Bashkir Population Research Articles

A Splice Site Variant of CDK12 and Breast Cancer in Three Eurasian Populations.

CDK12 is a member of the cyclin-dependent kinase family that acts as regulator of DNA damage response gene expression. A c.1047-2A>G splice site variant of the CDK12 gene was recently reported to strongly associate with hereditary breast and ovarian cancer in patients of Tatar ethnic origin. To gain more insight into the potential risk and the population spread of the c.1047-2A>G variant, we have genotyped three breast cancer case-control series of Tatar, Bashkir and Kazakh ethnicity. We identified c.1047-2A>G in 6/155 cases and 12/362 controls of Tatar ancestry, 0/96 cases and 9/189 controls of Bashkir ancestry, and 1/131 cases and 0/154 controls of Kazakh ancestry (Mantel-Haenszel odds ratio 0.72, 95% CI 0.30–1.70, p = 0.45). Consistent with the absence of a large effect, bioinformatic analyses predicted that c.1047-2A>G modulates alternative splicing of a NAGNAG sequence rather than constituting a loss-of-function allele, and RT-PCR analyses of c.1047-2A>G heterozygous lymphocytes verified the usage of the predicted alternative acceptor site. Our study confirms a high prevalence of CDK12*c.1047-2A>G in the Tatar and Bashkir population but excludes a role as a clinically actionable high-risk breast cancer mutation.

Судебные полномочия и функции военных и гражданских губернаторов Оренбургской губернии в конце XVIII — первой трети XIX веков

The article is devoted to the analysis of judicial functions of military and civil governors of Orenburg governorate in the late 18 th - first third of 19 th century. The novelty of the research is determined by the introduction of new materials of record-keeping into scientific usage, which characterize the judicial practice of Orenburg military and civil governors. The author paid special attention to the problem of legislative differentiation of judicial powers of military and civil governors of the Orenburg governorate, which was completed by the early 1820s. It is shown that the model of the judicial system, which developed in the Orenburg governorate in the late 18 th - first third of 19 th century, had a number of features associated with the presence of the power of military and civil governors, as well as a significant proportion of the indigenous non-Russian population. Particular attention is paid to solving court cases against the Bashkir and Mishar population, which were associated with service orders, criminal offenses committed during the service, abuse of officials. It is shown that the military and civil governors could not change the decisions of the judicial bodies of the governorate. The author comes to the conclusion that judicial functions occupied a significant place in the activities of the supreme administration of the region and provided for a sufficiently effective implementation of the legislation of Catherine II and Alexander I.

POLYGYNY AMONG BASHKIRS AS ETHNOSOCIAL EVENT IN THE PAST AND PRESENT

Basing on the analysis of archival documents, field ethnographic sources, government documents, press materials of the post-revolutionary period and literary sources, the author of the article considers the actual phenomenon of the past and the present - polygyny. The object of the investigation is the development of this phenomenon among the Bashkirs in the historical perspective. It is shown that polygyny among the Bashkirs was the way to solve social problems related to providing future generations, survival during the years of poverty and hunger, demographic imbalance as a result of numerous wars rather than the indicator of prosperity and status of the man. It was most often practiced among semi-nomadic Bashkirs in undivided families. According to statistics, polygyny among the Bashkirs in the 18th - 19th centuries did not significantly influence the growth of the Bashkir population. In the post-revolutionary years, when the Soviet state began the struggle against the “survivals of times past”, the Bashkir women themselves appealed to the government structures with the request to let them continue their previous life as they had no place to go, bridewealth had been paid for them, and the religious rite nikah had been conducted. Men-polygamists officially completed a divorce, but continued to live with several wives. Among polygamists there were party officials. They were expelled from the party, but the custom was preserved, especially in the areas of traditional existence of polygyny (Zilairsky, Tamyan-Kataisky, Mesyagutovsky and Argayashsky cantons of the Bashkir Republic). Polygyny became widespread after the Great Patriotic War due to gender disproportion. Most contemporaries do not disapprove polygyny, some appeal to legalize this custom, justifying it by the need to solve demographic problems. Nowadays polygyny is common among urban Bashkirs.

The Frequency of CCR5del32 Mutation in Populations of Russians, Tatars and Bashkirs of Chelyabinsk Region, Russia.

The distribution of genetic variants associated with natural resistance to viral infections can vary among human ethnic groups due to evolutionary factors, defining the different epidemiologic background of world populations. The polymorphisms, defining the natural resistance to HIV-infection and the rate of progression up to AIDS, are very important since epidemic is still on rise. We have studied the distribution of allele and genotype frequencies of CCR5delta32 mutation in major populations inhabiting Chelyabinsk region of the Russian Federation. Genetic survey included the population of 509 potential blood marrow donors: Russians (N=300), Bashkirs (N=118) and Tatars (N=91). The genotyping assay was performed using real-time polymerase chain reaction (real-time PCR). The genotypes were defined by melting curve analysis. The CCR5delta32 allele and CCR5delta32/delta32 genotype are presented in population of Russians in Chelyabinsk region with the frequencies of F x =10.83% and P x =1.67, for the CCR5delta32 allele and its homozygosity, respectively. In populations of Bashkirs and Tatars CCR5delta32 allele and CCR5delta32/delta32 genotype are presented at lower frequencies of F x =6.36%/P x =0.85 and F x =7.14%/P x =1.10, respectively. These data are consistent with the theory of northern origin of the CCR5delta32 mutation.

