Standing at the Gateway to Europe - The Genetic Structure of Western Balkan Populations Based on Autosomal and Haploid Markers

Abstract

Contemporary inhabitants of the Balkan Peninsula belong to several ethnic groups of diverse cultural background. In this study, three ethnic groups from Bosnia and Herzegovina - Bosniacs, Bosnian Croats and Bosnian Serbs - as well as the populations of Serbians, Croatians, Macedonians from the former Yugoslav Republic of Macedonia, Montenegrins and Kosovars have been characterized for the genetic variation of 660 000 genome-wide autosomal single nucleotide polymorphisms and for haploid markers. New autosomal data of the 70 individuals together with previously published data of 20 individuals from the populations of the Western Balkan region in a context of 695 samples of global range have been analysed. Comparison of the variation data of autosomal and haploid lineages of the studied Western Balkan populations reveals a concordance of the data in both sets and the genetic uniformity of the studied populations, especially of Western South-Slavic speakers. The genetic variation of Western Balkan populations reveals the continuity between the Middle East and Europe via the Balkan region and supports the scenario that one of the major routes of ancient gene flows and admixture went through the Balkan Peninsula.

Genetic affinities among the historical provinces of Romania and Central Europe as revealed by an mtDNA analysis

“…It is worth noting that the resemblance between Western Balkan populations follows a nearest neighbor-based model that is in concordance with the geographical distribution [17]. …”

Genetic heritage of Croatians in the Southeastern European gene pool—Y chromosome analysis of the Croatian continental and Island population

“…A considerable number of mtDNA and Y chromosome population‐genetic studies of the SEE region reflect the turbulent and complex demographic history of this region, influenced by gene flow from various parts of Eurasia and a long history of intermixing. It has been suggested that SEE has played a key role in the Upper Paleolithic recolonization of the wider European area, as well as in the Neolithic spread of agriculture from the Near East, serving as a gateway between the Middle East and the rest of Europe (Battaglia et al, ; Forenbaher and Miracle, ; Kovačević et al, ; Marjanović et al, ; Mellars, ; Primorac et al, ; Semino et al, , ).…”

“…Croatia, as a SEE country, has been subject to extensive multidisciplinary anthropological researches for over four decades (Rudan et al, and the references therein) and is situated in a key region between the rest of Europe and the Near East (Kovačević et al, ). The research objective of this particular study is to better characterize the Y chromosome diversity of the Croatian population and enable additional insights into the genetic specifics and historic events that shaped the current genetic landscape of SEE and Croatia.…”

Genetics in Macedonia—Following the international trends

“…Population diversity in the Balkan Peninsula dates back to 8th to 9th century BC (Folk, ), a period when the Balkans was inhabited by the Peony tribe; followed by Hellenistic, Illyrian, and Slavic influence consecutively. Some of the more recent genetic studies based on the analysis of HLA haplotypes, Y‐DNA, and mt‐DNA (Arnaiz‐Villena et al., ; Jakovski, ; Petlichkovski et al., ) indicate that Macedonians originate from “an older Mediterranean lineage.” Studies concerning the genetic markers of the Y chromosome in the Balkan region show that the majority of the Balkan population share the equal genetic pool as the Europeans (Kovacevic et al., ; Noveski, Trivodalieva, Efremov, & Plaseska‐Karanfilska, ; Mirabal et al., ).…”

“…Some of the more recent genetic studies based on the analysis of HLA haplotypes, Y-DNA, and mt-DNA (Arnaiz-Villena et al, 2001 ;Jakovski, 2011;Petlichkovski et al, 2004) indicate that Macedonians originate from "an older Mediterranean lineage." Studies concerning the genetic markers of the Y chromosome in the Balkan region show that the majority of the Balkan population share the equal genetic pool as the Europeans (Kovacevic et al, 2014;Noveski, Trivodalieva, Efremov, & Plaseska-Karanfilska, 2009;Mirabal et al, 2010).…”