scholarly journals PTH Gene Polymorphism and Breast Cancer Risk in Kazakhstan

2014 ◽  
Vol 3 ◽  
Author(s):  
Nurgul Sikhayeva ◽  
Zhannur Abilova ◽  
Ivan Shtefanov ◽  
Abai Makishev ◽  
Ainur Akilzhanova
Keyword(s):  
Breast Cancer ◽  
Parathyroid Hormone ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Gene Polymorphism ◽  
Genomic Dna ◽  
Venous Blood ◽  
Experimental Studies ◽  
The Body ◽  
Control Group

Introduction. Breast cancer is the most common type of cancer among women. In Kazakhstan, breast cancer holds first place among causes of women death caused by cancer in the 45-55 year age group . Many studies have shown that the risk of acquiring breast cancer may be related to the level of calcium in the blood serum. One of the important regulators of calcium metabolism in the body is the parathyroid hormone. Single nucleotide polymorphisms in the gene encoding the parathyroid hormone (PTH) are associated with breast cancer development risk, and may modify the associative interaction between the levels of calcium intake and breast cancer. Experimental studies have shown that PTH gene has a carcinogenic effect. At least three studies showed a weak positive correlation between the risk of acquiring breast cancer and primary hyperparathyroidism, a state with high levels of PTH and often high levels of calcium. The aim of this investigation was to evaluate potential association between PTH gene polymorphism and breast cancer risk among Kazakhstani women.Methods. Female breast cancer patients (n = 429) and matched control women (n = 373) were recruited into a case – control study,. Genomic DNA was extracted from peripheral venous blood of study participants using Wizard® Genomic DNA Purification Kit (Promega, USA). Detection of PTH gene polymorphism (rs1459015) was done by means of the TaqMan® SNP Genotyping Assay of real-time PCR. Statistical analysis was conducted using SPSS 19.0.Results. PTH gene alleles were in Hardy–Weinberg equilibrium (p > 0.05). Distribution was 59% CC, 35% CT, 6% TT in the group with breast cancer and 50% CC, 43% CT, 6% TT in the control group. Total difference (between the group with breast cancer and the control group) in allele frequencies for PTH polymorphism was not significant (p > 0.05). No association was found between rs1459015 TT and breast cancer risk (OR = 1.039; 95%, CI 0.740 - 1.297; p = 0.893).Conclusion. We found no association between PTHrs1459015 polymorphism and breast cancer in our present study. Further studies are required to confirm our results and clarify role of PTH gene genotypes on breast cancer risk.

Microsatellite polymorphism in the EGFR, NOTCH4 and E2F4 genes and their association with breast cancer risk

2012 ◽  
Vol 27 (3) ◽  
pp. 219-226 ◽  
Author(s):  
Ana González-Hernández ◽  
Luis Alberto Henríquez-Hernández ◽  
Antonio Cabrera De León ◽  
M. del Cristo Rodríguez-Pérez ◽  
Adolfo Murias-Rosales ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Risk Factors ◽  
Breast Cancer Risk ◽  
General Population ◽  
Cancer Risk ◽  
Control Sample ◽  
Control Group ◽  
Polymorphic Microsatellites ◽  
Human Genes ◽  
Allelic Distribution

Background The sequences of many human genes that encode proteins involved in cancer contain polymorphic microsatellites. Variations in microsatellite length may constitute risk factors in several human diseases, a possibility that has been little explored in breast cancer. Among the genes that contain polymorphic microsatellites are EGFR, NOTCH4 and E2F4. The length of some of these microsatellites has been associated with breast cancer risk. Purpose and methods To determine whether the length of the microsatellites (CA)n in EGFR, (CTG)n in NOTCH4 and (AGC)n in E2F4 was associated with breast cancer risk, we genotyped these 3 microsatellites in 212 women with breast cancer and a control group of 308 women from the general population who did not have this disease. Results and conclusions The allelic distribution observed for the 3 microsatellites matched that found in other white populations, with the exception of some (AGC)n alleles in E2F4, which have not been described previously. The length of (CA)n in EGFR and (CTG)n in NOTCH4 was not associated with breast cancer (OR=0.99; 95% CI 0.59–1.37; p=0.619 and OR=1.08; 95% CI 0.71–1.65; p=0.725, respectively). Short alleles (<13 repeats) of (AGC)n in E2F4 were less frequent in women with cancer than in the control sample.