CYP2D6, CYP3A5, and CYP3A4 gene polymorphisms in Russian, Tatar, and Bashkir populations

The allele and genotype frequency distribution at polymorphic loci rs3892097 (184G>A) of CYP2D6 gene, rs776746 (6986A>G) of the CYP3A5 gene and rs2740574 (-392A>G) of the CYP3A4 gene in Russians, Tatars, and Bashkirs was examined. Samples were taken from residents of Bashkortostan Republic (1240 men and women aged from 20 to 109 years and consisted of 443 Russians, 517 Tatars, and 280 Bashkirs). Allele identification was conducted using PCR-RFLP or PCR with TaqMan probes. The "nonfunctional" allele rs3892097*A of the CYP2D6 gene was detected in populations of Russians, Tatars, and Bashkirs in 17.2, 9.5, and 7.1% cases, respectively. The rs776746*G allele of the CYP3A5 gene encoding the CYP3A5 isoenzyme with decreased activity was revealed with a frequency of 94.6% in populations of Russians, 94.3% in the Tatar population, and 91.5% in the Bashkir population. The share of the minor allele rs2740574*G of the CYP3A4 was 4.0% in populations of Russians, 0.5% in the Tatar population, and 0.9% in the Bashkir population. It has been previously shown that the rs3892097*A, rs776746*G, and rs2740574*G allele frequencies vary significantly in different world populations. Since allele variants of CYP2D6, CYP3A5, and CYP3A4 genes can play essential role in interindividual and in interethnic differences in the metabolism of many therapeutic agents, the obtained results could be used in the prognosis of pharmacotherapy efficacy in populations of Russians, Tatars, and Bashkirs.

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

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

M.S. Kulaev - public health administrator of the Tatar and Bashkir ASSR

Mukhametkhan Sakhipkireevich (Mstislav Aleksandrovich) Kulaev was not only a physician and a talented administrator, but also had broad and progressive views for his time on the ways of developing education in Bashkiria. He believed that it must go through the exposure of the Bashkir population to the Russian culture and through the Russian to the European culture.

Реплики постороннего наблюдателя

SUMMARY: Ilshat Nasyrov, professor of oriental studies, reacts to the discussion of the Tatar–Bashkir controversy during the recent population census of 2010. He disagrees with the interpretation that presents the official Bashkir population policy among the Tatars living in the republic as oppressive (aimed at forcing them to register as Bashkirs in the census questionnaire), while Tatar-identity entrepreneurs are seen as persecuted civic activists. Nasyrov claims that identity politics in these two neighboring republics should be approached in historical perspective. He provides historical arguments disproving the image of an artificially created and culturally inferior Bashkir nation that is instrumentalized by Tatar activists in their efforts to convince Bashkortostan “Tatars” to officially register their Tatar identity. Modern Bashkir identity is a product of ethnic and religious history in a particular region, Nasyrov claims. The number of Bashkirs has drastically declined due to Soviet-era repressions and wars. Bashkir national mobilization during the recent population censuses represents their struggle for their very survival as a nation, while their Tatar opponents promote the project of “Greater Tatarstan.”

Ethnic differences in the serotonin transporter polymorphism (5-HTTLPR) in several European populations

The serotonin transporter (5-HTT) is a protein that has a major role in divergent psychiatric disorders, personality traits and behaviors, by regulating serotonergic synaptic function. Transcriptional activity of the 5-HTT gene ( 5-HTT or SLC6A4) is modulated by a polymorphic repetitive element (5-HTT gene-linked polymorphic region, 5-HTTLPR), which consists of a 44-base pairs insertion–deletion in the promoter region, creating a short ( S) allele and a long ( L) allele. Ethnic differences in the allele frequencies of the 5-HTTLPR exist between Caucasian and Asian populations. This study investigated ethnic differences in 5-HTTLPR in 1804 healthy Caucasian subjects from several European populations living in Croatia and the Russian Federation. The genotype and allele frequency of the 5-HTTLPR differed significantly ( P < 0.001) between male and female Croats, Russians, Tatars and Bashkirs, due to the lower frequency of the S allele (38% and 37%) and S/S genotype (14% and 15%) in Croat men and women compared to other studied groups. When male and female data were collapsed, Russians had marginally different allele and genotype distribution compared to Bashkirs and Tatars. Bashkirs and Tatars had similar allele and genotype frequency. The higher frequency of the S/S genotype was found in Tatars and Bashkirs compared to Croats and Russians. Gender related differences occurred only in the allele distribution within Bashkir population. These ethnic differences might be responsible for the inconsistent findings in the studies of the association between various psychiatric disorders, personality traits, behaviors and 5-HTTLPR across different ethnicities, and should be controlled to enable the generalization of results across various population groups.

