Alu insertion polymorphisms in the Balkans and the origins of the Aromuns

Abstract

SummaryWe have analysed 11 human-specific Alu insertion polymorphisms in the Balkans to elucidate the origins of the Aromuns, a linguistic isolate inhabiting scattered areas in the Balkan Peninsula. Four Aromun samples (two from the Republic of Macedonia, one from Albania, and one from Romania) and five neighbouring populations (Macedonians, Albanians, Romanians, Greeks, and Turks) were analysed by means of genetic distances, principal components and analyses of the molecular variance (AMOVA). Three hypotheses were tested: Aromuns are Romanophonic Greeks; the result of a Romanian southward migration; or local descendants of the Thracians. The analyses show that the Aromuns do not constitute a homogeneous group separated from the rest of the Balkan populations. Grouping by language or geography does not explain the genetic differences observed in the region, suggesting a lack of genetic structure in the area. Aromuns do not seem to be particularly related to Greeks, Romanians, or to other Romance speakers. The Aromuns might have their origin to the south of the Danube river, with extensive gene flow with the neighbouring populations. The present results suggest a common ancestry of all Balkan populations, including Aromuns, with a lack of correlation between genetic differentiation and language or ethnicity, stressing that no major migration barriers have existed in the making of the complex Balkan human puzzle.

Potential association of obesity with IL6 G-174C polymorphism and TTV infections

“…TTV is common in blood donors [68] and a high percentage of the general population exhibits chronic viraemia (around 80% in some areas) [69]. In the control group the minor alleles frequencies of IL6 G-174C (-174 C: 0.2133) [70], ACE ID (I: 0.4767) [71] and ATR1 A1166C (1166 C: 0.2967) [62,72] were in the range of data reported for other worldwide populations.…”

A Tale of Aborigines, Conquerors and Slaves: Alu Insertion Polymorphisms and the Peopling of Canary Islands

“…Polymorphic Alu insertions (PAI), scattered throughout the human genome, occur as unique events in our evolution and are apparently selectively neutral (Batzer & Deininger, 2002). These markers have been used extensively for population structure and evolution, both at global (Bazter et al 1996;Antúnez-de-Mayolo et al 2002;Romualdi et al 2002;Bamshad et al 2003) and regional levels (Majumder et al 1999;Comas et al 2000Comas et al , 2004Martínez de Pancorbo et al 2001;Nasidze et al 2001). In this study, we genotyped 10 PAI in samples from the seven main islands of the Canarian archipelago, in order to fill in the gaps in autosomal studies.…”

Human Alu Insertion Polymorphisms in North African Populations

“…Among these young Alu elements, approximately 25% have inserted so recently that they are polymorphic among different human population groups, families, or even individuals with respect to their presence or absence in the genome (Batzer and Deininger, 2002). Because Alu insertions are unique events that are identical bydescent, they have been useful in genetic mapping and population genetics studies (Batzer et al, 1994;Batzer and Deininger, 1991;Perna et al, 1992;Roy-Engel et al, 2001;Salem et al, 2003;Stoneking et al, 1997;Tishkoff et al, 2000) Alu markers have been used extensively for population structure and evolution, both at global (Bazter et al 1996;Romualdi et al 2002;Bamshad et al 2003) and regional levels (Majumder et al 1999;Comas et al 2000Comas et al , 2004de Pancorbo et al 2001;Nasidze et al 2001;Ennafaa et al 2006;Bahri et al 2008;Frigi et al 2010a). The objective of this study is to compare the genetic structure of some North African populations with respect to the other populations of North Africa, Western, Eastern and Central Europe, by using MDS and AMOVA methods.…”