Однонуклеотидные полиморфизмы: роль в развитии рака молочной железы и перспективы клинического применения

Background. Breast cancer (BC) is the most prevalent cancer in women worldwide. Genetic susceptibility to BC is heterogeneous including mutations with medium to high penetrance and single nucleotide polymorphisms (SNPs) with low penetrance. Precise assessment of genetic risk would allow to personalize the programs of prevention and treatment of BC and to reduce mortality.Objective. We aimed to determine the frequencies of single nucleotide polymorphisms rs2981582 (FGFR2), rs3817198 (LSP1), rs889312 (5q11), rs13281615 (8q24), rs13387042 (2q35), rs3803662 (16q12) in unselected group of BC patients and healthy women in Russian population, to reveal possible associations of these polymorphisms with BC development.Subjects and methods. An unselected group of 963 patients with BC and control group of 591 healthy female blood donors were examined. Whole peripheral blood samples were used to extract genomic DNA. Real-time polymerase chain reaction with melting curves analysis was performed for SNP genotyping.Results: Minor allele frequencies were as follows: 41.6±1.1% and 36.2±1.1% for rs2981582 (FGFR2), 35.3±1.1% and 34.3±1.1% for rs3817198 (LSP1), 39.3±1.1% and 43.7±1.1% for rs13387042 (2q35), 27.7±1.0% and 27.8±1.0% for rs889312 (5q11), 46.2±1.1% and 44.7±1.1% for rs13281615 (8q24), 35.7±1.1% and 29.9±1.1% for rs3803662 (16q12) in group of BC patients and group of healthy women respectively. The obtained ORs for BC were 1.26 (95% CI, 1.11–1.41; p=0.003) for rs2981582, OR=0.84 (95% CI, 0.69–0.98; p=0.02) for rs13387042 and OR=1.30 (95% CI, 1.14–1.45; p=0.002) for rs3803662.Conclusion: We confirmed the associations of previously identified SNPs rs2981582 (FGFR2), rs13387042 (2q35) and rs3803662 (16q12) with BC in Russian population.Введение: Рак молочной железы – самое распространённое онкологическое заболевание у женщин во всём мире. Генетическая предрасположенность к раку молочной железы гетерогенна, обусловлена мутациями с высокой и средней пенетрантностью и однонуклеотидными полиморфизмами с низкой пенетрантностью. Точная оценка генетического риска позволит персонализировать программы профилактики и лечения, а также снизить смертность от рака молочной железы.Задачи исследования: Определить частоты встречаемости однонуклеотидных полиморфизмов rs2981582 (FGFR2), rs3817198 (LSP1), rs889312 (5q11), rs13281615 (8q24), rs13387042 (2q35), rs3803662 (16q12) в неотобранной выборке больных раком молочной железы и у здоровых женщин в российской популяции, выявить возможные ассоциации указанных полиморфизмов с развитием рака молочной железы.Материал и методы: Обследованы неотобранные выборки больных раком молочной железы (963 человека), здоровых женщин-доноров крови (591 человек). Материалом служила цельная периферическая кровь, генотипирование проведено методом ПЦР в режиме реального времени с анализом кривых плавления с использованием оригинальных олигонуклеотидов.Результаты: Частоты минорных аллелей однонуклеотидных полиморфизмов составили 41,6±1,1% и 36,2±1,1% для rs2981582 (FGFR2), 35,3±1,1% и 34,3±1,1% для rs3817198 (LSP1), 39,3±1,1% и 43,7±1,1% для rs13387042 (2q35), 27,7±1,0% и 27,8±1,0% для rs889312 (5q11), 46,2±1,1% и 44,7±1,1% для rs13281615 (8q24), 35,7±1,1% и 29,9±1,1% для rs3803662 (16q12) в группах больных РМЖ и здоровых женщин, соответственно. Достоверные ассоциации с развитием рака молочной железы выявлены для полиморфизмов rs2981582 в гене FGFR2 (OR=1,26; 95% CI, 1,11–1,41; p=0,003), rs13387042 в локусе 2q35 (OR=0,84; 95% CI, 0,69–0,98; p=0,02) и rs3803662 в локусе 16q12 (OR=1,30; 95% CI, 1,14–1,45; p=0,002).Выводы: Подтверждён вклад прежде идентифицированных низкопенетрантных однонуклеотидных полиморфизмов rs2981582 в гене FGFR2, rs13387042 в локусе 2q35 и rs3803662 в локусе 16q12 в наследственную предрасположенность к раку молочной железы в российской популяции

Change of Ecological and Biological Properties of Cespitose and Podsolic Soil at Binomial Deposits Exposed to Local Wild Fire

The article deals with the ground wild fire impact on physical and chemical and ecological and biological condition of cespitose and podsolic soils on binomial deposits of the Meshcherska province of Gus-Khrustalny district, the Vladimir region under different forest cultures type. In the course of the study, a clear differentiation of changes in the microbiological pool of sod-podzolic soil on bicompartmental deposits under different types of forests was established. The quantitative composition of ammonia factors after exposure to pyrogenic exposure decreased on the sod-podzolic soil of coniferous forests, while the number of photographers, mushrooms, and oligotrophs sharply decreases in the area of pyrogenic exposure in the mixed forest. Within the territory exposed to fire, there is a decrease in the content of organic matter, as well as the content of other biophilic elements. The physical properties of sod-podzolic soil on bicompartmental deposits are also subject to change, in the direction of significant deterioration

Impact Of Different Type Of Cattle Grazing On The Processes Of Agrochemical Degradation and Digression Of Soil Cover

The article proposes the results of studying the influence of various types of cattle grazing on the content of mobile forms of phosphorus (P2O5), potassium (K2O), organic matter (C,%) and Ph rate. It has been found out that with different types of cattle grazing, clear differentiation of the agrochemical state within the land plots is manifested. The degree of vegetation cover digression is characterized by a significant decrease in the species composition depending on the type of cattle grazing. Various levels of interrelation between the type of cattle grazing and observable dynamics of changes in the ecological functions of soil cover and their influence on the structure of the digression levels formation are designated in the article. The obtained results based on the conclusions of this article may serve as one of the options for conducting research on the assessment of destructive anthropogenic activity. For the most effective protection of soil cover of territories exposed to livestock impact, it is necessary to develop agrotechnical complexes. It has been discovered that real loads as a result of uncontrolled and periodic cattle overgrazing are 10 times higher than the maximum permissible norms that manifests itself in intense and significant violation of a natural ecosystem

Infrared spectroscopic ellipsometry and optical spectroscopy of plasmons in classic 3D topological insulators

Narrow bandgap BiSe, BiTe, and SbTe, commonly referred to as classic 3D topological insulators, were studied at room temperature by spectroscopic ellipsometry and optical reflection spectroscopy over the mid-IR-near-infrared photon energy range. Complementarily, Hall measurements were performed. Plasmons in optical loss function and reflection coefficient were identified. The conventional approach based on the high frequency dielectric constant was shown to work well in the description of plasmons in BiSe and SbTe and to fail in the case of a similar compound, BiTe. The obtained results are discussed in terms of single- and multivalley approaches to the studied samples with taking the details of the calculated band structure into account.This work was supported by the Science Development Foundation under the President of the Republic of Azerbaijan (Grant No. EI F-BGM-4-RFTF1/2017-21/04/1-M-02 and EİF-BGM-3-BRFTF-2+/2017-15/02/1), the Russian Foundation for Basic Research (Grant No. 18-52-06009), and the Saint Petersburg State University grant for scientific investigations (Grant No. 15.61.202.2015)