It has been shown that Y-haplogroup N3a1-B211 is common in the Finnish-speaking peoples of the Ural-Volga region. The study aimed to investigate gene geography and phylogeography of the westernmost variant of this haplogroup: the N3a1-Y23475 branch. Comprehensive genotyping of 395 haplogroup N3a1-B211 carriers from 29 populations of Eastern Europe, Ural-Volga region, and Siberia revealed 78 carriers of its western branch reaching its maximum frequency in Mordovia's suggest the role of the Finnish-speaking substrate in their gene pools. According to the phylogenetic analysis data, the N3a1-Y23475 branch emerged 2.3-2.7 thousand years ago, but active accumulation of its current diversity took place mainly in the populations of Mordovia during the last millennium. We performed DNA genotyping in 74 haplogoup N3a1-Y23475 carriers using the 37 Y-STR panel. The Y-STR haplotype phylogenetic network created suggests two periods of population growth in ancestors of Mordovia's indigenous population: about 1000 years ago in the populations of proto-Erzya and proto-Shoksha, about 500 years ago in the populations of Moksha and Shoksha. The fact of finding haplogroup N3a1-Y23475 in the Northern and Southern Altaians requires further research. Position of Northern Altaians-Kumandins in the phylogenetic network presumably reflects migration of Mordovia's population to Altai in the 19th-20th centuries. The age estimates reported for Southern Altaians-Telengits can indicate the association with the haplogroup N3a1 ancestral homeland in South Siberia before resettlement of its ancient carriers in the Ural-Volga region about 1.7 thousand years ago.

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.

Pokazano, chto Y-gaplogruppa N3a1-B211 rasprostranena v populyatsiyakh finnoyazychnykh narodov Uralo-Povolzh'ya. Tsel'yu issledovaniya bylo izucheniye genogeografii i filogeografii samogo zapadnogo varianta etoy gaplogruppy: vetvi N3a1-Y23475. Pri detal'nom genotipirovanii 395 nositeley gaplogruppy N3a1-B211 iz 29 populyatsiy Vostochnoy Yevropy, Uralo-Povolzh'ya i Sibiri vyyavleno 78 nositeley yeye zapadnoy vetvi, kotoraya dostigayet maksimal'nykh chastot v populyatsiyakh Mordovii (8% — u mokshi, 9% — u erzi, 25% — u ten'gushevskikh erzi-shokshi). Nizkiye chastoty N3a1-Y23475 v tyurkoyazychnykh i slavyanskikh populyatsiyakh mogut ukazyvat' na rol' finnoyazychnogo substrata v ikh genofondakh. Po dannym filogeneticheskogo analiza vetv' N3a1-Y23475 voznikla 2,3–2,7 tys. let nazad, no aktivnoye nakopleniye yeye sovremennogo raznoobraziya proiskhodilo preimushchestvenno v populyatsiyakh Mordovii v techeniye poslednego tysyacheletiya. Provedeno genotipirovaniye DNK 74 nositeley gaplogruppy N3a1-Y23475 po paneli 37 Y-STR. Sozdannaya filogeneticheskaya set' Y-STR gaplotipov ukazyvayet na dva perioda demograficheskogo rosta u predkov korennogo naseleniya Mordovii: okolo 1000 let nazad v populyatsiyakh praerzi i prashokshi, okolo 500 let nazad — v populyatsiyakh mokshi i shokshi. Vyyavlennoye nalichiye gaplogruppy N3a1-Y23475 u severnykh i yuzhnykh altaytsev trebuyet prodolzheniya issledovaniya. Polozheniye severnykh altaytsev-kumandintsev na filogeneticheskoy seti predpolozhitel'no otrazhayet migratsiyu mordovskogo naseleniya na Altay v XIX–XX vv. Geneticheskaya datirovka dlya yuzhnykh altaytsev-telengitov mozhet ukazyvat' na svyaz' s prarodinoy gaplogruppy N3a1 v Yuzhnoy Sibiri do rasseleniya yeye drevnikh nositeley v Uralo-Povolzh'ye okolo 1,7 tys. let nazad.

