The gene pool of the Koryaks was studied in comparison with other Far Eastern and Siberian peoples using a genome-wide panel of autosomal single-nucleotide polymorphic markers and Y-chromosome markers. The results of analyzing the frequencies of autosomal SNPs using various methods, the similarity in the composition of Y-chromosome haplogroups and YSTR haplotypes indicate that the gene pool of the Koryaks is as close as possible to the Chukchi one and was formed as a result of the unification of several groups whose ancestors had moved from the territory of modern Yakutia and the Amur region. The two dominant Y-chromosome haplogroups of the Koryaks with different sublines of haplotype clusters demonstrate their contacts with the Chukchi, Evens, Yukaghirs, and Eskimos. Analysis of the composition of genetic components and IBD blocks on autosomes indicates the maximum genetic proximity of the Koryaks to the Chukchi. Among the Siberian populations, the Chukchi, Koryaks, and Nivkhs form a cluster separate from the main group of Siberian populations, while the Chukchi and Koryaks are more closely related. Far Eastern populations are divided in full accordance with geographic localization into the northern group (Chukchi and Koryaks) and the southern group, including the Nivkhs and Udege. A more detailed analysis of the component composition of gene pools in some populations reveals components specific to them. The isolation of such components is associated with founder effects and a shift in allele frequencies for these populations. The Koryaks and Chukchi represent one of the most striking examples of long-standing genetic kinship. Their populations demonstrate maximum values of the level of genomic inbreeding FROH > 1.5 (0.0422, 0.0409), which is natural due to their relative isolation.

Objective. To study associations between polymorphic variants of the SLC6A4 gene and depression in people aged 25–44 years old in Novosibirsk. Materials and methods. The study was performed in 2013–2016 and included 403 men (mean age 34 ± 0.4 years, response rate 71

The TRPM8 thermoreceptor gene (rs7593557) was analyzed in 15 population samples living in different regions of Northern Asia, the Altai-Sayan Highlands, and Canada. High frequencies of a rare genotype and allele in the populations of the Altai-Sayan region and Western Siberia were found among the Telengits (22.2 and 41.7

For the senior generations of Moscow and Novosibirsk, no significant differences by the dis-tribution of haplogroups of Y-chromosome (typical for the Russian gene pool [1, 2]) were re-vealed, excluding those by «Southern by origin» haplogroups, penetrating into gene pool by migration, that indicates necessity of development separate reference databases for each meg-alopolis.

Objective : to study the associations between polymorphic variants of the 5-HTTLPR SNP rs25531 A>G gene and sleep disorders in the open population of the able-bodied population aged 25–44 years in Novosibirsk. Material and methods . A representative sample of the population aged 25–44 years in Novosibirsk was surveyed in 2013–2016 (403 men, mean age – 34±0.4 years, response – 71%; 531 women, mean age – 35±0.4 years, response – 72%). The general examination, included in the WHO MONICA-psychosocial (MOPSY) program was carried out according to standard methods. Sleep disturbance was assessed using the Jenkins scale. Three hundred forty nine (349) people who underwent genotyping were selected from the total sample using the method of random numbers generation. Results . In the studied population aged 25–44 years, 42.8% of respondents gave a negative assessment of their sleep, 39.7% of men and 45.3% of women had sleep disorders (χ 2 =11.397; df=4; p<0.05). In 19.6% of men and 21.5% of women, sleep duration was 6 hours per day, 5.7% of men and 4.5% of women reported 5 hours of sleep per day (χ 2 =2.269; df=5; p>0.05). The most common genotype of the 5-HTTLPR SNP rs25531 A>G gene was SL A (43.3%), L A L A (26.4%) was on the second place, SS (17.8%) was on the third place, less represented genotypes in our population were L A L G (6.9%), SL G (4.4%), L G L G (1.4%) genotypes. Among individuals with the SL A genotype more common was 5–6 hour sleep (55.3%) (χ 2 =4.121; df=1; p<0.05) and 8–10 hour sleep (63.5%) (OR=4.863; 95% CI 1.625–14.555; χ 2 =7.625; df=1; p<0.01), among L A L A carriers – 8–10 hour sleep (58.5%) (χ 2 =4.862; df=1; p< 0.05), compared with carriers of the L A L G genotype, among whom 7-hour sleep was more common (73.7%). Conclusion . The effect of the 5-HTTLPR SNP rs25531 A>G gene on serotonin neurotransmission contributes significantly to the etiology of sleep disorders.

