Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia.

Kalmyks, the only Mongolic-speaking population in Europe, live in the southeast of the European Plain, in Russia. They adhere to Buddhism and speak a dialect of the Mongolian language. Historical and linguistic evidence, as well a shared clan names, suggests a common origin with Oirats of western Mongolia; yet, only a limited number of genetic studies have focused on this topic. Here we compare the paternal genetic relationship of Kalmyk clans with ethnographically related groups from Mongolia, Kyrgyzstan and China, within the context of their neighbouring populations. A phylogeny of 37 high-coverage Y-chromosome sequences, together with further genotyping of larger sample sets, reveals that all the Oirat-speaking populations studied here, including Kalmyks, share, as a dominant paternal lineage, Y-chromosomal haplogroup C3c1-M77, which is also present in several geographically distant native Siberian populations. We identify a subset of this clade, C3c1b-F6379, specifically enriched in Kalmyks as well as in Oirat-speaking clans in Inner Asia. This sub-clade coalesces at around 1500 years before present, before the Genghis Khan era, and significantly earlier than the split between Kalmyks and other Oirat speakers about 400 years ago. We also show that split between the dominant hg C variant among Buryats-C3-M407-and that of C3-F6379, took place in the Early Upper Palaeolithic, suggesting an extremely long duration for the dissipation of hg C3-M217 carriers across northern Eurasia, which cuts through today's major linguistic phyla.

Between Lake Baikal and the Baltic Sea: genomic history of the gateway to Europe.

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.

The genetic legacy of the expansion of Turkic-speaking nomads across Eurasia.

The Turkic peoples represent a diverse collection of ethnic groups defined by the Turkic languages. These groups have dispersed across a vast area, including Siberia, Northwest China, Central Asia, East Europe, the Caucasus, Anatolia, the Middle East, and Afghanistan. The origin and early dispersal history of the Turkic peoples is disputed, with candidates for their ancient homeland ranging from the Transcaspian steppe to Manchuria in Northeast Asia. Previous genetic studies have not identified a clear-cut unifying genetic signal for the Turkic peoples, which lends support for language replacement rather than demic diffusion as the model for the Turkic language's expansion. We addressed the genetic origin of 373 individuals from 22 Turkic-speaking populations, representing their current geographic range, by analyzing genome-wide high-density genotype data. In agreement with the elite dominance model of language expansion most of the Turkic peoples studied genetically resemble their geographic neighbors. However, western Turkic peoples sampled across West Eurasia shared an excess of long chromosomal tracts that are identical by descent (IBD) with populations from present-day South Siberia and Mongolia (SSM), an area where historians center a series of early Turkic and non-Turkic steppe polities. While SSM matching IBD tracts (> 1cM) are also observed in non-Turkic populations, Turkic peoples demonstrate a higher percentage of such tracts (p-values ≤ 0.01) compared to their non-Turkic neighbors. Finally, we used the ALDER method and inferred admixture dates (~9th-17th centuries) that overlap with the Turkic migrations of the 5th-16th centuries. Thus, our results indicate historical admixture among Turkic peoples, and the recent shared ancestry with modern populations in SSM supports one of the hypothesized homelands for their nomadic Turkic and related Mongolic ancestors.

Analysis of genetic variants of class II cytokine and their receptor genes in psoriasis patients of two ethnic groups from the Volga-Ural region of Russia.

BACKGROUND: The molecular basis of pathogenesis of psoriasis remains unclear, but one unifying hypothesis of disease aetiology is the cytokine network model. The class II cytokines (CF2) and their receptors (CRF2) are all involved in the inflammatory processes and single nucleotide polymorphisms (SNPs) in respective genes have been associated with psoriasis in a previous study of the Estonian population. OBJECTIVE: We performed a replication study of 47 SNPs in CF2 and CRF2 genes in independent cohorts of psoriasis patients of two ethnic groups (Russians and Bashkirs) from the Volga-Ural region of Russia. METHODS: DNA was obtained from 395 psoriasis patients of two ethnic groups from the Volga-Ural region of Russia and 476 ethnically matched controls. 47 SNPs in the loci of the genes encoding Class II cytokines and their receptors were selected by SNPbrowser version 3.5. Genotyping was performed using the SNPlex™ (Applied Biosystems) platform. RESULTS: The genetic variant rs30461 previously associated in original case-control study in Estonians, was also associated in Russians (corrected P-value (Pc=0.008, OR=0.44), but did not reach statistical significance in the Bashkir population. Additionally, the haplotype analysis provided that CC haplotype formed by the SNPs rs30461 and rs955155 had a protective effect in Russians (Pc=0.0024, OR=0.44), supporting the involvement of this locus in the protection against psoriasis. Combined meta-analysis of three populations, including 943 psoriasis patients and 812 healthy controls, showed that the IL29 rs30461 C-allele was not associated with decreased risk of psoriasis (P=0.165, OR=0.68). Moreover, stratification of studies by ethnicity revealed a significant association in the European cohort (P=9.506E-006, OR=0.53). CONCLUSION: Therefore, there is no overall evidence of association between psoriasis and SNP rs30461 of the IL29 gene, but there is some evidence to suggest that an association exists in Europeans. However, this current concept should be considered as preliminary and the results need to be confirmed in future independent studies.

Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia.

Hearing impairment is one of the most common disorders of sensorineural function and the incidence of profound prelingual deafness is about 1 per 1000 at birth. GJB2 gene mutations make the largest contribution to hereditary hearing impairment. The spectrum and prevalence of some GJB2 mutations are known to be dependent on the ethnic origin of the population. This study presents data on the carrier frequencies of major GJB2 mutations, c.35delG, c.167delT and c.235delC, among 2308 healthy persons from 18 various populations of Eurasia: Russians, Bashkirs, Tatars, Chuvashes, Udmurts, Komi-Permyaks and Mordvins (Volga-Ural region of Russia); Belarusians and Ukrainians (East Europe); Abkhazians, Avars, Cherkessians and Ingushes (Caucasus); Kazakhs, Uighurs and Uzbeks (Central Asia); and Yakuts and Altaians (Siberia). The data on c.35delG and c.235delC mutation prevalence in the studied ethnic groups can be used to investigate the prospective founder effect in the origin and prevalence of these mutations in Eurasia and consequently in populations around the world.

An STR database on the Volga-Ural population.

This work develops a reference STR database on the Volga-Ural population, Russia, comprised of 640 individuals that were sampled from eight ethnic groups (Finno-Ugric Mari, Mordva-Moksha, Mordva-Erzja, Komi-Permjak, and Udmurt, and Turkic-speaking Bashkir, Tatar-Mishary, and Chuvash) and typed with 10 autosomal STR markers: TH01, CSF1P0, FGA, vWA, D3S1358, TPOX, D16S539, D8S1179, D13S317, FES. The groups differentiate in allele frequencies, and therefore we computed theta-values between allele frequencies in each ethnic groups and those in the database as a measure of their differentiation. Nevertheless, the Volga-Ural ethnic groups form a relatively compact cluster that greatly deviate from the Romanic Moldovans and the Turkic Yakuts, taken for comparison, and are closer to the Slavic Russians, Belarusians, and Ukrainians, although significantly differ from those as well.