To date, it has been established that the patient's genotype plays a significant role in the formation of trehalase enzymopathy: the level of enzyme activity decreases when the G→A allele replacement occurs in the rs2276064 locus of the TREH gene. To assess the prevalence of trehalase deficiency, extensive population-based studies are needed. Clinical observations show that the reduced activity of bowel trehalase is more common in the Arctic than in European populations. The aim of this research was to analyze the frequency of the alleles and variants of trehalase gene (rs2276064 TREH) in the indigenous small-numbered populations of Siberia and the Russian Far East. Material and methods. Using the Infinium iSelect HD Custom BeadChip biochip on the iScan platform and real-time polymerase chain reaction on a Bio-Rad CFX96 Touch amplifier, genotyping of 1068 DNA samples was carried out, of which 711 represent 10 ethnic groups of the indigenous people of the North of Siberia and the Far East of the Russian Federation. Two reference groups of Russians (n=311) and Yakuts (n=46) represented the "Caucasoid" and "Mongoloid" poles of the Russian population. Results. The reduced trehalase activity that the heterozygous GA*TREH genotype determines can manifest itself in 19.8-53.7% of indigenous northerners. An additional 1.0 to 19.7% of the population are carriers of the AA*TREH genotype, which is associated with apparent trehalose malabsorption. The carriers may experience nausea, abdominal pain, and other dyspeptic symptoms after eating trehalose containing foods. The total risk of trehalase enzymopathy among the indigenous northerners in the Asian part of the Russian Federation is very high and can reach 60-70%. There is a gradient in the A*TREH allele frequencies in the small-numbered indigenous northern groups of Russia from the west (Khanty, Mansi, Nenets) to the east (peoples of the Far East). Conclusion. The results are consistent with previously reported data on the higher carriage of the A*TREH mutant allele in Mongoloid populations compared to Caucasoid groups. It was hypothesized that, while the initial A*TREH allele prevalence in Mongoloid groups was moderately high, an adaptation to a low-sugar protein-lipid "high-latitude" diet led to a weaker control over the maintenance of the carriage of the ancestral G allele. Trehalose malabsorption requires special attention of specialists in the field of nutrition, gastroenterology, public health, and medical genetics working in high-latitude regions.

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.

Geneticheskoe testirovanie kazhdogo pacienta dlya vyyavleniya nositel'stva farmakogeneticheskih markerov problemno dlya sistemy zdravoohraneniya. No znanie chastoty vstrechaemosti farmakogeneticheski vazhnyh genov pozvolyaet prinimat' reshenie o terapii v zavisimosti ot etnicheskoj prinadlezhnosti pacienta. Odnim iz naibolee znachimyh yavlyaetsya gen citohroma CYP2C19, uchastvuyushchij v biotransformacii shirokogo spektra lekarstvennyh preparatov. Cel'yu raboty bylo vyyavit' chastoty vstrechaemosti osnovnyh variantov CYP2C19 i patterny ih prostranstvennoj izmenchivosti v narodonaselenii Rossii. Na osnove sozdannoj kollektivom bazy dannyh «Farmakogenetika populyacij Rossii i sopredel'nyh stran» polucheny chastoty variantov CYP2C19 *1, *2, *3, *17 i chastoty ih genotipov: *1 — 53 populyacii, n = 2261 obrazec; *2 — 79 populyacij, n = 6346; *3 — 92 populyacii, n = 7517; *17 — 35 populyacij, n = 3313. Sozdan kartograficheskij atlas, vklyuchayushchij karty chastoty variantov *1, *2, *3, *17, ih korrelyacionnye karty i karty chastoty ih genotipov. Predstavleny konkretnye dannye o chastotah variantov CYP2C19 i ih farmakogeneticheski znachimyh genotipah v osnovnyh etnicheskih gruppah Rossii. Kartograficheskij atlas daet prognoz chastoty znachimyh variantov CYP2C19 i ih genotipov dlya narodov, informaciya o kotoryh poka otsutstvuet. Genogeografiya *1 i *2 harakterizuetsya skhozhim patternom: sovmeshchenie dolgotnogo trenda rosta chastoty s zapada na yugo-vostok i shirotnogo rosta chastoty s severa na yug v aziatskoj chasti regiona. Variant *3 otlichaetsya chetkost'yu dolgotnogo vektora rosta chastoty ot 0 na zapade do mirovogo maksimuma chastoty v Priamur'e. Variant *17 imeet vyrazitel'nyj dolgotnyj trend s protivopolozhnym vektorom padeniya chastoty s zapada na yugo-vostok. Korrelyacionnye karty ukazyvayut regiony, v kotoryh narusheno skhodstvo mezhdu osnovnymi patternami.

