Papers by Svetlana A. Borinskaya
Ecological genetics
Genetically determined deficiency of the lactase enzyme in adults (primary hypolactasia) is a rec... more Genetically determined deficiency of the lactase enzyme in adults (primary hypolactasia) is a recessive trait. As shown earlier, in some European populations primary hypolactasia is determined by carrying the CC genotype at the single-nucleotide polymorphism (SNP) LCT*С/T-13910. In this work allele and genotype frequencies were estimated for the single-nucleotide polymorphism (SNP) LCT*C/ T-13910 in 7 samples (346 individuals in total), representing Eurasian populations (Saami, Mari, Russians from the Volga-Ural Area, Kazakhs, Uyghurs, Buriats, Arabs). For part of these groups and for some of the earlier studied groups the frequencies of the CC genotype are similar to the epidemiological-clinical data on hypolactasia frequency reported for respective or closely located populations (in Russians, Ukrainians, Byelorussians, Kola Saami, Mari, Komi-Permyaks, Udmurts, Pamir Mountain dwellers, and in Chukchi, Iranians and Arabs). For the Asian populations, the data are contradictory, and e...
Ecological genetics
ADH1B and ALDH2 genes are coding for key alcohol metabolism enzymes. Both allele ADH1B*Arg48His a... more ADH1B and ALDH2 genes are coding for key alcohol metabolism enzymes. Both allele ADH1B*Arg48His and ALDH2*504Lys are associated with lower alcohol consumption level. The allele frequencies were determined for rather few populations of Russia. The article presents аn updated review on the allele frequencies worldwide including the data for populations of Russia which were determined by our lab in recent years. Possible role of factors influencing the peculiarities of ADH1B*48His and ALDH2*504Lys allele frequencies geographic distribution are being discussed.
Russian Journal of Genetics, 2021
Ecological genetics, 2011
The prevalence of APOE gene ε4/ε4 genotype in the populations with various level of “westernizati... more The prevalence of APOE gene ε4/ε4 genotype in the populations with various level of “westernization” is under the consideration. It is proposed that the populations with a high frequency of *ε4 undergoing “modernization transition” are in the most vulnerable state. These are the Eastern Finns and especially indigenous people of the North, who have a higher level of diseases of circulatory system than megacity residents.
Moscow University Anthropology Bulletin (Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia), 2020
Öåëü-ïðîâåñòè îöåíêó ïîëèìîðôèçìà ãåíîâ àäàïòàöèè â àíòðîïîëîãè÷åñêè ðîäñòâåííûõ ïîïóëÿöèÿõ êîìè-... more Öåëü-ïðîâåñòè îöåíêó ïîëèìîðôèçìà ãåíîâ àäàïòàöèè â àíòðîïîëîãè÷åñêè ðîäñòâåííûõ ïîïóëÿöèÿõ êîìè-ïåðìÿêîâ è çûðÿí (êîìè-èaeåìöåâ), îñâîèâøèõ ðàçíûå âàðèàíòû õîçÿéñòâîâàíèÿ.
Acta Naturae, 2009
РеФеРаТ Исследования древней ДНК, извлеченной из музейных образцов, археологических и палеонтолог... more РеФеРаТ Исследования древней ДНК, извлеченной из музейных образцов, археологических и палеонтологических находок, начали развиваться 25 лет назад с определения последовательности нуклеотидов (секвенирования) коротких фрагментов митохондриальной ДНК (мтДНК). Развитие методов экстракции и анализа нуклеиновых кислот позволило перейти к реконструкции полных митохондриальных геномов в древних останках. Это позволило делать заключения не только о самих организмах, вымерших десятки тысяч лет назад, но и об их популяциях и эволюции. Сейчас удается секвенировать участки ядерного генома вымерших организмов (мамонт, неандерталец) и делать заключения об их фенотипических признаках. Исследования древней ДНК стали уникальным инструментом проверки эволюционных гипотез и комплексной реконструкции истории изменений биоты. Особое внимание привлекают исследования ДНК из человеческих останков, позволяющие восстановить историю взаимоотношений различных популяций древних людей. Выявились методические особенности и проблемы, специфичные для работы с древней ДНК. Это сверхмалые количества и фрагментированность ДНК в древних образцах, а также наличие химических модификаций, блокирующих репликацию древней ДНК in vitro, либо приводящих к появлению в ней постмортальных мутаций. Те же особенности и проблемы выявились и при анализе ДНК в ряде особо сложных случаев молекулярно-генетической экспертизы криминалистических образцов (необходимость анализа сверхмалых количеств ДНК, загрязненной ДНК или ДНК, разрушенной химическими или термическими воздействиями), что осложняет или делает невозможным получение экспериментальных данных и/или их интерпретацию. Анализ этих проблем и подходы к их разрешению представлены в данном обзоре. Ключевые слова: древняя ДНК, методы, эволюция, ДНК идентификация, криминалистическая экспертиза. Список сокращений: мтДНК-митохондриальная ДНК, пмтДНК-полная последовательность мтДНК, Str-короткие тандемные повторы.
