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1.
Bratisl Lek Listy ; 123(12): 891-896, 2022.
Article in English | MEDLINE | ID: mdl-36342876

ABSTRACT

OBJECTIVES: This investigation aimed to estimate reliability of the WHOQOL-BREF questionnaire and quality of life of patients after PCI or CABG surgery. METHODS: In this cross-sectional study, 268 patients after PCI or CABG surgery were studied in East Kazakhstan and Pavlodar regions of Kazakhstan from September to December 2019. The Russian version of the World Health Organization Quality of Life Instrument, Short Form (WHOQOL-BREF) was used to measure their quality of life. Cronbach's alpha coefficient, Pearson's correlation coefficient, paired t-test, independent t-test, and linear regression model were used to analyze the data. RESULTS: The mean age of the participants was 60.8 ± 9.2 years, while most of them were male (75.0 %). The overall observed Cronbach's alpha coefficient for the WHOQOL-BREF was 0.842, ranging from 0.668 to 0.764 in its four domains. The total mean score of the respondents on the WHOQOL-BREF was 13.97. The highest and lowest mean scores were observed in the environmental domain (15.22) and the physical health domain (13.00), respectively. CONCLUSIONS: The WHOQOL-BREF questionnaire has a good reliability in characterizing the quality of life of patients after PCI or CABG surgery. Patients after PCI or CABG surgery had a relatively moderate quality of life (Tab. 6, Ref. 23).


Subject(s)
Percutaneous Coronary Intervention , Quality of Life , Humans , Male , Middle Aged , Aged , Female , Psychometrics , Reproducibility of Results , Cross-Sectional Studies , Surveys and Questionnaires , World Health Organization , Coronary Artery Bypass
2.
Article in English | MEDLINE | ID: mdl-32764296

ABSTRACT

Investigating initial behavioral changes caused by irradiation of animals might provide important information to aid understanding of early health effects of radiation exposure and clinical features of radiation injury. Although previous studies in rodents suggested that radiation exposure leads to reduced activity, detailed properties of the effects were unrevealed due to a lack of proper statistical analysis, which is needed to better elucidate details of changes in locomotor activity. Ten-week-old male Wistar rats were subjected to single point external whole-body irradiation with 60Co gamma rays at 0, 2.0, 3.5, and 5.0 Gy (four rats per group). Infrared sensors were used to continuously record the locomotor activity of each rat. The cumulative number of movements during the night was defined as "activity" for each day. A non-linear mixed effects model accounting for individual differences and daily fluctuation of activity was applied to analyze the rats' longitudinal locomotor data. Our statistical method revealed characteristics of the changes in locomotor activity after radiation exposure, showing that (1) reduction in activity occurred immediately-and in a dose-dependent manner-after irradiation and (2) recovery to pre-irradiation levels required almost one week, with the same recovery rate in each dose group.


Subject(s)
Gamma Rays , Locomotion , Whole-Body Irradiation , Animals , Dose-Response Relationship, Radiation , Gamma Rays/adverse effects , Male , Rats , Rats, Wistar
3.
Radiat Environ Biophys ; 56(4): 337-343, 2017 11.
Article in English | MEDLINE | ID: mdl-28993937

ABSTRACT

More than 400 nuclear explosion tests were conducted at the Semipalatinsk Nuclear Test Site (SNTS) and significant radioactive substances were released. The long-term consequences of the activities at the SNTS and the appearance of any hereditary effects remain insufficiently studied about 25 years after the test site was closed. The population living in villages near the SNTS are considered to have been heavily exposed to external and internal radiation. This study aims to perform an assessment and comprehensive cytogenetic analysis of the inhabitants living near the SNTS, and their first-(F1) and second-(F2) generation children. Residents of the East Kazakhstan region living in the area covered by the former SNTS were included in the study. To evaluate the hereditary effects of nuclear testing, comprehensive chromosome analyses were performed in lymphocytes using conventional Giemsa and fluorescent in situ hybridization methods in 115 F1 and F2 descendants in the villages of Dolon and Sarzhal, which were heavily contaminated. The parents of the subjects had permanently lived in the villages. A higher number of stable-type chromosome aberrations such as translocations was found in these residents than in 80 residents of the control area, Kokpecty, which indicates the possibility that radiation had biological effects on the exposed subjects.