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%.

Genetic testing of each patient aimed at detecting the pharmacogenetic marker carrier state is challenging for healthcare system. However, knowledge about the frequencies of pharmacogenetically important genes enables making decisions about treatment based on the patient’s ethnicity. The CYP2C19 cytochrome gene involved in biotransformation of a broad spectrum of drugs is one of the most important. The study was aimed to determine the frequencies of major CYP2C19 variants and the patterns of their spatial variability in the population of Russia. The database Pharmacogenetics of the Population of Russia and Neighboring Countries created by the research team was used to determine frequencies of the CYP2C19 *1, *2, *3, *17 variants and their genotypes: *1 – 53 populations, n = 2261 samples; *2 — 79 populations, n = 6346; *3 — 92 populations, n = 7517; *17 — 35 populations, n = 3313. We have created a cartographic atlas that includes the *1, *2, *3, *17 frequency maps, correlation maps, and genotype frequency maps. Specific data on the frequencies of CYP2C19 variants and their pharmacogenetically significant genotypes in the major ethnic groups of Russia are provided. The cartographic atlas enables prediction of frequencies of significant CYP2C19 variants and their genotypes in the peoples, information about which is currently missing. The *1 and *2 variants gene geography is characterized by similar pattern: the combination of longitudinal trend of frequency increase from west to southeast and latitudinal variability of frequency increase from north to south in the Asian part of the region. Variant *3 is characterized by the clear longitudinal vector of frequency increase from 0 in the west to the world’s maximum in the Amur region. Variant *17 shows a pronounced longitudinal trend with the oppositely directed vector of frequency decrease from west to southeast. The correlation maps indicate regions, where the similarity between core patterns is disrupted.

Na Vostochnom Kavkaze prozhivayut bolee 30 narodov, govoryashchih na kavkazskih, iranskih i tyurkskih yazykah. Sliyanie mnogih migracionnyh potokov i slozhnaya populyacionnaya struktura Vostochnogo Kavkaza zatrudnyayut analiz ego genofonda: iz vsekh regionov Kavkaza on naimenee izuchen. Cel' raboty — vyyavit' osnovnye zakonomernosti v izmenchivosti autosomnyh genofondov etogo regiona. Po obshirnym panelyam SNP-markerov izucheno 356 genomov 29 etnosov: 243 genoma 22 narodov Vostochnogo Kavkaza i 113 genomov 7 narodov okruzhayushchih regionov. Bioinformaticheskij analiz proveden metodami predkovyh komponent ADMIXTURE i glavnyh komponent izmenchivosti genofonda (RSA). Vydvinuta gipoteza trekh osnovnyh plastov genofonda Vostochnogo Kavkaza, vzaimodejstvie kotoryh formiruet ego strukturu. «Dagestanskij» plast neset informaciyu o genofonde drevnego avtohtonnogo naseleniya Severnogo Kavkaza. «Iranskij» plast otrazhaet nasledie drevnih i srednevekovyh voln migracij iranoyazychnogo naseleniya: on sostavlyaet tri chetverti genofonda sovremennogo Azerbajdzhana i okolo treti genofonda narodov Dagestana. «Stepnoj» plast fiksiruet slaboe vliyanie evrazijskoj stepi. Vzaimodejstvie trekh geneticheskih plastov lish' kosvenno svyazano s yazykovoj prinadlezhnost'yu narodov, no u kavkazoyazychnyh narodov svyaz' s lingvistikoj proyavlyaetsya yarche. Vyyavleny chetyre geneticheski svoeobraznye gruppy korennogo naseleniya Vostochnogo Kavkaza, kompleks kotoryh dolzhen vklyuchat'sya v harakteristiku ego autosomnogo genofonda: 1) dargincy, lakcy; 2) avarcy, lezginy, tabasarany, aguly, rutul'cy, cahury; 3) kumyki, taty i azerbajdzhancy Dagestana; 4) azerbajdzhancy i talyshi Azerbajdzhana. Opredeleny napravleniya dal'nejshih issledovanij.

