 2.7% (6/220) | 1.8% (4/220) | 0.9% (2/220) | 2.2% (5/220) | 2.7% (6/220) | 1.3% (3/220) | 0 | 0 | 0 | 0 | 0.4% | 0 | 0.4% | 0 | 0.9% | 1.8% | 0.4% |
| West Croatia | 220 | Mršić et al. (2012) | 36.8% (81/220) | 20% (44/220) | 12.7% (28/220) | 5.9% (13/220) | 8.6% (19/220) | 3.2% (7/220) | 3.2% (7/220) | 1.8% (4/220) | 1.8% (4/220) | 0.4% (1/220) | 1.8% (4/220) | 0 | 0 | 0.4% | 0 | 0.4% | 0 | 0.4% | 0 | 0.9% | 0.4% | 0.9% |
| South Croatia | 220 | Mršić et al. (2012) | 54.5% (120/220) | 19.1% (42/220) | 6.3% (14/220) | 4.5% (10/220) | 5.4% (12/220) | 2.7% (6/220) | 1.8% (4/220) | 0.4% (1/220) | 0.9% (2/220) | 0 | 0.4% (1/220) | 0 | 0 | 0 | 0 | 0.4% | 0 | 0.9% | 0.4% | 0 | 1.3% | 0.4% |
| Zagreb & Croatia | 239 | Purps et al. (2014) [45] | 36.1% | 23.8% | 6.4% | 13.9% | 3.9% | 2.1% | n/a | n/a | 1.9% | 0.9% | n/a | n/a | 0 | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a |
| Croatia | 720 | Šarac et al. (2016) | 32.5% | 25.6% | 9.8% | 9.1% | 4.1% | 5.0% | 4.4% | 0.3% | 2.7% | 0.5% | 1.0% | 0.4% | 0 | 0 | 0.3% | 0.8% | 0.5% | 1.0% | 0 | 0.6% | 0.9% | 1.2% |
| Croatia | 518 | Primorac et al. (2022) | 39% | 24.32% | 10.81% | 6.37% | 7.14% | 2.12% | 1.93% | 0 | 3.47% (J2a) | 0.58% | n/a | 0 | 0.19% | n/a | 1.35% (I2b) | n/a | n/a | n/a | 0.19% | 0 | 1.93% | 0.58% |
| West Herzegovina (Croats) | 141 | Peričić et al. (2005) | 63.8% | 12% | 8.5% | 3.5% | 4.9% | 0.7% | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | 0.7% | n/a |
| Bosnia and Herzegovina (Croats) | 119 | Kovačević et al. (2014) [46] | 69.8% | 11.8% | 10.9% | 2.5% | 0 | 0.8% | 0.8% | n/a | 0.8% | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a | n/a |