Genetics, 2019
This article reviews the ideological, political, economic, social, cultural, personal, moral, and... more This article reviews the ideological, political, economic, social, cultural, personal, moral, and ethical factors that determined the conduct of the Lenin All-Union Academy of Agricultural Sciences session in August 1948, as well as the immediate... Progress in genetics and evolutionary biology in the young Union of Soviet Socialist Republics (USSR) was hindered in the 1930s by the agronomist Trofim Lysenko, who believed that acquired traits are inherited, claimed that heredity can be changed by “educating” plants, and denied the existence of genes. Lysenko was supported by Communist Party elites. Lysenko termed his set of ideas and agricultural techniques “Michurinism,” after the name of the plant breeder Ivan Michurin, but they are currently known as Lysenkoism. Although Michurinism opposed biological science, Lysenko took up one academic position after another. In 1929, Nikolai Vavilov founded the Lenin All-Union Academy of Agricultural Sciences and became its head; it directed t...
Russian Journal of Genetics, 2018
⎯Quality of life and one's subjective evaluation of one's own happiness and well-being are the co... more ⎯Quality of life and one's subjective evaluation of one's own happiness and well-being are the conventional focus of psychology and sociology. However, a genetic factor has recently been found to affect the subjective evaluation of well-being. The contribution of heredity to a personal level of happiness and life satisfaction has been estimated at 30-50% in twin studies. Individual genes associated with these traits have been identified, but the available data are rather discrepant. In this work, alleles of the monoamine oxidase A gene (MAOA) were tested for association with well-being components, such as happiness, health, dangers of living environment, and stress, in Russian men. Trait assessments were based on questionnaires filled out as part of the World Values Survey. It is shown that, among the uVNTR-3R allele carriers, the proportion of men who have high levels of stress, feel unhappy, and live in unsafe environments is lower. The results are discussed in the context of the gene plasticity concept, which provides a possible explanation for how expression of genes related to behavior changes in different environmental conditions.
Scientific reports, Apr 7, 2017
Human mitochondrial DNA haplogroup U is among the initial maternal founders in Southwest Asia and... more Human mitochondrial DNA haplogroup U is among the initial maternal founders in Southwest Asia and Europe and one that best indicates matrilineal genetic continuity between late Pleistocene hunter-gatherer groups and present-day populations of Europe. While most haplogroup U subclades are older than 30 thousand years, the comparatively recent coalescence time of the extant variation of haplogroup U7 (~16-19 thousand years ago) suggests that its current distribution is the consequence of more recent dispersal events, despite its wide geographical range across Europe, the Near East and South Asia. Here we report 267 new U7 mitogenomes that - analysed alongside 100 published ones - enable us to discern at least two distinct temporal phases of dispersal, both of which most likely emanated from the Near East. The earlier one began prior to the Holocene (~11.5 thousand years ago) towards South Asia, while the later dispersal took place more recently towards Mediterranean Europe during the ...
Ecological genetics, 2014
Background. VNTR-polymorphism at 5 HTTLPR regulatory region of human serotonin transporter gene S... more Background. VNTR-polymorphism at 5 HTTLPR regulatory region of human serotonin transporter gene SLC6A4, which is associated with some psychiatric diseases and personality traits, is presented by two alleles, S and L, affecting the gene transcription level. A correlation between the S allele frequency in populations of European and Asian origin and a Hofstede’s individualism-collectivism index was revealed and a hypothesis of culture-gene coevolution was suggested (Chiao, Blizinsky, 2010). Methods. As another reason for the correlation we examined underlying population genetic substructure, which may affect genetic association level. Results. We have experimentally established the 5 HTTLPR genotypes for 2144 individuals to calculate S and L allele frequencies in 21 populations of Eurasia and Africa. In contrast to Eurasia populations, we have found low S allele frequencies in all four African populations studied, although the collectivism index in the populations was high. The total ...