Significant differences between the gene pools of Russian peoples require the development of ethno- regional adapted pharmacogenetic tests and the identification of priority regions for their implementation. Aim. To develop a genogeographic technology to identify selection effects using the example of biomarkers that are significant for pharmacotherapy of patients with cardiovascular diseases (CVD), using a population biobank and the Pharmacogenetics of Populations of Russia and Adjacent Countries database. Material and methods . Deoxyribonucleic acid (DNA) samples from the Biobank of Northern Eurasia from 20 metapopulations of the indigenous population of the European Russia were studied using two following data sets: 24 pharmacogenetic markers of CVDs (3170 samples); 1 276 191 polymorphic DNA markers of the autosomal genome (1293 samples). For each data set, estimates of interpopulation variability in the gene pool are provided — the difference between these estimates characterizes the selection pressure on each of the 24 CVD biomarkers. A genogeographic atlas has been created, the maps of which demonstrate the selection pressure on each biomarker according to the degree of deviation from the selective- neutral variability of the gene pool. Results. Twenty-four CVD biomarkers are divided into three following classes: those close to selective- neutral variability, those subject to stabilizing and differentiating selection. For each of the 24 CVD biomarkers, genogeographic maps were created that reveal selection effects in each of the 20 metapopulations. Most maps have identified populations that are under differential selection pressure and therefore a priority for the implementation of ethno- regionally adapted pharmacogenetic protocols. Conclusion. Pharmacogenetic markers and populations under differential selection require the development of ethno- regionally adapted pharmacogenetic tests. The created cartographic atlas of selection can serve as the basis for pharmacogenetic studies carried out using genogeographic methods.

Eastern Caucasus is home to more than 30 peoples speaking Caucasian, Iranian and Turkic languages. Fusion of multiple migration flows together with the complex population structure of the Eastern Caucasus make it more difficult to analyze its gene pool: this is the most poorly studied one among all regions of the Caucasus. The study is aimed to identify the main patterns of the autosomal gene pool variation in this region. A total of 356 genomes of 29 ethnic groups were studied using the large panels of SNP markers: 243 genomes of 22 peoples of the Eastern Caucasus and 113 genomes of 7 peoples living in adjacent regions. The bioinformatics analysis involved the use of the ADMIXTURE ancestral component method and the gene pool variability principal component analysis (РСА). The hypothesis of three genetic strata, the interaction of which forms the structure of gene pool of the Eastern Caucasus, was put forward. The “Dagestan” stratum carries information about the gene pool of the ancient autochthonous population of the Eastern Caucasus. The “Iranian” stratum represents the legacy of ancient and middle-aged migrations surges of the Iranian-speaking population: it constitutes three quarters of the gene pool of modern Azerbaijan and about one third of the Dagestan peoples' gene pool. The “Steppe” stratum represents a negligible influence of the Eurasian steppe. Interaction of three genetic strata is only indirectly related to the peoples' linguistic affiliation, however, the association with linguistics is more obvious in the Caucasian-speaking peoples. Four genetically distinct groups of indigenous population of the Eastern Caucasus have been identified, the combination of which should be included in the characteristics of its autosomal gene pool: 1) Dargins, Laks; 2) Avars, Lezghins, Tabasarans, Aghuls, Rutul people, Tsakhur people; 3) Kumyks, Tat people and Azerbaijanis living in Dagestan; 4) Azerbaijanis and Talysh living in Azerbaijan. The directions of further research have been defined.

