Elsevier

Legal Medicine

Volume 15, Issue 2, March 2013, Pages 85-90
Legal Medicine

Sub-population structure evident in forensic Y-STR profiles from Armenian geographical groups

https://doi.org/10.1016/j.legalmed.2012.10.003Get rights and content

Abstract

Over the course of its long history, Armenia has acted as both a source of numerous indigenous cultures and as a recipient of foreign invasions. As a result of this complex history among populations, the gene pool of the Armenian population may contain traces of historically well-documented ancient migrations. Furthermore, the regions within the historical boundaries of Armenia possess unique demographic histories, having hosted both autochthonous and specific exogenous genetic influences. In the present study, we analyze the Armenian population sub-structure utilizing 17 Y-chromosome short tandem repeat (Y-STR) loci of 412 Armenians from four geographically and anthropologically well-defined groups (Ararat Valley, Gardman, Lake Van and Sasun). To place the genetic composition of Armenia in a regional and historic context, we have compared the Y-STR profiles from these four Armenian collections to 18 current-day Eurasian populations and two ancient DNA collections. Our results illustrate regional trends in Armenian paternal lineages and locale-specific patterns of affinities with neighboring regions. Additionally, we observe a phylogenetic relationship between the Northern Caucasus and the group from Sasun, which offers an explanation for the genetic divergence of this group from other three Armenian collections. These findings highlight the importance of analyzing both general populations as well as geographically defined sub-populations when utilizing Y-STRs for forensic analyses and population genetics studies.

Introduction

The Armenian people primarily occupy the highlands at the intersection of Asia, Europe and the Middle East and are characterized by a unique phenotype that shares elements with populations present in all three of these encapsulating regions [1]. Levantine agriculturalists during the early Neolithic era (∼8–10 kya) were likely the primary source population of the Armenian gene pool [2]. From the middle to the late Neolithic, the lands that are known today as historical Armenia were at the geographic center of cultures that spanned Transcaucasia, including the Shulaveri-Shomu Tepe and the Kura-Araxes [3], the latter stretched from Eastern Anatolia throughout the Southern Caucasus and into Northern Syria [4]. The earliest Armenian civilizations, Mitanni (1500–1300 B.C.E.) and Urartu (800–600 B.C.E.), are believed to have been primarily composed of Hurrian speakers whose gene pool consisted of elements from Central Asia (Indo-Europeans), Central Anatolia, Northern Syria and the Caucasus [1], [4]. After 600 B.C.E., however, Armenia was successively invaded by the empires of the Middle East, Europe and Asia, a pattern which lasted until the 20th Century.

Previous genetic studies have demonstrated that Armenians have both a European and a Middle-Eastern heritage [5], [6], [7], [8]. Although variation exists in the genetic affinities between specific Armenian locales and the surrounding European, Asian and Middle-Eastern neighbors, significant Iranian, Balkan and Levantine gene flow are all observed in most Armenian subpopulations [2], [9], [10], [11].

In this study, we employed 17 Y-STR loci routinely employed in forensic and population genetics analyses to examine the diversity of four Armenian collections (Ararat Valley, Gardman, Sasun and Lake Van), each with unique historical backgrounds. We compare these data to 20 geographically targeted Eurasian reference populations, including two ancient DNA collections, to describe the overall genetic Y-STR diversity across separate sectors of the Armenian demographic landscape.

Section snippets

Sample collection and DNA extraction

Buccal swabs from 412 unrelated males identified as ethnically Armenian were collected from the Ararat Valley in southeast Armenia (n = 110), Gardman in Azerbaijan (n = 95), Sasun in western Turkey (n = 104) and the Lake Van area of southwestern Turkey (n = 103). These locations are illustrated in Fig. 1. These four sites were selected because they represent geographically distant Armenian communities within the former territories of Historical Armenia. All samples were procured in accordance with the

Armenian Y-STR diversity

When the discrimination capacity (DC) of Armenia (the four regional collections consider together) is compared (Table 2) to the 18 extant Eurasian reference populations examined in this study (average = 0.8943), Armenia exhibits the second lowest value among them (DC = 0.7275, z-score = −1.66), greater only than the Northern Caucasus population, (DC = 0.6295, z-score = −2.68) revealing that Armenia possesses a relatively low Y-chromosome diversity. Interestingly, this limited diversity appears to part be

Conclusion

Armenia is located at the center of an area of reduced Y-STR diversity in Eurasia, which extends throughout Turkey and the Northern Caucasus. In this study, sub-population structure was detected in the Armenian population when 17 Y-STR loci in 412 Armenians from four geographically and anthropologically well-defined groups (Ararat Valley, Gardman, Lake Van and Sasun) were examined. This finding is forensically significant since within Armenia, the locale of Sasun was found to be particularly

Conflict of interest statement

The authors declare that they have no conflict of interest.

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