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Objective This study assesses the accuracy of the IrisPlex system, a genetic eye color prediction tool for forensic analysis, in the Kazakh population. The study compares previously published genotypes of 515 Kazakh individuals from varied geographical and ethnohistorical contexts with phenotypic data on their eye color, introduced for the first time in this research. Results The IrisPlex panel’s effectiveness in predicting eye color in the Kazakh population was validated. It exhibited slightly lower accuracy than in Western European populations but was higher than in Siberian populations. The sensitivity was notably high for brown-eyed individuals (0.99), but further research is needed for blue and intermediate eye colors. This study establishes IrisPlex as a useful predictive tool in the Kazakh population and provides a basis for future investigations into the genetic basis of phenotypic variations in this diverse population.

In order to be digested, the disaccharide trehalose needs to be cleaved by the trehalase enzyme. There were reports suggesting that trehalase deficiency was more common in high-latitude than in the temperate climate populations. New horizons were opened for the epidemiologic research of trehalase enzymopathy when it became clear that reduced trehalase activity is determined by the A allele of tTREH gene (rs2276064). The aim of this study was to analyze the frequencies of the trehalase gene alleles and genotypes among the indigenous peoples of Siberia and the Russian Far East. We genotyped 567 samples representing the indigenous peoples of Siberia and the Russian Far East and 146 samples representing Eastern Slavs as the reference dataset. We found that the frequencies of the A*TREH alleles increased to the east. The A*TREH allele frequency was 0.03 in the reference group, 0.13-0.26 in the North-West Siberian indigenous populations, 0.29-0.30 in the South Siberia, 0.43 in West Siberia, and 0.46 in the low Amur populations. The highest frequency of the A allele (0.63) was observed in the Chukchi and Koryak populations. From 1 to 5% of European origin individuals are at risk of trehalase enzymopathy. In the indigenous populations, the frequency of the A*TREH allele varies 13% to 63%, whereas the frequency of the AA*TREH genotype from 3% to 39%. Thus, the total risk of trehalase enzymopathy among the homo- and heterozygous carriers of the A*TREH allele in the studied indigenous populations may be as high as 24% to 86%.

Background Predicting the eye and hair color from genotype became an established and widely used tool in forensic genetics, as well as in studies of ancient human populations. However, the accuracy of this tool has been verified on the West and Central Europeans only, while populations from border regions between Europe and Asia (like Caucasus and Ural) also carry the light pigmentation phenotypes. Results We phenotyped 286 samples collected across North Eurasia, genotyped them by the standard HIrisPlex-S markers and found that predictive power in Caucasus/Ural/West Siberian populations is reasonable but lower than that in West Europeans. As these populations have genetic ancestries different from that of West Europeans, we hypothesized they may carry a somewhat different allele spectrum. Thus, for all samples we performed the exome sequencing additionally enriched with the 53 genes and intergenic regions known to be associated with the eye/hair color. Our association analysis replicated the importance of the key previously known SNPs but also identified five new markers whose eye color prediction power for the studied populations is compatible with the two major previously well-known SNPs. Four out of these five SNPs lie within the HERС2 gene and the fifth in the intergenic region. These SNPs are found at high frequencies in most studied populations. The released dataset of exomes from Russian populations can be further used for population genetic and medical genetic studies. Conclusions This study demonstrated that precision of the established systems for eye/hair color prediction from a genotype is slightly lower for the populations from the border regions between Europe and Asia that for the West Europeans. However, this precision can be improved if some newly revealed predictive SNPs are added into the panel. We discuss that the replication of these pigmentation-associated SNPs on the independent North Eurasian sample is needed in the future studies.

Information about the distribution of clinically significant genetic markers in different populations may be helpful in elaborating personalized approaches to the clinical management of COVID-19 in the absence of consensus guidelines. Analyze frequencies and distribution patterns of two markers associated with severe COVID-19 ( and ) and look for potential correlations between these markers and deaths from COVID-19 among populations in Russia and across the world. We genotyped 1883 samples from 91 ethnic groups pooled into 28 populations representing Russia and its neighbor states. We also compiled a dataset on 32 populations from other regions using genotypes extracted or imputed from the available databases. Geographic maps showing the frequency distribution of the analyzed markers were constructed using the obtained data. The cartographic analysis revealed that distribution follows the West Eurasian pattern: the marker is frequent among the populations of Europe, West Asia and South Asia but rare or absent in all other parts of the globe. Notably, the transition from high to low frequencies across Eurasia is not abrupt but follows the clinal variation pattern instead. The distribution of is more homogeneous. The analysis of correlations between the frequencies of the studied markers and the epidemiological characteristics of COVID-19 in a population revealed that higher frequencies of both risk alleles correlated positively with mortality from this disease. For , the correlation was especially strong (r = 0.59, = 0.02). These reasonable correlations were observed for the \"Russian\" dataset only: no such correlations were established for the \"world\" dataset. This could be attributed to the differences in methodology used to collect COVID-19 statistics in different countries. Our findings suggest that genetic differences between populations make a small yet tangible contribution to the heterogeneity of the pandemic worldwide.

