The study of the geographic distribution of the allelic variant of the OAS1 gene associated with severe form of the infections caused by RNA viruses was carried out using the rs10774671 polymorphic locus. The mutant allele encoding the p42 protein isoform was most prevalent in the Russian populations. A comparative analysis of the prevalence of the mutant allele in world populations showed that its frequency is 0.9 among the inhabitants of Northern Eurasia, while the allele encoding the p46 protein isoform is widespread among the population of West Central Africa. A cartographic analysis of the relationship between the population—frequency characteristics of the marker alleles and the geographical remoteness of the populations showed that the mutant allele is most often observed in the indigenous populations of the Far East, which suggests its East Asian origin.
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.
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.
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.
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.
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.
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.
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.
V poslednee desyatiletie poisk i annotaciya associirovannyh s fenotipom genomnyh polimorfizmov cheloveka, a takzhe izuchenie ih populyacionnyh chastot stali osobenno aktual'nymi v svyazi s vozmozhnost'yu ih primeneniya v medicinskoj i populyacionnoj genetike, farmakogenomike i evolyucionnoj biologii. Cel'yu issledovaniya bylo rasschitat' chastotu i proanalizirovat' rasprostranennost' v 28 rossijskih populyaciyah 13 germinal'nyh polimorfizmov dvuh genov — TR53, matricy «hranitelya genoma» belka r53 i gena WRAP53, vliyayushchego na proizvodstvo belka r53. Byli polucheny dannye dlya 9 ekzonnyh variantov gena TR53 (rs587781663, rs17882252, rs150293825, rs112431538, rs149633775, rs144340710, rs1042522, rs1800371, rs201753350), odnogo intronnogo polimorfizma (rs17881850), a takzhe trekh variantov gena WRAP53 (rs17880282, rs2287499, rs34067256). Dlya bol'shinstva populyacij vyborka byla predstavlena chislom bolee 50 chelovek (za isklyucheniem pyati populyacij, v kotoryh bylo obsledovano ot 30 do 49 chelovek). Populyacionnye chastoty al'ternativnyh allelej izuchennyh gennyh variantov v bol'shinstve rossijskih populyacij okazalis' blizki k znacheniyam chastot etih allelej v sootvetstvuyushchej ih proiskhozhdeniyu evropejskoj ili aziatskoj populyacii iz mirovyh baz dannyh. Isklyuchenie sostavili shest' populyacij («Central'nyj Kavkaz», «Dagestan», «severnye russkie», «yugo-vostochnye russkie», «tatary» i «Zakavkaz'e»), v kotoryh populyacionnye chastoty al'ternativnyh allelej dlya bol'shinstva markerov okazalis' povyshennymi. Dlya vsekh vysheperechislennyh populyacij, krome «yugo-vostochnyh russkih», harakterno nesootvetstvie allelej polimorfizmov s povyshennymi chastotami ravnovesiyu Hardi–Vajnberga.
In the last decade the search for and annotation of human genome polymorphisms associated with phenotype have become particularly important concerning the opportunity of their use in medical and population genetics, pharmacogenomics and evolutionary biology. The study was aimed to calculate the frequencies and analyze the prevalence of 13 germline polymorphisms of two genes, ТР53 encoding the genome-keeper p53 protein and WRAP53 involved in regulation of p53 production, in 28 Russian populations. We obtained data on 9 exonic ТР53 variants (rs587781663, rs17882252, rs150293825, rs112431538, rs149633775, rs144340710, rs1042522, rs1800371, rs201753350), one intronic polymorphism (rs17881850), and three variants of WRAP53 (rs17880282, rs2287499, rs34067256). In the majority of populations the sample size was over 50 people (except five populations with 30–49 surveyed people). The alternative alleles’ population frequencies for studies genetic variants in most Russian populations were close to appropriate allele frequencies in European and Asian populations of similar origin taken from global databases. The exceptions were six populations ("Central Caucasus", "Dagestan", "northern Russians", "southeastern Russians", "Tatars" and "Transcaucasia") with increased alternative alleles’ population frequencies. All listed populations except the population of “southeastern Russians” are characterized by polymorphisms with high allele frequencies not satisfying the Hardy–Weinberg principle.
