scholarly journals MODERN CONCEPTS OF THE MOLECULAR GENETIC MARKERS OF PROSTATE CANCER

2021 ◽  
Vol 20 (5) ◽  
pp. 162-169
Author(s):  
A. M. Zhumakayev ◽  
V. V. Benberin ◽  
N. A. Shanazarov ◽  
M. E. Tuleutaev ◽  
N. K. Seydalin ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Ethnic Groups ◽  
Genetic Markers ◽  
Molecular Genetic ◽  
Epidemiological Data ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Studies ◽  
Molecular Genetic Markers ◽  
Literary Sources

Purpose of the study: to present up-to-date data on molecular genetic studies aimed to identify the risks of developing prostate cancer in representatives of various ethnic groups. Material and Methods. Literary sources were searched in databases such as PubMed, Medline, Google Scholar. We had analyzed 60 sources on the risks of developing prostate cancer. The epidemiological data on the prostate cancer incidence and risk factors depending on age characteristics, hormonal status and hereditary predisposition were shown. Results. The pathogenetic features of prostate cancer depending on ethnicity were described. The paper presents data from both European and Asian ethnic groups. In a number of studies, significant genetic differences in single nucleotide polymorphisms associated with the development of prostate cancer were identified. Conclusion. Research in the field of determining the risks of developing prostate cancer becomes more and more relevant due to the emergence of new molecular genetic markers, as well as the influence of various ethnic characteristics. Nevertheless, many questions of modern diagnosis of prostate cancer are still open, therefore, research in this area remains promising. 

Association of molecular genetic markers and oxidative stress indices in workers in contact with asbestos dust

2020 ◽  
pp. 560-560
Author(s):  
L. M. Bezrukavnikova ◽  
N. N. Anokhin ◽  
E. S. Tsidilkovskaya
Keyword(s):  
Oxidative Stress ◽  
Lipid Peroxidation ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Markers ◽  
Molecular Genetic ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Stress Indices ◽  
Molecular Genetic Markers ◽  
And Oxidative Stress

The studied single-nucleotide polymorphisms EPHX1 (rs1051740), SAD2 (rs4880), MP9 (rs17576) in persons exposed to asbestos dust are associated with elevated levels of lipid peroxidation catabolites, which confirms their significance in the development of asbestos-related bronchopulmonary pathology.

scholarly journals A study of new molecular genetic markers of sudden cardiac death identified in the analysis of the results of whole-exome sequencing

2020 ◽  
pp. 33-35
Author(s):  
А.А. Иванова ◽  
Е.С. Мельникова ◽  
А.А. Гуражева ◽  
С.К. Малютина ◽  
В.П. Новоселов ◽  
...  
Keyword(s):  
Sudden Cardiac Death ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Markers ◽  
Cardiac Death ◽  
Molecular Genetic ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Molecular Genetic Markers ◽  
Whole Exome

Целью исследования является подтверждение ассоциации с внезапной сердечной смертью однонуклеотидных полиморфизмов rs77270326, rs34643859, выявленных в ходе собственного полноэкзомного секвенирования как возможных молекулярно-генетических маркеров внезапной сердечной смерти. В группе внезапной сердечной смерти (n=400, средний возраст умерших 53,2±8,7 года, доля мужчин - 70,9%, женщин - 29,1%) и контрольной группе (n=400, средний возраст 53,1±8,3 года, мужчины - 68,3 %, женщины - 31,7%) проведено генотипирование по выбранным полиморфизмам методом ПЦР-ПДРФ по авторским протоколам. По частотам генотипов и аллелей полиморфизма rs77270326 не найдено статистически значимых различий между группами (p>0,05). В группе женщин в возрасте до 50 лет выявлено статистически значимое уменьшение доли носительниц генотипа ТТ в группе внезапной сердечной смерти (32,3%) по сравнению с контрольной группой (60,0%) (ОШ=0,32, 95%ДИ 0,11-0,91, р=0,04). Таким образом, однонуклеотидный полиморфизм rs77270326 не ассоциирован с внезапной сердечной смертью. Для женщин младше 50 лет генотип ТТ полиморфизма rs34643859 ассоциирован с протективным эффектом в отношении внезапной сердечной смерти. The aim of the study is to confirm the association with sudden cardiac death of single-nucleotide polymorphisms rs77270326, rs34643859, identified during own whole-exome sequencing as possible molecular genetic markers of sudden cardiac death. In the group of sudden cardiac death (n = 400, the average age of the dead - 53.2 ± 8.7 years, the proportion of men - 70.9%, women - 29.1%) and the control group (n = 400, average age - 53 , 1 ± 8.3 years, men - 68.3%, women - 31.7%) genotyping of the selected polymorphisms was conducted by PCR-RFLP method according to the authors’ protocols. According to the frequencies of genotypes and alleles of rs77270326 polymorphism, no statistically significant differences were found between the groups (p>0.05). A group of women under the age of 50 revealed a statistically significant decrease in the proportion of carriers of the TT genotype in the group of sudden cardiac death (32.3%) compared with the control group (60.0%) (OR = 0.32, 95% CI 0, 11-0.91, p = 0.04). Thus, the rs77270326 is not associated with sudden cardiac death. For women under the age of 50, the TT genotype of rs34643859 polymorphism is associated with a protective effect against sudden cardiac death.

