Genetic heritage of Croatians in the Southeastern European gene pool-Y chromosome analysis of the Croatian continental and Island population.
The research objective of this study is to enlarge and deepen the Y chromosome research on the Croatian population and enable additional insights into the population diversity and historic events that shaped the current genetic landscape of Croatia and Southeastern Europe (SEE).



A high-resolution phylogenetic and phylogeographic analysis of 66 biallelic (SNPs) and 17 microsatellite (STRs) markers of the Y chromosome was performed using 720 Croatian samples. The obtained results were placed in a wider European context by comparison with ∼4450 samples from a number of other European populations.



A high diversity of haplogroups was observed in the overall Croatian sample, and all typical European Y chromosome haplogroups with corresponding clinal patterns were observed. Three distinct genetic signals were identifiable in the Croatian paternal gene pool - I2a1b-M423, R1a1a1b1a*-M558, and E1b1b1a1b1a-V13 haplogroups.



The analyses of the dominant and autochthonous I2a1b-M423 lineage (>30%) suggest that SEE had a significant role in the Upper Paleolithic, the R1a1a1b1a*-M558 lineage (19%) represents a signal from present day Slavic populations of Central Europe in the Croatian population, and the phylogeography of the E1b1b1a1b1a-V13 clade (around 9%) implies cultural diffusion of agriculture into Europe via the Balkan Peninsula. Am. J. Hum. Biol., 2016. © 2016 Wiley Periodicals, Inc. Am. J. Hum. Biol. 28:837-845, 2016. © 2016Wiley Periodicals, Inc.
Institute for Anthropological Research, 10000, Zagreb, Croatia.
Jelena
J
Šarac
Institute for Anthropological Research, 10000, Zagreb, Croatia.
Tena
T
Šarić
Institute for Anthropological Research, 10000, Zagreb, Croatia.
Dubravka
D
Havaš Auguštin
Institute for Anthropological Research, 10000, Zagreb, Croatia.
Natalija
N
Novokmet
Institute for Historical Sciences, Croatian Academy of Sciences and Arts, 20000, Dubrovnik, Croatia.
Nenad
N
Vekarić
Occupational Health Clinic, 23000, Zadar, Croatia.
Mate
M
Mustać
Department of Pathology and Pathological Anatomy, School of Medicine, University of Rijeka, 51000, Rijeka, Croatia.
Blaženka
B
Grahovac
Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, 51000, Rijeka, Croatia.
Miljenko
M
Kapović
Dubrava University Hospital, 10000, Zagreb, Croatia.
Branimir
B
Nevajda
Dubrava University Hospital, 10000, Zagreb, Croatia.
Anton
A
Glasnović
Institute for Anthropological Research, 10000, Zagreb, Croatia.|"Josip Juraj Strossmayer" University of Osijek, School of Medicine, Osijek, Croatia.
Saša
S
Missoni
Estonian Biocentre and Institute for Molecular and Cell Biology, Department of Evolutionary Biology, , University of Tartu, 51010, Tartu, Estonia.
Siiri
S
Rootsi
Institute for Anthropological Research, 10000, Zagreb, Croatia.|Anthropological Center of the Croatian Academy of Sciences and Arts, 10000, Zagreb, Croatia.
Pavao
P
Rudan
D041322:Chromosomes, Human, Y / Q000235:genetics*; D017523:Croatia; D005788:Gene Pool; D014644:Genetic Variation; D006801:Humans; D062312:Islands; D008297:Male; D010802:Phylogeny