scholarly journals CYP2E1-DEPENDENT VARIATIONS IN HEPATOCYTES DAMAGE DURING TREATMENT OF TUBERCULOSIS

2019 ◽  
Vol 16 (3) ◽  
pp. 20-26
Author(s):  
L.V. Natrus ◽  
L.V. Gayova ◽  
O.O. Gorkunenko ◽  
P.A. Chernovol ◽  
M.V. Zelinska
Keyword(s):  
Gene Polymorphism ◽  
Maintenance Therapy ◽  
Genomic Dna ◽  
Clinical Laboratory ◽  
Intensive Therapy ◽  
Venous Blood ◽  
Control Group ◽  
Drug Induced ◽  
Cyp2e1 Gene ◽  
Tb Treatment

Relevance. Investigation of polymorphism in a locus of CYP2E1 as the prognostic factor of drug-induced hepatotoxicity at anti-TB therapy is significant due to the influence of CYP2E1 on drug metabolism. The objective of the investigation is to analyze the association of rs2070676 СYP2E1 gene polymorphism with drug-induced hepatotoxicity by means of the clinical-laboratory values of serum transaminases at anti-TB treatment. Materials and methods. The study involved 47 patients with drug-susceptible tuberculosis first time discovered. 58 healthy volunteers comprised a control group. Laboratory indices were determined in venous blood three times: before the treatment as baseline; in 2 months of intensive therapy (isoniazid, rifampicin, ethambutol, pyrazinamide), then in 4 months of maintenance therapy (isoniazid, rifampicin). Serum activities of enzymes ALT, AST, and GGT were measured by standard algorithm on automatic analyzer BS-300. Analysis of rs2070676 polymorphism of CYP2E1 gene was performed by polymerase chain reaction using standard PureLink® Genomic DNA Kit for Purification of Genomic DNA; Manufacturer of INVITROGEN (USA). For statistical processing, IBM SPSS Statistics 23 was applied. Results. Investigation of serum ALT and AST in patients with major genotype CYP2E1 (C/C) showed the lower baseline ALT and AST levels comparing to the control group, which might be caused by suppression of hepatocytes functions at the development of the disease. Anti-TB treatment caused an increase in ALT and AST levels comparing to the baseline in patients with major CYP2E1 (C/C) genotype. In the group with C/G polymorphism, the baseline ALT level didn’t differ much from the baseline of the control group; it showed a decrease after intensive therapy and returned back to the initial level at maintenance therapy. This might be related to the certain protective property of СYP2E1 gene polymorphism. The AST level was increased after intensive therapy (to a smaller extent than for the patients with major C/C genotype) and remained on the same level at maintenance therapy. A study of GGT showed a gradual increase regardless of genotype. Conclusion. According to the data of the experiment, the status of hepatocytes in patients with tuberculosis at baseline and during treatment was different depending on the CYP2E1 genotype. The results of the experiment indicate that the CYP2E1 gene polymorphism has a certain protecting role. It reduces the level of drug metabolites and hepatotoxicity which causes mitochondrial dysfunction.

scholarly journals A common 936 C/T gene polymorphism of vascular endothelial growth factor is associated with decreased breast cancer risk

2003 ◽  
Vol 106 (4) ◽  
pp. 468-471 ◽  
Author(s):  
Peter Krippl ◽  
Uwe Langsenlehner ◽  
Wilfried Renner ◽  
Babak Yazdani-Biuki ◽  
Gerald Wolf ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Vascular Endothelial Growth Factor ◽  
Growth Factor ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Gene Polymorphism ◽  
Vascular Endothelial ◽  
Endothelial Growth Factor

hOGG1 gene polymorphism and breast cancer risk: A systematic review and meta-analysis study

