ABSTRACT
BACKGROUND: The history of human populations occupying the plains and mountain ridges separating Europe from Asia has been eventful, as these natural obstacles were crossed westward by multiple waves of Turkic and Uralic-speaking migrants as well as eastward by Europeans. Unfortunately, the material records of history of this region are not dense enough to reconstruct details of population history. These considerations stimulate growing interest to obtain a genetic picture of the demographic history of migrations and admixture in Northern Eurasia. RESULTS: We genotyped and analyzed 1076 individuals from 30 populations with geographical coverage spanning from Baltic Sea to Baikal Lake. Our dense sampling allowed us to describe in detail the population structure, provide insight into genomic history of numerous European and Asian populations, and significantly increase quantity of genetic data available for modern populations in region of North Eurasia. Our study doubles the amount of genome-wide profiles available for this region. We detected unusually high amount of shared identical-by-descent (IBD) genomic segments between several Siberian populations, such as Khanty and Ket, providing evidence of genetic relatedness across vast geographic distances and between speakers of different language families. Additionally, we observed excessive IBD sharing between Khanty and Bashkir, a group of Turkic speakers from Southern Urals region. While adding some weight to the "Finno-Ugric" origin of Bashkir, our studies highlighted that the Bashkir genepool lacks the main "core", being a multi-layered amalgamation of Turkic, Ugric, Finnish and Indo-European contributions, which points at intricacy of genetic interface between Turkic and Uralic populations. Comparison of the genetic structure of Siberian ethnicities and the geography of the region they inhabit point at existence of the "Great Siberian Vortex" directing genetic exchanges in populations across the Siberian part of Asia. Slavic speakers of Eastern Europe are, in general, very similar in their genetic composition. Ukrainians, Belarusians and Russians have almost identical proportions of Caucasus and Northern European components and have virtually no Asian influence. We capitalized on wide geographic span of our sampling to address intriguing question about the place of origin of Russian Starovers, an enigmatic Eastern Orthodox Old Believers religious group relocated to Siberia in seventeenth century. A comparative reAdmix analysis, complemented by IBD sharing, placed their roots in the region of the Northern European Plain, occupied by North Russians and Finno-Ugric Komi and Karelian people. Russians from Novosibirsk and Russian Starover exhibit ancestral proportions close to that of European Eastern Slavs, however, they also include between five to 10 % of Central Siberian ancestry, not present at this level in their European counterparts. CONCLUSIONS: Our project has patched the hole in the genetic map of Eurasia: we demonstrated complexity of genetic structure of Northern Eurasians, existence of East-West and North-South genetic gradients, and assessed different inputs of ancient populations into modern populations.
Subject(s)
Emigration and Immigration/history , Ethnicity/genetics , Genetics, Population , Algorithms , Asia , DNA , Datasets as Topic , Europe , Female , Genetic Variation , Genotyping Techniques , History, 15th Century , History, 16th Century , History, 17th Century , History, 18th Century , History, 19th Century , History, 20th Century , History, 21st Century , History, Ancient , History, Medieval , Humans , Male , RussiaABSTRACT
INTRODUCTION: Running races on mountain trails at moderate-high altitude with large elevation changes throughout has become increasingly popular. During exercise at altitude, ventilatory demands increase due to the combined effects of exercise and hypoxia. AIM: To investigate the relationships between thoraco-abdominal coordination, ventilatory pattern, oxygen saturation (SpO2), and endurance performance in runners during high-intensity uphill exercise. METHODS: Fifteen participants (13 males, mean age 42±9 yrs) ran a "Vertical Kilometer," i.e., an uphill run involving a climb of approximately 1000 m with a slope greater than 30%. The athletes were equipped with a portable respiratory inductive plethysmography system, a finger pulse oximeter and a global positioning unit (GPS). The ventilatory pattern (ventilation (VE), tidal volume (VT), respiratory rate (RR), and VE/VT ratio), thoraco-abdominal coordination, which is represented by the phase angle (PhA), and SpO2 were evaluated at rest and during the run. Before and after the run, we assessed respiratory function, respiratory muscle strength and the occurrence of interstitial pulmonary edema by thoracic ultrasound. RESULTS: Two subjects were excluded from the respiratory inductive plethysmography analysis due to motion artifacts. A quadratic relationship between the slope and the PhA was observed (r = 0.995, p = 0.036). When the slope increased above 30%, the PhA increased, indicating a reduction in thoraco-abdominal coordination. The reduced thoraco-abdominal coordination was significantly related to reduced breathing efficiency (i.e., an increased VE/VT ratio; r = 0.961, p = 0.038) and SpO2 (r = -0.697, p<0.001). Lower SpO2 values were associated with lower speeds at 20%≥slope≤40% (r = 0.335, p<0.001 for horizontal and r = 0.36, p<0.001 for vertical). The reduced thoraco-abdominal coordination and consequent reduction in SpO2 were associated with interstitial pulmonary edema. CONCLUSION: Reductions in thoraco-abdominal coordination are associated with a less efficient ventilatory pattern and lower SpO2 during uphill running. This fact could have a negative effect on performance.
Subject(s)
Altitude , Running/physiology , Adult , Female , Humans , Male , Middle Aged , Oximetry , Oxygen Consumption/physiology , Respiration , Respiratory Rate/physiology , Tidal Volume/physiologyABSTRACT
The area between the Dniester and the eastern Carpathian mountain range is at a geographical crossroads between eastern Europe and the Balkans. Little is known about the genetics of the population of this region. We performed an analysis of 12 binary autosomal markers in samples from six Dniester-Carpathian populations: two Moldavian, one Romanian, one Ukrainian and two Gagauz populations. The results were compared with gene frequency data from culturally and linguistically related populations from Southeast Europe and Central Asia. Small genetic differences were found among southeastern European populations (in particular those of the Dniester-Carpathian region). The observed homogeneity suggests either a very recent common ancestry of all southeastern European populations or strong gene flow between them. Despite this low level of differentiation, tree reconstruction and principle component analyses allowed a distinction between Balkan-Carpathian (Macedonians, Romanians, Moldavians, Ukrainians and Gagauzes) and eastern Mediterranean (Turks, Greeks and Albanians) population groups. The genetic affinities among Dniester-Carpathian and southeastern European populations do not reflect their linguistic relationships. The results indicate that the ethnic and genetic differentiations occurred in these regions to a considerable extent independently of each other. In particular, Gagauzes, a Turkic-speaking population, show closer affinities to their geographical neighbors than to other Turkic populations.