Polymorphism of locus COI-COII of mitochondrial DNA in the honeybee Apis mellifera L. from southern Ural region

In spite of high biodiversity within the honeybee species Apis mellifera L., only one geographical race, the dark-colored forest honeybee A. m. mellifera, is uniquely adapted to severe environmental conditions of Eurasian forest and forest-steppe zones. Within the vast range of this race, only single isolates remain, where the dark forest honeybee is purebred. The Bashkir population is supposed to be one of these isolates. Molecular-genetic assessment of the state of the gene pool of this population revealed that southern honeybee races were introduced into the Bashkortostan Republic with great intensity, which was above the assimilation capacity of the population. The main part of the former range of the Bashkir population represents a hybrid zone with approximately equal ratio between gene pools of local and introduced honeybees. Our studies provide the possibility to single out one extant reserve of A. m. mellifera, Burzyanskii raion, in which the proportion of local bees in the gene pool is 0.98.

Polymorphism of trinucleotide repeats in loci DM, DRPLA and SCA1 in East European populations.

A normal polymorphism at three triplet repeat loci (myotonic dystrophy (DM), dentatorubral-pallidoluysian atrophy (DRPLA) and spinocerebellar ataxia type 1 (SCA1)) were examined in healthy unrelated individuals from the Siberian Yakut (Mongoloid) population, the Adygei (Caucasian) population and nine East European populations: populations from Russia (Holmogory, Oshevensk, Kursk, Novgorod, Udmurts, Bashkir), two Ukrainian populations (Lviv and Alchevsk) and one Belarussian. The distribution of alleles for DRPLA and SCA1 were similar for all East-European populations. For the DM locus, East European populations had typical allele distribution profiles with two modes, (CTG)5 and (CTG)11-14, but some differences were found for the Bashkir population where alleles containing 11-14 CTG repeats had relatively higher frequency. The Yakut population had different allele spectra for all types of repeats studied. Higher heterozygosity levels and insignificant differences between expected and observed heterozygosity were found for all tested loci. The latter led us to suggest that the trinucleotide repeat loci analysed are not influenced by selection factors and could be useful for genetic relationship investigations in different populations.

Polymorphism of Hypervariable Segment I of Mitochondrial DNA in Three Ethnic Populations from the Volga–Ural Region

A population genetic study of the polymorphism in the first hypervariable segment (HVSI) of mitochondrial DNA control region was carried out for three ethnic populations of the Volga–Ural region, Bashkirs, Russians, and Komi-Permyaks. This analysis showed that most of the mtDNA HVSI haplotypes detected in the populations of Bashkirs, Russians and Komi-Permyaks contained the combinations of nucleotide substitutions detected earlier in European, and, to a lesser extent, Asian. These findings are consistent with historical, anthropological, and ethnographical data suggesting the presence of European and Mongoloid components of different geographical descent in the gene pool of the contemporary population of the Volga–Ural region. The data on the genetic structure and the phylogenetic relationships between populations of the Volga– Ural region based on modern molecular genetic methods of mitochondrial genome investigation would be a substantial addition to the already existing information for some other regions of Europe and Asia. These data would provide more complete examination of the development of interethnic diversity of mitochondrial gene pools of contemporary ethnic populations with the purpose of reconstructing the genetic demographic processes that accompanied peopling of the Middle Ural and Volga region.

Polymorphism of Y-Chromosomal Diallelic Loci in Populations of the Volga–Ural Region

Three diallelic polymorphisms of human Y chromosome (DYS287(Y Alupolymorphism, YAP), T/C transition at the RBF5locus (Tat), and G/A transition at the LLY22locus) were studied in eight ethnic populations of the Volga–Ural region, representing Turkic branch of the Altai (Bashkirs, Tatars, and Chuvashes) and Finno-Ugric branch of the Uralic linguistic family (Maris, Mordovians, Udmurts, Komi-Zyryans, and Komi-Permyaks), and in the group of Slavic migrants, belonging to the Indo-European linguistic family (Russians). The Volga–Ural populations were characterized by a low frequency of the Y chromosome Aluinsertion. Examination of an association between the Alupolymorphism and Tatmutation revealed absolute YAP–/C linkage. Analysis of the haplotype frequency distribution patterns constructed from the data on the DYS287and RBF5polymorphisms revealed substantial differences between Udmurts and other populations. The differences were also observed between Komi-Zyryans and the populations of Bashkirs, Mordovians, Komi-Permyaks, and Russians. Analysis of the degree of genetic differentiation pointed to high level of genetic differentiation of the male lineages of the Finno–Ugric ethnic groups. The data on the linkage between the RBF5locus and the LLY22locus mutations indicated the common origin of the Tatmutationin Bashkirs, Mordovians, Udmurts, and Komi-Zyryans, and of a number of ancestralCallele-bearing Y chromosomes in Tatars, Maris, and Chuvashes.