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. 2022 Jun 22;63(3):273-286.
doi: 10.3325/cmj.2022.63.273.

Croatian genetic heritage: an updated Y-chromosome story

Dragan Primorac, Vedrana Škaro  1 , Petar Projić, Saša Missoni, Ivana Horjan Zanki, Siniša Merkaš, Jelena Šarac, Natalija Novokmet, Andrea Ledić, Adela Makar, Gordan Lauc, Šimun Anđelinović, Željana Bašić, Ivana Kružić, Marijana Neuberg, Martina Smolić, Robert Smolić, Irena Hrstić, Dragan Trivanović, Rijad Konjhodžić, Lana Salihefendić, Naida Babić Jordamović, Damir Marjanović
Affiliations

Croatian genetic heritage: an updated Y-chromosome story

Dragan Primorac et al. Croat Med J. .

Abstract

Aim: To analyze an additional set of ˝Y-chromosome genetic markers to acquire a more detailed insight into the diversity of the Croatian population.

Methods: A total of 518 Yfiler Plus profiles were genotyped. Allele frequencies, haplotype frequencies, and haplotype diversity were calculated by using the STRAF software v. 2.0.4. Genetic distances were quantified by Rst with AMOVA online tool from the YHRD. The evolutionary history was inferred with the neighbor-joining method of phylogenetic tree construction in the MEGAX software. Whit Athey's Haplogroup Predictor v. 5 was used for additional comparison with regional and other European populations.

Results: A total of 507 haplotypes were used for genetic STR analysis. An interpopulation study on 17 Y-STR markers showed the lowest genetic diversity between the Croatian and Bosnian-Herzegovinian populations and the highest between the Croatian and Irish populations. Additional interpopulation comparison with the original 27 Y-STR markers (for the population with available data) was also performed. A total of 518 haplotypes were used in the determination of haplogroup diversity. Haplogroup I with its sublineage I2a expressed the highest prevalence. The second most prevalent haplogroup was R, with its major sublineage R1a, except for the subpopulation of Hvar, where E1b1b was the second most prevalent haplogroup. Rare haplogroups also confirmed in this study were L, T, and Q. G1 was detected for the first time in the Croatian population.

Conclusion: We obtained a new insight into the differences between examined subpopulations of Croatia and their possible (dis)similarities with neighboring and distant populations.

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Figures

Figure 1
Figure 1
The neighbor-joining phylogenetic tree shows the genetic relationships and clustering between five Croatian regions based on the population study of 27 Y-STR markers (Yfiler Plus PCR Amplification Kit, Applied Biosystems).
Figure 2
Figure 2
MDS plot showing genetic differentiation between the 21 populations in two dimensions, based on the analysis of available data for 17 Y-STR markers included in the Yfiler marker set (Applied Biosystems).
Figure 3
Figure 3
MDS plot showing genetic differentiation between 24 analyzed populations in two dimensions, based on the analysis of available data for 27 Y-STR markers included in the Yfiler Plus PCR Amplification Kit (Applied Biosystems). Data for some neighboring populations (ie, Bosnia and Herzegovina and Montenegro) and a few others that showed clustering when analyzed on 17 Y-STR markers (eg, Bulgaria, Albania, Ukraine etc) were not available and therefore not shown.
Figure 4
Figure 4
Y-chromosome haplogroup prediction in the Croatian population (n = 518) based on the population study of 27 Y-STR markers (Yfiler Plus PCR Amplification Kit, Applied Biosystems). The study included five Croatian regional subpopulations with the local centers in Osijek, Pula, Varaždin, Split, and Hvar Island.
Figure 5
Figure 5
Y-chromosome haplogroup frequency in five Croatian subpopulations: a. Hvar (n = 104), b. Split (n = 105), c. Osijek (n = 110), d. Varaždin (n = 100), e. Pula (n = 99). Y-haplogroup frequencies are determined in the population study of 27 Y-STR markers (Yfiler Plus PCR Amplification Kit, Applied Biosystems).
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