Currently available genetic tools effectively distinguish between different continental origins. However, North Eurasia, which constitutes one-third of the world’s largest continent, remains severely underrepresented. The dataset used in this study represents 266 populations from 12 North Eurasian countries, including most of the ethnic diversity across Russia’s vast territory. A total of 1,883 samples were genotyped using the Illumina Infinium Omni5Exome-4 v1.3 BeadChip. Three principal components were computed for the entire dataset using three iterations for outlier removal. It allowed the merging of 266 populations into larger groups while maintaining intragroup homogeneity, so 29 ethnic geographic groups were formed that were genetically distinguishable enough to trace individual ancestry. Several feature selection methods, including the random forest algorithm, were tested to estimate the number of genetic markers needed to differentiate between the groups; 5,229 ancestry-informative SNPs were selected. We tested various classifiers supporting multiple classes and output values for each class that could be interpreted as probabilities. The logistic regression was chosen as the best mathematical model for predicting ancestral populations. The machine learning algorithm for inferring an ancestral ethnic geographic group was implemented in the original software “Homeland” fitted with the interface module, the prediction module, and the cartographic module. Examples of geographic maps showing the likelihood of geographic ancestry for individuals from different regions of North Eurasia are provided. Validating methods show that the highest number of ethnic geographic group predictions with almost absolute accuracy and sensitivity was observed for South and Central Siberia, Far East, and Kamchatka. The total accuracy of prediction of one of 29 ethnic geographic groups reached 71%. The proposed method can be employed to predict ancestries from the populations of Russia and its neighbor states. It can be used for the needs of forensic science and genetic genealogy.

Aktual'nost' problemy geneticheskogo vklada doslavyanskogo naseleniya v genofond russkih populyacij i geneticheskogo sleda vtorzheniya Zolotoj ordy so vremenem lish' vozrastaet. Vklyuchenie v arsenal polnogenomnyh dannyh o shirokom kruge populyacij pozvolyaet iskat' naibolee korrektnye resheniya etoj problemy. Cel'yu raboty byl poisk sledov vzaimodejstviya genofondov finnoyazychnyh, slavyanskih i tyurkoyazychnyh narodov Central'noj Rossii i Povolzh'ya i ih otrazheniya v farmakogeneticheskom landshafte po dannym o 248 genomah predstavitelej 47 populyacij 9 etnosov s pomoshch'yu modelirovaniya i kartografirovaniya predkovyh komponent ADMIXTURE. Vyyavleny specifichnye komponenty dlya kazhdogo iz finnoyazychnyh narodov, no lish' predkovye komponenty mordvy rasprostraneny vo vsekh populyaciyah regiona nezavisimo ot ih yazykovoj prinadlezhnosti. Genofondy russkih populyacij vklyuchayut 80% sobstvennoj komponenty, 19% vklada finnoyazychnyh narodov, 1% central'noaziatskogo vliyaniya. Genofond tatar yavlyaetsya kombinaciej vsekh vyyavlennyh predkovyh komponent, vklyuchaya 81% vklada finnoyazychnyh narodov i lish' 12% central'noaziatskogo vklada, chto zatrudnyaet ocenku ih vliyaniya na russkij genofond. Karta geneticheskih rasstoyanij ot russkih Ryazanskoj oblasti po paneli 42 farmakogeneticheskih markerov vyyavila landshaft, rezko otlichnyj ot selektivno-nejtral'nogo landshafta predkovyh komponent. Naibolee blizki po farmakogeneticheskomu statusu k ryazanskim russkim populyacii Mordovii, Kaluzhskoj, Smolenskoj i Kostromskoj oblastej. Skhozhie po selektivno-nejtral'nym genomam ryazanskie i nizhegorodskie populyacii rezko razlichayutsya po farmakogeneticheskomu statusu. Eto podtverzhdaet neobhodimost' pricel'no issledovat' farmakogeneticheskie osobennosti populyacij Rossii.