The frequency of occurrence of alleles of the IL-17A G197A and IL-17F A7488G genes in 150 people with gastric cancer and 103 healthy people was analyzed. The frequencies of genotypes IL-17F A7488G in patients (AA—68.6, AG—25.3, and GG—6%) did not differ significantly from those in the control (AA—77.7, AG—22.3, and GG—0.0%). Carriers of the GG genotype were found only in patients. There were no significant differences between patients and healthy people (χ2 = 4.80, p < 0.09). The frequencies of genotypes IL-17A G197A in patients (GG—10.6, AG—48.7, and AA—40.7%) differed from the control (GG—11.7, AG—70.8, and AA—17.5%). The distribution of IL-17A genotypes G197A “case–control” showed that the frequency of occurrence of the AA genotype in a sample of patients with gastric cancer is two times higher than in a sample of healthy people. Significant differences between patients and healthy people were revealed (χ2 = 15.79, p < 0.0003). Significant differences were found between sick and healthy women both in IL-17A G197A (χ2 = 16.18, p < 0.0003) and in IL-17F A488G (χ2 = 7.176, p < 0.027). No significant differences were found between the male samples. The results of our studies showed that only the A allele and the AA genotype of the IL-17A G197A gene are significantly more common in patients with gastric cancer than in healthy people, which may be a marker of the risk of developing gastric cancer in people living in the West Siberian region. Haplotypes characteristic only of patients with gastric cancer were identified. One of them (AAGG) is found with the same frequency in both men and women, and the second (AGGG) is most characteristic of women.

The indigenous populations of Siberia are of significant interest for population genomics because of the specificity of their gene pools, which developed in various genetic and demographic conditions. Data on directional selection signals is an important addition to the existing data on the evolution of gene pools and the mechanisms of genetic adaptation of the population of Eurasia. We used genotype array of 1 779 819 SNPs in a group of 477 unrelated subjects, including 20 indigenous populations of Siberia, to search for directional selection signals using a test for extended homozygosity of haplotypes (nSL). The present study detected that all studied populations of Siberia strongly differ from each other in the composition of genes that demonstrate the effect of selection. The largest number of significant signals of natural selection was found in the populations of the Khanty, Koryaks, and Chukchi. The genes ADGRB3 , ANO3 , CDH13 , CUEDC1 , and PCDH15 are distinguished among the genomic loci carrying the most pronounced directional selection signals in the northern populations.

The polymorphism of six nuclear genes, ACE (I/D, rs1799752), NOS3 (4b/4a, rs61722009), ADRA2B (I/D, rs28365031), MTHFR (С677Т, rs1801133), TCF7L2 (rs7903146), and CSK (rs1378942), as well as mitochondrial DNA, was examined in the population of Amur Evenks. It was demonstrated that among Evenks, Eastern Eurasian mtDNA haplogroups with the predominance of two of them, C and D (58%), were the most common. These haplogroups are most typical of the populations of North Asia and Siberia. Among West Eurasian haplogroups, the most common is haplogroup H (15%). The lowest statistically significant differences in mtDNA were found between Evenks, Turks, and Samoyeds, and the largest differences were with Finno-Ugric populations. The observed distribution of frequencies of loci for four genes in the studied population did not differ from the theoretically expected under the Hardy–Weinberg law, with the exception of TCF7L2 and CSK loci. Statistically significant association for gametic disequilibrium was observed between four pairs of genes (ACE and MTHFR, ACE and TCF7L2, NOS3 and CSK, ADRA2B and MTHFR). The distribution of allele associations at six loci was assessed using the maximum likelihood method. The number of associated alleles was calculated for each pseudohaplotype. It was demonstrated that the number of associated alleles proportionally increased with the decrease of pseudohaplotype frequency (R2 = 0.5, R = 0.7, d.f. = 16, P < 0.001). It is suggested that the data obtained are characteristic not only of the studied population and also may reflect such processes as gametic disequilibrium (meiotic drive).

