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Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa
https://bmcgenomics.biomedcentral.co...71-2164-15-963
According to the study, Turks cluster with Southern Europeans, however, the weights for the migration events predicted to originate from the East Asian branch into current-day Turkey was 0.217 which mean that modern day Turks carry 21.7% Asian dna in them.
Abstract
Background
Turkey is a crossroads of major population movements throughout history and has been a hotspot of cultural interactions. Several studies have investigated the complex population history of Turkey through a limited set of genetic markers. However, to date, there have been no studies to assess the genetic variation at the whole genome level using whole genome sequencing. Here, we present whole genome sequences of 16 Turkish individuals resequenced at high coverage (32 × -48×).
Results
We show that the genetic variation of the contemporary Turkish population clusters with South European populations, as expected, but also shows signatures of relatively recent contribution from ancestral East Asian populations. In addition, we document a significant enrichment of non-synonymous private alleles, consistent with recent observations in European populations. A number of variants associated with skin color and total cholesterol levels show frequency differentiation between the Turkish populations and European populations. Furthermore, we have analyzed the 17q21.31 inversion polymorphism region (MAPT locus) and found increased allele frequency of 31.25% for H1/H2 inversion polymorphism when compared to European populations that show about 25% of allele frequency.
Conclusion
This study provides the first map of common genetic variation from 16 western Asian individuals and thus helps fill an important geographical gap in analyzing natural human variation and human migration. Our data will help develop population-specific experimental designs for studies investigating disease associations and demographic history in Turkey.
Although the 1000 Genomes Project published in 2012 [2] had aimed to provide a comprehensive map of human genetic variation, it was not complete: populations in the Eastern Mediterranean and the Middle East were missing from that study. In this paper, we present data from high depth whole genome sequencing of 16 individuals from modern day Turkey to complement the 1000 Genomes Project in an effort to extend our understanding of normal human genetic variation. We provide the first preliminary genome-wide map of single nucleotide variation, as well as deletion polymorphisms in this population and in western Asia.
Our analyses show that genetic variation of the contemporary Turkish population is best described within the context of the Southern European/Mediterranean gene pool. However, we predict notable genetic sharing between Turkey’s population and East Asian and African populations. As expected from recent studies, rare and private genetic variation in Turkey has presumably more functional impact than variation shared among populations. We further identified SNPs that were previously associated with diseases that show allele frequency differentiation between Turkey and other Western European populations. Among these, those associated with pigmentation were at lower frequencies in Turkey than in Europe; meanwhile variants associated with total cholesterol levels were at higher levels in the former. Overall, our study improves the framework for population genomics studies in the region, and should incite novel genome-wide association studies in Turkey. Future studies using larger sample sizes will be able to elucidate population structure and history in more detail.
16 Turks were selected from these parts of Turkey
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