Introduction. The question of whether the Alans left a genetic heritage in the modern population of the North Caucasus, and if they did, which populations carry it in their gene pool, is not only a problem of basic science, but also an acute issue of public discussion. Population genetics can test the hypothesis of preserving the contribution of the thousand-year history of the Alanian tribes to the gene pools of the modern peoples of the Caucasus. Materials and methods. The genomes of 207 individuals (on a panel of 4.5 million markers) were studied: Abkhazians, Adyghes, Balkarians, Georgians, Dargins, Ingush, Kabardians, Kuban Cossacks, Karachays, Nogais (Astrakhan, Kuban, Stavropol), Laks, Southern Russians, Tabasarans, Farsi-speaking populations of Dagestan, Circassians, Chechens, Yaghnobis. The contribution of ancestral components to each of 207 genomes was modeled using the ADMIXTURE method. 140 independent ADMIXTURE models were created, the optimal model with K=11 ancestral components is analyzed and mapped. Results and discussion. A single ancestral component was not found in the gene pools of the peoples in the area of the "metropolis" of the Alans: of the eleven ancestral components, the greatest contribution to the genomes of the alleged "heirs" of the Alans was made by four, which are connected like a puzzle on the periphery of the areas. "Ossetian" and "Nakh" make the greatest contribution to the genomes of Ossetians, Ingush and Chechens, with a significant contribution to the genomes of other peoples of the North Caucasus. The gene pool of the Balkars appears to be complex – with the largest contribution of the "Abkhaz-Adyghe" and with a small contribution of the "Ossetian" and "Nakh" ancestral components. The Karachay gene pool is dominated by its own "Karachai-Nogai" component. An analysis of the structure of the Ossetian gene pool showed that the contribution of the "Ossetian" ancestral component is higher in the southern societies of Ossetians, and some Ossetian societies could have retained the Alan trace to a greater extent. Conclusion. The hypothesis of the presence of a common Alanian heritage in the gene pools of modern peoples living in the area of the Alanian “metropolis” has not been confirmed. If we assume that both ancestral components – "Ossetian" and "Nakh" – reflect the genetic heritage of the Alans, then we will have to admit a set of unlikely events. To solve the problem, it is necessary to analyze ancient DNA from different parts of the Alanian area from different chronological sections. The pharmacogenetic landscape differs from the pattern found throughout the genome. Therefore, a thorough analysis of the pharmacogenetic profile of populations is necessary for the transition to personalized medicine.

The introduction of pharmacogenetic tests among the Russian population faces a fundamental limitation — pronounced genetic differences between populations. The genetic geography of pharmacogenetic markers of deoxyribonucleic acid (DNA) helps to remove these limitations. Aim . To reveal the spatial variation of the gene pools of the indigenous European Russian population in terms of DNA markers that are significant for the pharmacotherapy of cardiovascular diseases (CVDs) using the population biobank collections. Material and methods . A total of 3170 samples from 61 populations of the Biobank of Northern Eurasia, which represents the gene pools of the indigenous Eastern Europe population, were studied using two pharmacogenetic DNA marker arrays as follows: 60 most significant markers and 24 markers associated with CVDs. Using the multivariate statistics and genetic geography, a comparison of gene pool variation was made. Results . A cartographic atlas has been created that includes maps of the distribution among the Eastern Europe population of 24 pharmacogenetic CVD markers. These cartographic models allow various specialists to analyze patterns in the distribution of pharmacogenetic markers. General patterns are supplemented by regional studies in the North Caucasus, the Cisurals and the Russian Plain, which identify population groups with similar pharmacogenetic status. For each region, a comparison of gene pool variation for two arrays of above-mentioned DNA markers was made. Conclusion . The created atlas is the basis for the development of pharmacogenetic studies conducted by genetic geography methods using a single panel of markers and representative samples provided by population biobanks. The reliability of the results is ensured by a detailed genealogical and population annotation of each biobank sample and representative samples from the populations.