Nekhvatka informatsii o rasprostranennosti v RF farmakogeneticheskikh markerov privodit k nevozmozhnosti vnedreniya algoritmov personalizatsii, razrabotannykh dlya Zapadnoy Yevropy. Tsel'yu raboty bylo sistematicheskoye izucheniye rasprostranennosti ryada znachimykh farmakogeneticheskikh markerov po vsey territorii Rossii. Iz neskol'kikh massivov populyatsionno-geneticheskikh dannykh otobrany 45 markerov (ADME-genov; genov, kodiruyushchikh farmakodinamicheskiye misheni lekarstvennykh sredstv; genov, kodiruyushchikh komponenty sistemy gemostaza), genotipirovannykh summarno dlya 2197 individov. Opredeleny chastoty etikh markerov v 50 populyatsiyakh, vklyuchayushchikh informatsiyu o 137 etnicheskikh i subetnicheskikh gruppakh. V rezul'tate sozdan farmakogeneticheskiy atlas — sistematicheskoye sobraniye genogeograficheskikh kart rasprostranennosti farmakogeneticheskikh DNK markerov po vsey territorii Rossii i sopredel'nykh stran. Atlas vyyavil tri patterna prostranstvennoy izmenchivosti. Pattern klinal'noy izmenchivosti (gradiyentnogo izmeneniya chastot po osi «vostok–zapad») ob"yedinyayet markery, sleduyushchiye osnovnoy zakonomernosti vsego genofonda naseleniya Severnoy Yevrazii (13% kart atlasa). Pattern ravnomernogo raspredeleniya vydelyayet markery, srednyaya chastota kotorykh kharakterna dlya bol'shinstva regionov Rossii (27% kart atlasa). Pattern «ochagovoy» izmenchivosti ob"yedinyayet farmakogeneticheskiye markery, kharakternyye tol'ko dlya opredelennoy gruppy etnosov i otsutstvuyushchiye v drugikh regionakh (60% kart atlasa). Atlas pokazyvayet, chto srednyaya chastota markera i informatsiya o yego vstrechayemosti v otdel'nykh populyatsiyakh ne mogut sluzhit' ukazaniyem na tip yego raspredeleniya v prostranstve RF — dlya vyyavleniya patterna izmenchivosti neobkhodima genogeograficheskaya karta.
The lack of information about the frequency of pharmacogenetic markers in Russia impedes the adoption of personalized treatment algorithms originally developed for West European populations. The aim of this paper was to study the distribution of some clinically significant pharmacogenetic markers across Russia. A total of 45 pharmacogenetic markers were selected from a few population genetic datasets, including ADME, drug target and hemostasis-controlling genes. The total number of donors genotyped for these markers was 2,197. The frequencies of these markers were determined for 50 different populations, comprised of 137 ethnic and subethnic groups. A comprehensive pharmacogenetic atlas was created, i.e. a systematic collection of gene geographic maps of frequency variation for 45 pharmacogenetic DNA markers in Russia and its neighbor states. The maps revealed 3 patterns of geographic variation. Clinal variation (a gradient change in frequency along the East-West axis) is observed in the pharmacogenetic markers that follow the main pattern of variation for North Eurasia (13% of the maps). Uniform distribution singles out a group of markers that occur at average frequency in most Russian regions (27% of the maps). Focal variation is observed in the markers that are specific to a certain group of populations and are absent in other regions (60% of the maps). The atlas reveals that the average frequency of the marker and its frequency in individual populations do not indicate the type of its distribution in Russia: a gene geographic map is needed to uncover the pattern of its variation.
One of the tasks of population-based biobanks is to determine the frequencies of clinically relevant genetic polymorphisms in the population. The population of Russia is very heterogeneous both ethnically and genetically. Therefore, the frequencies of genetic markers are in demand not in one sample, but in a series of samples reflecting the heterogeneity of the gene pool of different peoples and regions. Aim. To divide the population of Russia and neighboring countries into population groups meeting certain conditions, as well as having a representative sample in existing data and biobanks. Material and methods . We developed a method for combining populations into larger groups with maintaining intragroup homogeneity based on the principal components analysis with K-means clustering, followed by refinement of clustering for higher homogeneity and a more equal distribution of group sizes using FST distances. The technology has been adjusted using the example of the Biobank of Northern Eurasia. Therefore, the material was the genome-wide data on 4.5 million genetic markers for 1,883 samples representing 247 populations of Russia and neighboring countries from this biobank. The developed approach, the resulting set of populations and related map can be applied for other collections of biomaterials from Russian populations. Results . Application of this approach made it possible to divide the entire population of Russia and neighboring countries into 29 ethnogeographic groups, characterized by relative genetic homogeneity. This set of populations is recommended as a baseline for population screenings to identify the frequency of any genetic markers among the population of Russia. A map has been constructed showing the division of population into 29 ethnogeographic areas. Conclusion . On the basis of a reliable genome-wide data, the zoning of gene pool of the Russian population was carried out. We identified ethnogeographic groups with intergroup contrasting allele frequencies, but at the same time with relatively homogeneous intragroup parameters. The resulting map and register of groups can be used in population genetic, medical genetic and pharmacogenetic studies.