Populations of the indigenous ethnic groups of Northern Eurasia are of considerable interest for population genomics, both because they have been relatively poorly studied with the use of modern genomic technologies and owing to the specificity of their gene pools that developed in various genetic-demographic conditions. We used genotype data on 242 179 autosomal SNPs of 876 individuals to search for regions with runs of homozygosity of more than 1 Mb. For Siberian populations, the number of runs of homozygosity and their total length was higher than for other populations of Northern Eurasia.

The TCF7L2 gene was studied in people with the 1st degree obesity as a molecular genetic marker of obesity. An increased prevalence of the risk allele was found in the study sample compared to the control. It is assumed that the TCF7L2 gene is a risk factor for the development of early disorders of carbohydrate metabolism.

Проведен анализ IL-17A G197A и IL-17FA7488G у 150 человек, больных раком желудка, и 103 здоровых. Изученные группы сопоставимы по полу и возрасту. В контроле распределение генотипа для каждого SNP находится в равновесии Харди - Вайнберга. (р> 0,05). Частоты генотипов IL-17F A7488G у больных (GG 38,7%; GA 39,3% и AA 22%) значительно отличались от таковых в контроле (GG 16,5%; GA 60,2% и AA 23,3%). Генотипы IL-17A197 у больных также отличались от таковых в контроле (АА 40,7%; AG 48,7%; GG 10,6%; АА 17,5%; AG 70,8%; GG, 11.7%, соответственно). Полученные нами данные возможно свидетельствуют, что генотипы GG IL-17F A7488G и АА IL-17A197 связаны с риском развития рака желудка. The analysis of IL-17A G197A and IL-17FA7488G in 150 patients with gastric cancer and 103 healthy. The studied groups are comparable by gender and age. Among the controls, the genotype distribution for each SNP is in Hardy-Weinberg equilibrium. (p> 0.05). The frequencies of IL-17F A7488G genotypes in cases (GG - 38.7%; GA - 39.3% and AA, 22%) significantly differed from those in the control (GG, 16.5%; GA, 60.2% and AA, 23.3%). The genotypes of IL-17A197 in cases also differed from those in the control (AA 40.7%; AG, 48.7%; GG, 10.6% and AA 17.5%; AG, 70.8%; GG, 11.7%, respectively). Our data may indicate that the genotypes GG, IL-17F A7488G and AA, IL-17A197 are associated with a risk of developing gastric cancer.

Genotyping of TRPV1 and TRPA1 genes encoding thermoreceptors in the populations of the Altai-Sayan region and the Far East was conducted. The sample consisted of 15 populations comprising 1482 individuals. The analysis of TRPV1 rs222747 demonstrated that the frequency of M315I was closest to East Asian populations only in Nanais and Koryaks (56 and 64%, respectively). Siberian Tatars, Yakuts, and Evenks were closest to European populations. All populations of the Altai-Sayan region reported an intermediate position between the Caucasoids and the Eastern Mongoloids on the basis of the frequency of M315I. No deviations from the Hardy–Weinberg distribution were observed. The observed heterozygosity exceeded the expected one in eight populations. The analysis of TRPA1 rs13268757 revealed that Chukchi, Yukaghir, Koryak, Tuvinian, Southern Altaian, and Telengit populations were closest to the East Asian populations on the basis of the frequency of R3C substitution (3–7%). At the same time, populations of Siberian Tatars, Nanais, Evenks, Yakuts, Shorians, Khakases, and Kazakhs were intermediate between the Caucasoids (18–23%) and the Mongoloids from East Asia (3–7%) on the basis of the frequency of this polymorphism. A deviation from the Hardy–Weinberg distribution was detected only in the Yukaghir population. The observed heterozygosity was higher than the expected one in nine populations. A trans-association of TRPA1 and TRPV1 gene polymorphisms was carried out in 14 populations via regression analysis. A negative correlation of–0.545 was determined, the number of degrees of freedom ( df ) was 13, and the P -value was 0.048. The data obtained indicate that the analyzed polymorphisms are correlated, which confirms an earlier conclusion of the TRPA1 -dependent inhibition of TRPV1 function. The results may evidence in the co-evolution of analyzed genes.