Genetic contribution of pre-Slavic populations to gene pools of modern Russia is increasingly relevant, along with genetic footprints of the Golden Horde invasion. The novel genome-wide approaches enable advanced solutions in this field. The study aimed at searching for the footprints of genetic interaction among Finnicspeaking, Slavic and Turkic-speaking populations of Central Russia and Volga Region and their reflection in pharmacogenetic landscape. Modeling ancestral components by ADMIXTURE software and their mapping involved genome-wide genotyping data for 248 individual genomes representing 47 populations of 9 ethnic groups. Of specific ancestral components identified in each of the Finnic-speaking peoples, only Mordovian ancestral components are common for all populations within the studied geographic area, regardless of their linguistic affiliation. Gene pools of Russian populations include 80% of intrinsic component, 19% contribution from Finnic-speaking peoples, and 1% of Central Asian influence. The Tatar gene pool combines all identified ancestral components, including 81% contribution from Finnic-speaking peoples and only 12% of Central Asian influence, which prevents using it as a reference for the assessment of Golden Horde footprints in Russian gene pools. A map of genetic distances from Ryazan Russians based on a panel of 42 pharmacogenetic markers reveals a landscape strikingly independent from the selectively neutral ancestral genomic patterns. For instance, populations of Mordovia, Kaluga, Smolensk, and Kostroma regions are the closest to Ryazan Russians in pharmacogenetic status, whereas populations of Ryazan and Nizhny Novgorod regions have strikingly divergent pharmacogenetic status despite the similarity of the selectively neutral ancestral genomic patterns. These findings confirm the relevance of targeted pharmacogenetic characterization for gene pools of Russia.

The correlation between the risk of death from COVID-19 and the patient's ethnogeographic origin has been previously detected. LZTFL1 gene was identified as a potential marker of a two times higher risk of severe COVID-19. The study was aimed to assess spatial variation in the LZTFL1 SNP markers in indigenous populations of Russia and the world. Spatial variation in the LZTFL1 polymorphic markers was analyzed in 28 metapopulations (97 ethnic groups) of North Eurasia (n = 1980) and 34 world's metapopulations (n = 3637) by bioinformatics, statistical and cartographic methods. In North Eurasia, the major geographic variation vectors, North–South and West–East, are generally in line with the Caucasoid–Mongoloid anthropological vector. Global variation also corresponds to anthropological features: each cluster of indigenous populations includes only those from the place where it originates: Africa, Asia, or America. Indo-European cluster integrates Caucasoid populations of Europe and Asia. All four clusters of the world's indigenous population are separated from each other. The huge genetic diversity of Russia peoples and neighboring countries forms a bridge between three continents: Europe, Asia and America. Cartographic atlas for spatial variation in 11 LZTFL1 markers in the populations has been created. The following major patterns have been revealed: а) the world's extrema fall on the indigenous populations of Africa and America; 2) Eurasia constitutes a transition zone between these two extrema, but has its own patterns and shows enormous scale of variation shows enormous variation on a global scale; 3) the genetic landscape of Russia tends to be seamlessly integrated into the Eurasian landscape.