2017 ◽  
Vol 24 (1) ◽  
pp. 70-73 ◽  
Author(s):  
Ali Sanjari Moghaddam ◽  
Milad Nazarzadeh ◽  
Zeinab Bidel ◽  
Aliasghar Karamatinia ◽  
Hossein Darvish ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Systematic Review ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Gene Polymorphism ◽  
Meta Analysis ◽  
Analysis Study ◽  
Hogg1 Gene

scholarly journals Analysis of BRCA1 and BRCA2 genes mutations in breast cancer patients in an experiment

2020 ◽  
Vol 101 (3) ◽  
pp. 342-346
Author(s):  
L M Saрtarova ◽  
E N Cogina ◽  
L M Khasanshina ◽  
Sh N Galimov
Keyword(s):  
Breast Cancer ◽  
Cancer Risk ◽  
Brca2 Mutation ◽  
Venous Blood ◽  
Brca1 Gene ◽  
Control Group ◽  
Breast Cancer Patients ◽  
Brca1 And Brca2 ◽  
Screening Programs ◽  
Brca1 And Brca2 Genes

Aim. To assess the presence of mutations based on the analysis of the prevalence of polymorphisms in the BRCA1 and BRCA2 genes in patients admitted to the Republican clinical Oncology dispensary of the Ministry of Health of the Republic of Bashkortostan with breast cancer. Methods. 137 patients with breast cancer aged 25 to 80 years underwent molecular genetic testing to detect BRCA1 and BRCA2 mutations by using allele-specific real-time polymerase chain reaction. Venous blood from 105 healthy donors was used as a control group. Results. The study of genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers revealed mutations in the genes BRCA1 185delAG, 4153delA, 5382insC, T300G and BRCA2-6174 del T, which help identify genetic susceptibility to breast cancer (NSCLC). The most common form of genetic variation in patients with breast cancer was 5382insC mutation in BRCA1 gene, which was 14.59% of the total number of examined patients and 90% of the total number of positive results. BRCA1 and BRCA2 genes mutations lead to producing truncated protein, which cannot properly perform its functions and ensure DNA cell stability. Conclusion. Considering high breast cancer risk in BRCA1 and BRCA2 genes mutations carriers, our results show the advisability of including screening for 5382insC, 4153delA and T300G mutations in the BRCA1 gene to the screening programs for determining the risk of breast cancer.

scholarly journals Breast cancer prevention in districts affected by the Chernobyl nuclear power plant accident beginning from child ages

2021 ◽  
pp. 29-35
Author(s):  
Yu.I. Bandazhevskyi ◽  
◽  
N.F. Dubovaya ◽  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Genetic Predisposition ◽  
Nuclear Power ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
The Body ◽  
Exclusion Zone ◽  
Folate Cycle

The aim of this paper was to assess the prevalence of the T risk allele of the MTHFR:677 genetic polymorphism in a group of girls from Ivankovsky and Polessky districts located near the Chernobyl exclusion zone. In addition, we assessed variants of combined carriership of the T allele with risk alleles of other genetic polymorphisms regulating the folate cycle. Research methods. Immunochemical, statistical. Results. Genetic predisposition to breast cancer risk was analyzed in a group of 251 adolescent girls. Carriership of the T allele of the MTHFR:С677Т polymorphism was found in 142 children (56.6%), while the homozygous T/T variant was found in 25 girls, or in 10.0% of cases. Compound heterozygosity for the 677CT/1298AC alleles of the MTHFR gene was recorded in 60 individuals, or in 23.9% of cases. Conclusions. The revealed genetic changes in the folate cycle lead to a significant decrease in the activity of methylenetetrahydrofolate reductase, and, accordingly, to an increase in the level of homocysteine in the blood, creating conditions for the occurrence of breast cancer. Given the high level of genetic predisposition, taking into account the constant impact on the body of radioactive elements and their decay products, the occurrence, as a consequence, of serious metabolic disorders, it is necessary to identify the breast cancer risk group of children.

Sign in / Sign up

Export Citation Format

Share Document