BMJ (Clinical research ed.), 2014
To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to inv... more To use the rs1229984 variant in the alcohol dehydrogenase 1B gene (ADH1B) as an instrument to investigate the causal role of alcohol in cardiovascular disease. Mendelian randomisation meta-analysis of 56 epidemiological studies. 261 991 individuals of European descent, including 20 259 coronary heart disease cases and 10 164 stroke events. Data were available on ADH1B rs1229984 variant, alcohol phenotypes, and cardiovascular biomarkers. Odds ratio for coronary heart disease and stroke associated with the ADH1B variant in all individuals and by categories of alcohol consumption. Carriers of the A-allele of ADH1B rs1229984 consumed 17.2% fewer units of alcohol per week (95% confidence interval 15.6% to 18.9%), had a lower prevalence of binge drinking (odds ratio 0.78 (95% CI 0.73 to 0.84)), and had higher abstention (odds ratio 1.27 (1.21 to 1.34)) than non-carriers. Rs1229984 A-allele carriers had lower systolic blood pressure (-0.88 (-1.19 to -0.56) mm Hg), interleukin-6 levels (-5....
European Journal of Epidemiology, 2013
Russia has very high mortality from cardiovascular disease (CVD), with evidence that heavy drinki... more Russia has very high mortality from cardiovascular disease (CVD), with evidence that heavy drinking may play a role. To throw further light on this association we have studied the association of alcohol with predictors of CVD risk including B-type natriuretic peptide (BNP). Levels of BNP increase primarily in response to abnormal cardiac chamber wall stretch which can occur both as a result of atherosclerosis as well as due to other types of damage to the myocardium. No previous population-based studies have investigated the association with alcohol. We analysed cross-sectional data on drinking behaviour in 993 men aged 25-60 years from the Izhevsk Family Study 2 (IFS2), conducted in the Russian city of Izhevsk in 2008-2009. Relative to non-drinkers, men who drank hazardously had an odds ratio (OR) of being in the top 20 % of the BNP distribution of 4.66 (95 % CI 2.13, 10.19) adjusted for age, obesity, waist-hip ratio, and smoking. Further adjustment for class of hypertension resulted in only slight attenuation of the effect, suggesting that this effect was not secondary to the influence of alcohol on blood pressure. In contrast hazardous drinking was associated with markedly raised ApoA1 and HDL cholesterol levels, but had little impact on levels of ApoB and LDL cholesterol. Similar but less pronounced associations were found in the Belfast (UK) component of the PRIME study conducted in 1991. These findings suggest that the association of heavy drinking with increased risk of cardiovascular disease may be partly due to alcohol-induced non-atherosclerotic damage to the myocardium.
In the current installment of the Ethnographic Atlas we present formalized data (following Murdoc... more In the current installment of the Ethnographic Atlas we present formalized data (following Murdock's scheme) on ten Siberian peoples not covered by any of the previous installments. The reviewed peoples belong to the following cultural blocks - Uralic: Finno-Ugrian (Mansi [Ec15]) and Samodian/Samoyed (Nganasan [ Ec12]); Eskaleut (Ungazikmi [tE c14]); Chukchee-Kamchatkan (Itelmen [Ecl3]); andTungus-Manchu (Evenk [Ec16], Negidal [ Ecl7], Ulch [Ecl8], Orok [Ec19], Oroch [ Ec20], and Udihe [Ec21]).