One of the tasks of population-based biobanks is to determine the frequencies of clinically relevant genetic polymorphisms in the population. The population of Russia is very heterogeneous both ethnically and genetically. Therefore, the frequencies of genetic markers are in demand not in one sample, but in a series of samples reflecting the heterogeneity of the gene pool of different peoples and regions. Aim. To divide the population of Russia and neighboring countries into population groups meeting certain conditions, as well as having a representative sample in existing data and biobanks. Material and methods . We developed a method for combining populations into larger groups with maintaining intragroup homogeneity based on the principal components analysis with K-means clustering, followed by refinement of clustering for higher homogeneity and a more equal distribution of group sizes using FST distances. The technology has been adjusted using the example of the Biobank of Northern Eurasia. Therefore, the material was the genome-wide data on 4.5 million genetic markers for 1,883 samples representing 247 populations of Russia and neighboring countries from this biobank. The developed approach, the resulting set of populations and related map can be applied for other collections of biomaterials from Russian populations. Results . Application of this approach made it possible to divide the entire population of Russia and neighboring countries into 29 ethnogeographic groups, characterized by relative genetic homogeneity. This set of populations is recommended as a baseline for population screenings to identify the frequency of any genetic markers among the population of Russia. A map has been constructed showing the division of population into 29 ethnogeographic areas. Conclusion . On the basis of a reliable genome-wide data, the zoning of gene pool of the Russian population was carried out. We identified ethnogeographic groups with intergroup contrasting allele frequencies, but at the same time with relatively homogeneous intragroup parameters. The resulting map and register of groups can be used in population genetic, medical genetic and pharmacogenetic studies.
Prediction of eye and hair color from DNA is being increasingly employed in forensics and the studies of ancient populations. HIrisPlex-S is a prediction tool trained on the Dutch dataset and verified using a few other European populations. The accuracy of its predictions for other regions of the world has not been studied yet. Russian populations pose a special interest because, unlike the majority of world populations, their representatives can have not only dark but also light color eyes and hair. The aim of this work was to evaluate the accuracy of eye and hair color prediction in Russian populations. We recruited 144 representatives of indigenous peoples of Russia (Avar, Aleut, Buryat, Itelmen, Karelian, Koryak, Mari, Nanai, Russian, Rutulian, Chuvash, Chukchi, Evenk, and Even populations). All study participants were photographed. Eye and hair colors were identified from the anthropological images by anthropologists. The SNP markers included in the HIrisPlex system were genotyped. Phenotypes were predicted from the obtained genotypes and subsequently compared to the actual phenotypes. Quality metrics were calculated for HIrisPlex prediction accuracy in the populations of European Russia and Siberia. On the whole, HIrisPlex prediction accuracy was satisfactory, although a bit lower than in Western European datasets. Further research could focus on identifying additional markers to improve the accuracy of predictions in Russian populations.
Предикция цвета глаз и волос по генотипу становится распространенным инструментом в судебно-медицинской экспертизе и в исследованиях древних популяций. Для этого широко используется панель HIrisPlex-S, разработанная на выборке голландцев и верифицированная для некоторых других популяций Западной Европы. Однако точность ее предсказаний для представителей других регионов мира не изучена. Особый интерес представляют популяции России, в которых (в отличие от большинства других популяций мира) присутствуют не только темные, но и светлые оттенки цвета волос и глаз. Целью работы было определить точность предикции цвета глаз и волос для популяций России. Мы изучили 144 представителя коренного населения России (аварцев, алеутов, бурят, ительменов, карел, коряков, марийцев, нанайцев, русских, рутульцев, чувашей, чукчей, эвенков, эвенов). Для всех индивидов были сделаны антропологические фотографии. На основании фотографий эксперты-антропологи проводили определение цвета глаз и волос. Для тех же индивидов проводили генотипирование SNP-маркеров панели HIrisPlex. На основании генотипов предсказывали фенотипы и предсказанные фенотипы сопоставляли с реальными. Получена серия показателей точности HIrisPlex для популяций Европейской части России и Сибири. В целом точность оказалась удовлетворительной, хотя и несколько сниженной по сравнению с точностью для популяций Западной Европы. В будущих исследованиях возможно провести поиск дополнительных маркеров, повышающих точность предикции для популяций России.