Ranee byla obnaruzhena korrelyaciya mezhdu riskom smerti ot COVID-19 i etnogeograficheskim proiskhozhdeniem pacienta. Gen LZTFL1 otmechaetsya kak potencial'nyj marker, associirovannyj s dvuhkratnym uvelicheniem riska tyazhelogo techeniya COVID-19. Cel'yu issledovaniya bylo izuchit' prostranstvennuyu izmenchivost' SNP-markerov gena LZTFL1 v korennom naselenii Rossii i mira. Bioinformaticheskimi, statisticheskimi i kartograficheskimi metodami byl proveden analiz prostranstvennoj izmenchivosti polimorfnyh markerov gena LZTFL1 v 28 metapopulyaciyah (97 etnosov) Severnoj Evrazii (n = 1980) i 34 metapopulyaciyah mira (n = 3637). V Severnoj Evrazii osnovnye geograficheskie vektory izmenchivosti «sever–yug» i «zapad–vostok» v celom soglasuyutsya s antropologicheskim vektorom «evropeoidnost'–mongoloidnost'». Global'naya izmenchivost' tozhe sootvetstvuet antropologii: kazhdyj klaster korennogo naseleniya vklyuchaet populyacii tol'ko «svoej» chasti sveta — Afriki, Azii ili Ameriki. «Indoevropejskij» klaster ob"edinyaet evropeoidnye populyacii Evropy i Azii. Vse chetyre klastera korennogo naseleniya mira otdaleny drug ot druga, i tol'ko ogromnoe geneticheskoe raznoobrazie narodov Rossii i sopredel'nyh stran yavlyaetsya mostom, svyazuyushchim tri chasti sveta: Evropu, Aziyu i Ameriku. Sozdan kartograficheskij atlas prostranstvennoj izmenchivosti 11 SNP-markerov LZTFL1 v populyaciyah. Vyyavleny osnovnye zakonomernosti: a) mirovye ekstremumy prihodyatsya na korennoe naselenie Afriki i Ameriki; 2) Severnaya Evraziya yavlyaetsya perekhodnoj zonoj mezhdu mirovymi ekstremumami, no obladaet sobstvennymi zakonomernostyami i ogromnym razmahom izmenchivosti v mirovom masshtabe; 3) geneticheskij landshaft Rossii, kak pravilo, organichno vpisan v Evrazijskij landshaft.

Due to the low specificity and sensitivity of non-invasive clinical tests trehalose malabsorption remained out of sight of gastroenterologists. Therefore, the specialists regard this disorder as rare. Trehalose became widely used in the food industry as a harmless sucrose substitute, sweetener and stabilizer. After the discovery of the trehalase gene (rs2276064 TREH), it was found that the A*TREH allele is the determinant of the disaccharide absorption disorders, and the allele's carriership may be high in some groups. There is not enough information on the A*TREH frequency in the population of Russia. The aim of the study was to analyze the allele and genotype frequencies of the trehalase gene (rs2276064 TREH) in the main population groups of the Russian Federation and neighboring countries. Methods. DNA samples from 1146 unrelated subjects belonging to 21 population groups of Russia, Azerbaijan, Tajikistan and Mongolia were genotyped by the two following methods: 1) using the Infinium iSelect HD Custom Genotyping BeadChip (Illumina, USA) on the iScan platform; 2) by the real time polymer-chain reaction (PCR) method on the Bio-Rad CFX96 Touch amplifier. Results. It has been found that on the territory of the Russian Federation the frequency of the A*TREH allele increases from the west to the east. The frequencies are lowest in the groups of Russians and Finns of the Northwest (0.01-0.03), up to 0.07 in the populations of Central Russia and the Volga region, and even higher toward the Southern Urals (Bashkirs 0.15), in the Transurals and Southern Siberia (0.19 in the Altai people, 0.30 in the Tuvinians and Mongols). Up to 1% of the population of the European part of the Russian Federation have the AA*TREH genotype (i.e. trehalose intolerance in phenotype), and up to 15% (GA*TREH genotype) have a reduced ability to absorb the disaccharide. In the Asian part of the country (Siberia, Altai, Baikal) the genotypes carriers constitute up to 12 and 46% respectively. Conclusion. Trehalose malabsorbtion is an underappreciated problem of particular practical importance for regions with high concentrations of indigenous population (Yakutia-Sakha, Buryatia, Tyva, etc.). It would be feasible to consider food labelling of trehalose.