Research in Microbiology, 2001
Fragments of Clostridium botulinum neurotoxin A (BoNT/A) gene (botA) were expressed in Listeria m... more Fragments of Clostridium botulinum neurotoxin A (BoNT/A) gene (botA) were expressed in Listeria monocytogenes ATCC10527 to produce the L-chain of the toxin in a soluble form. A shuttle vector pAT19 (Em R ) was used to make plasmid pAT-RL containing a botA gene fragment placed under C. botulinum ntnH-gene promoter control. The plasmid also contained a C. botulinum botR/A gene, a positive transcriptional regulator of botA. The cytoplasmic fraction of the L. monocytogenes (pAT-RL) strain was found to contain up to 3 mg/L of a soluble protein of expected size and immunologically positive towards BoNT antibodies. This is the first evidence of heterologous botA gene expression producing a soluble safe derivative of botulinum neurotoxin A needed as a molecular tool for exploratory research in neurosciences as well as a basis for raising protective immunity in humans. 2001 Éditions scientifiques et médicales Elsevier SAS botulinic toxin / botR / heterologous expression / Clostridium botulinum / Listeria monocytogenes
Molecular Biology, 2006
Normally, the ability to digest milk sugar (lactose) is present in every child, but not in every ... more Normally, the ability to digest milk sugar (lactose) is present in every child, but not in every adult. The decrease in lactase synthesis (hypolactasia) results in the inability to digest whole milk. Recent studies of the Finnish population have associated lactase persistence in adults with allele T of the C/T−13910 polymorphism located upstream of the lactase gene; a 100% correlation of primary hypolactasia with genotype C/C has been proved. In this study, the allele and genotype frequencies of C/T−13910 were determined in populations of Russia. The frequencies of genotype C/C, varying from 36.6% in Russians to 88.2% in Chukchi, were close to the published medical and epidemiological data on the hypolactasia frequencies in these populations. Genotyping was carried out by three different methods to determine the optimal one. Genotype C/C proved to be the key determinant of primary hypolactasia. It was assumed that DNA diagnosis of genotype C/C provides a predictive test to detect primary hypolactasia long before its clinical manifestation.
American Journal of Human Genetics, 2009
Journal of Physiological Anthropology and Applied Human Science, 2005
Disorders of dietary sugar assimilation occur more often among native people of the Arctic then i... more Disorders of dietary sugar assimilation occur more often among native people of the Arctic then in temperate climate inhabitants. It is hypothesized that the limited variety of natural exogenous sugars in the Arctic, and their low content in the traditional diets of native northerners in accordance with a "protein-lipid" type of metabolism weakened selection, favoring diversity of disaccharidase enzymes.
Annals of Human Genetics, 2009
Mitochondrial aldehyde dehydrogenase (ALDH2) is one of the most important enzymes in human alcoho... more Mitochondrial aldehyde dehydrogenase (ALDH2) is one of the most important enzymes in human alcohol metabolism. The oriental ALDH2*504Lys variant functions as a dominant negative greatly reducing activity in heterozygotes and abolishing activity in homozygotes. This allele is associated with serious disorders such as alcohol liver disease, late onset Alzheimer disease, colorectal cancer, and esophageal cancer, and is best known for protection against alcoholism. Many
Russian Journal of Genetics, 2004
The frequencies of three alleles, CCR5delta32, CCR2-64I, and SDF1-3′A, known to decrease the risk... more The frequencies of three alleles, CCR5delta32, CCR2-64I, and SDF1-3′A, known to decrease the risk of AIDS onset and the rate of the disease progression in HIV-infected individuals were determined in three native population samples from Russia, Ukraine, and Belarus. The frequencies of the alleles were 0.15, 0.12, 0.21; 0.12, 0.07, 0.20; and 0.12, 0.08, 0.26 for Russians, Ukrainians, and Belarussians, respectively. The proportion of the individuals without any of three protective alleles among Russians, Ukrainians, and Belarussians constituted 49, 65, and 61%, respectively. The genotype frequencies for the three loci studied were in Hardy–Weinberg equilibrium. Based on the three-locus genotype frequencies, the relative hazards of AIDS onset in HIV-infected individuals in each population were calculated as ranging from 0.79 to 0.88. In the samples of Eastern Slavs analyzed the estimated frequencies of the AIDS-protective alleles tested, as well as the frequencies of the corresponding genotypes and the relative hazards of AIDS onset were within the range of these parameters for the other European populations. The data on the allele frequencies and the relative hazard values in Russians, Ukrainians, and Belarussians can be used as the predictors of AIDS onset and progression rate in HIV-1-infected individuals from the populations studied.
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Papers by Svetlana A. Borinskaya