The analysis of mtDNA polymorphism was carried out in the population of Siberian Tatars from the Barabinsk forest steppe living on the territory of Novosibirsk oblast ( N = 199). As a result of the analysis of HVS I and HVS II nucleotide sequence, 101 haplotypes that refer to 22 mtDNA haplogroups were detected. The population of Baraba Tatars is represented by both East Eurasian (38.7%) and West Eurasian mtDNA lines (61.3%). H, T, U5, and J haplogroups prevail among West Eurasian haplogroups; C, D, G, M, and A haplogroups prevail among East Eurasian ones. According to the index of genetic diversity, Tatars from the Barabinsk forest steppe (0.9141) are the closest to Kazakhs (0.9108), Bashkirs (0.9165), and Tobol-Irtysh Tatars (0.9104). The greatest statistically significant interpopulation differences ( F ST ) were detected between all studied samples; the smallest interpopulation differences were detected between all Tatar samples, as well as between Tatars and Komi, Mansi, Udmurts, Kazakhs, Chuvashes, and Bashkirs. The haplogroup H is the most common in populations that we studied. In the present study, was registered the haplotype 16126–16294 with the frequency of 4% (T cluster) previously found only in Caucasians. High frequency of haplogroups U4, U5, and H in the gene pool of Baraba Tatars brings them together not only with Samoyeds but also with Finno-Ugric populations. The highest intrapopulation genetic diversity was detected in Tatars from the Barabinsk forest steppe, Tobol-Irtysh Tatars, Kazakhs, and Bashkirs. The presence of the haplogroup B in the mitochondrial DNA genetic pool of Siberian Tatars brings them together with Turks that came from regions of Altai and Central Kazakhstan and inhabited the Western Siberian forest steppe in the 6th–9th centuries. The haplogroup U7, which is typical of populations of Jordan, Kuwait, Iran, and Saudi Arabia, could also have entered the territory of residence of Siberian Tatars in the middle of second millennium BC, when Iranian-speaking tribes entered Siberia.

The mtDNA polymorphism in representatives of various archaeological cultures of the Developed Bronze Age, Early Scythian, and Hunnish-Sarmatian periods was analyzed (N = 34). It detected the dominance of Western-Eurasian haplotypes (70.6%) in mtDNA samples from the representatives of the ancient population of the Early Bronze Age–Iron Age on the territory of Altai Mountains. Since the 8th to the 7th centuries BC, a sharp increase was revealed in the Eastern Eurasian haplogroups A, D, C, and Z (43.75%) as compared to previous cultures (16.7%). The presence of haplotype 223-242-290-319 of haplogroup A8 in Dolgans, Itelmens, Evens, Koryaks, and Yakuts indicates the possible long-term presence of its carriers in areas inhabited by these populations. The prevalence of western Eurasian haplotypes is observed not only in the Altai Mountains but also in Central Asia (Kazakhstan) and the south of the Krasnoyarsk Krai. All of the three studied samples from the Western Eurasian haplogroups were revealed to contain U, H, T, and HV. The ubiquitous presence of haplotypes of haplogroup H and some haplogroups of cluster U (U5a1, U4, U2e, and K) in the vast territory from the Yenisei River basin to the Atlantic Ocean may indicate the direction of human settlement, which most likely occurred in the Paleolithic Period from Central Asia.