Background: Eastern Finnic populations, including Karelians, Veps, Votes, Ingrians, and Ingrian Finns, are a significant component of the history of Finnic populations, which have developed over ~3 kya. Yet, these groups remain understudied from a genetic point of view. Methods: In this work, we explore the gene pools of Karelians (Northern, Tver, Ludic, and Livvi), Veps, Ingrians, Votes, and Ingrian Finns using Y-chromosome markers (N = 357) and genome-wide autosomes (N = 67) and in comparison with selected Russians populations of the area (N = 763). The data are analyzed using statistical, bioinformatic, and cartographic methods. Results: The autosomal gene pool of Eastern Finnic populations can be divided into two large categories based on the results of the PCA and ADMIXTURE modeling: (a) “Karelia”: Veps, Northern, Ludic, Livvi, and Tver Karelians; (b) “Ingria”: Ingrians, Votes, Ingrian Finns. The Y-chromosomal gene pool of Baltic Finns is more diverse and is composed of four genetic components. The “Northern” component prevails in Northern Karelians and Ingrian Finns, the “Karelian” in Livvi, Ludic, and Tver Karelians, the “Ingrian-Veps” in Ingrians and Veps (a heterogeneous cluster occupying an intermediate position between the “Northern” and the “Karelian” ones), and the “Southern” in Votes. Moreover, our phylogeographic analysis has found that the Y-haplogroup N3a4-Z1927 carriers are frequent among most Eastern Finnic populations, as well as among some Northern Russian and Central Russian populations. Conclusions: The autosomal clustering reflects the major areal groupings of the populations in question, while the Y-chromosomal gene pool correlates with the known history of these groups. The overlap of the four Y-chromosomal patterns may reflect the eastern part of the homeland of the Proto-Finnic gene pool. The carriers of the Y-haplogroup N3a4-Z1927, frequent in the sample, had a common ancestor at ~2.4 kya, but the active spread of N3a4-Z1927 happened only at ~1.7–2 kya, during the “golden” age of the Proto-Finnic culture (the archaeological period of the “typical” Tarand graves). A heterogeneous Y-chromosomal cluster containing Ingrians, Veps, and Northern Russian populations, should be further studied.

Background/Objectives: The eastern periphery of the Slavic expansion (the Volga-Oka region) is the most promising region for reconstructing interactions between Slavic and pre-Slavic populations of the East European Plain. Unlike most pre-Slavic tribes, its autochthonous population practiced inhumation instead of cremation, leaving us with some ancient DNA for analysis. Methods: The region’s modern and ancient Y-chromosome gene pools are dominated by the haplogroup R1a: its frequency reaches 56% in Ryazan Russians (n = 302) and 44% in the Finnic peoples of Mordovia (n = 633). This encouraged us to analyze its Y-SNPs and Y-STRs. Results: Using 2 independent methods of phylogeny analysis, we identified 10 informative Y-STR clusters within R1a, dating back 1600–2900 YBP. The clusters included 48% of modern Ryazan Russians, 40% of Mordovia’s Finnic populations, and ancient DNA samples from the Ryazan-Oka culture (6–7th centuries), Suzdal (12–13th centuries) and Vladimir (13th century). Such a unique combination and pre-Slavic TMRCA indicate that the informative clusters represent pre-Slavic Y lineages. The presence of ancient samples from Vladimir and Suzdal in the clusters suggests that the autochthonous tribes contributed to shaping the urban population of the Vladimir-Suzdal Rus. Some of the informative clusters are associated with the ancient population of the Baltics (2000–4000 YBP). Conclusions: About half of Russian R1a carriers in the Volga-Oka region are descended from a pre-Slavic population, suggesting that the Slavs did not fully replace the autochthonous population but rather mostly culturally assimilated the Meshchyora documented in the Russian chronicles and other local tribes.

WHENEVER someone says. \"Do you want me to be perfectly frank?\" I wince. For sad experience has taught me that this \"truth-addict\" is about to dispense either an unwelcome fact or an expression of opinion more apt to distress than impress.

Whenever someone says, \"Do you want me to be perfectly frank?\" I wince. For sad experience has taught me that this \"truth addict\" is about to dispense either an unwelcome fact or an expression of opinion more apt to distress than impress.

WHENEVER someone says, \"Do you want me to be perfectly frank?\" I wince. For sad experience has taught me that this \"truth addict\" is about to dispense either an unwelcome fact or an expression of opinion more apt to distress than impress.