scholarly journals MOLECULAR GENETIC STUDIES OF COMORBIDITY

2015 ◽  
Vol 14 (6) ◽  
pp. 94-102
Author(s):  
Ye. Yu. Bragina ◽  
M. B. Freidin
Keyword(s):  
Molecular Biology ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Studies ◽  
Gene Environment ◽  
Genome Variations ◽  
Genetic Specificity

This review focuses at the problem of the genetic basis of comorbidity. We discuss the concepts and terms relating to combinations of diseases. The guidelines of the study of comorbidity using modern high throughput methods and approaches of genetics, molecular biology and bioinformatics are designated. In this review we present results of studies showing genetic specificity for the combined phenotypes dif-ferent from the isolated disease, we considergene-gene and gene-environment interactions in comorbidity. We also discuss the role of single nucleotide polymorphisms and structural genome variations in the development of comorbidity. Own results of researching shared genes of inversely comorbid diseases like as bronchial asthma and tuberculosis are presented.

Molecular genetic markers for thyroid FNAB

2015 ◽  
Vol 54 (03) ◽  
pp. 94-100 ◽  
Author(s):  
P. B. Musholt ◽  
T. J. Musholt
Keyword(s):  
Genetic Markers ◽  
Thyroid Nodules ◽  
Molecular Genetic ◽  
Genetic Alterations ◽  
Diagnostic Tools ◽  
Ultrasound Screening ◽  
Thyroid Malignancy ◽  
Thyroid Carcinomas ◽  
Molecular Genetic Markers ◽  
The Impact

SummaryAim: Thyroid nodules > 1 cm are observed in about 12% of unselected adult employees aged 18–65 years screened by ultrasound scan (40). While intensive ultrasound screening leads to early detection of thyroid diseases, the determination of benign or malignant behaviour remains uncertain and may trigger anxieties in many patients and their physicians. A considerable number of thyroid resections are consecutively performed due to suspicion of malignancy in the detected nodes. Fine needle aspiration biopsy (FNAB) has been recommended for the assessment of thyroid nodules to facilitate detection of thyroid carcinomas but also to rule out malignancy and thereby avoid unnecessary thyroid resections. However, cytology results are dependent on experience of the respective cytologist and unfortunately inconclusive in many cases. Methods: Molecular genetic markers are already used nowadays to enhance sensitivity and specificity of FNAB cytology in some centers in Germany. The most clinically relevant molecular genetic markers as pre-operative diagnostic tools and the clinical implications for the intraoperative and postoperative management were reviewed. Results: Molecular genetic markers predominantly focus on the preoperative detection of thyroid malignancies rather than the exclusion of thyroid carcinomas. While some centers routinely assess FNABs, other centers concentrate on FNABs with cytology results of follicular neoplasia or suspicion of thyroid carcinoma. Predominantly mutations of BRAF, RET/PTC, RAS, and PAX8/PPARγ or expression of miRNAs are analyzed. However, only the detection of BRAF mutations predicts the presence of (papillary) thyroid malignancy with almost 98% probability, indicating necessity of oncologic thyroid resections irrespective of the cytology result. Other genetic alterations are associated with thyroid malignancy with varying frequency and achieve less impact on the clinical management. Conclusion: Molecular genetic analysis of FNABs is increasingly performed in Germany. Standardization, quality controls, and validation of various methods need to be implemented in the near future to be able to compare the results. With increasing knowledge about the impact of genetic alterations on the prognosis of thyroid carcinomas, recommendations have to be defined that may lead to individually optimized treatment strategies.

Molecular genetic markers for assessing individual sensitivity to lead

2019 ◽  
Author(s):  
Л.П. Кузьмина ◽  
◽  
А.Г. Хотулева ◽  
М.М. Коляскина ◽  
Л.М. Безрукавникова ◽  
...  
Keyword(s):  
Genetic Markers ◽  
Molecular Genetic ◽  
Individual Sensitivity ◽  
Molecular Genetic Markers
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