Subject(s)
Chromosome Aberrations/radiation effects , Environmental Pollutants/adverse effects , Housing , Radiation Exposure/adverse effects , Adult , Chromosomes, Human/genetics , Chromosomes, Human/radiation effects , Female , Humans , Kazakhstan , Male , Metaphase/radiation effects , Middle Aged , Nuclear Warfare
4.
Radiat Environ Biophys ; 56(3): 205-211, 2017 08.
Article in English | MEDLINE | ID: mdl-28623399

ABSTRACT

We sought to identify the features of endothelial function in rectal cancer patients who were exposed to chronic ionizing radiation from a nuclear test site in Kazakhstan. We examined 146 individuals, 76 of whom were rectal cancer patients. The existence of a complex of disturbances of the endothelium and hemostasis systems in patients vs non-patients was revealed. Endothelial dysfunction was expressed as an increase of nitric oxide (NO) production along with decreases in vasodilatation function, and increased levels of von Willebrand factor in blood, along with an increase in the number of circulating endotheliocytes. Significant correlations between indicators of endothelial function and vascular-platelet hemostasis were observed. These changes and their interrelations were expressed more strongly in the patients who lived in the contaminated area around the nuclear test site. Such patients could have an increased risk of thrombosis and other complications after the treatment of a malignant neoplasm.


Subject(s)
Endothelium, Vascular/pathology , Endothelium, Vascular/radiation effects , Neoplasms, Radiation-Induced/pathology , Radiation Exposure/adverse effects , Rectal Neoplasms/pathology , Aged , Blood Platelets/radiation effects , Case-Control Studies , Female , Humans , Male , Middle Aged , Neoplasms, Radiation-Induced/blood , Neoplasms, Radiation-Induced/etiology , Rectal Neoplasms/blood , Rectal Neoplasms/etiology
6.
Radiat Environ Biophys ; 56(1): 47-54, 2017 03.
Article in English | MEDLINE | ID: mdl-28188481

ABSTRACT

There were two sources of ionizing irradiation after the atomic bombings of Hiroshima and Nagasaki: (1) initial gamma-neutron irradiation at the moment of detonation and (2) residual radioactivity. Residual radioactivity consisted of two components: radioactive fallout containing fission products, including radioactive fissile materials from nuclear device, and neutron-activated radioisotopes from materials on the ground. The dosimetry systems DS86 and DS02 were mainly devoted to the assessment of initial radiation exposure to neutrons and gamma rays, while only brief considerations were given for the estimation of doses caused by residual radiation exposure. Currently, estimation of internal exposure of atomic bomb survivors due to dispersed radioactivity and neutron-activated radioisotopes from materials on the ground is a matter of some interest, in Japan. The main neutron-activated radionuclides in soil dust were 24Na, 28Al, 31Si, 32P, 38Cl, 42K, 45Ca, 46Sc, 56Mn, 59Fe, 60Co, and 134Cs. The radionuclide 56Mn (T 1/2 = 2.58 h) is known as one of the dominant beta- and gamma emitters during the first few hours after neutron irradiation of soil and other materials on ground, dispersed in the form of dust after a nuclear explosion in the atmosphere. To investigate the peculiarities of biological effects of internal exposure to 56Mn in comparison with external gamma irradiation, a dedicated experiment with Wistar rats exposed to neutron-activated 56Mn dioxide powder was performed recently by Shichijo and coworkers. The dosimetry required for this experiment is described here. Assessment of internal radiation doses was performed on the basis of measured 56Mn activity in the organs and tissues of the rats and of absorbed fractions of internal exposure to photons and electrons calculated with the MCNP-4C Monte Carlo using a mathematical rat phantom. The first results of this international multicenter study show that the internal irradiation due to incorporated 56Mn powder is highly inhomogeneous, and that the most irradiated organs of the experimental animals are: large intestine, small intestine, stomach, and lungs. Accumulated absorbed organ doses were 1.65, 1.33, 0.24, 0.10 Gy for large intestine, small intestine, stomach, and lungs, respectively. Other organs were irradiated at lower dose levels. These results will be useful for interpretation of the biological effects of internal exposure of experimental rats to powdered 56Mn as observed by Shichijo and coworkers.


Subject(s)
Manganese Compounds/chemistry , Manganese Compounds/metabolism , Neutrons , Oxides/chemistry , Oxides/metabolism , Radioisotopes , Animals , Powders , Radiation Dosage , Radioactivity , Radiometry , Rats , Rats, Wistar
7.
Radiat Environ Biophys ; 56(1): 55-61, 2017 03.
Article in English | MEDLINE | ID: mdl-28180988

ABSTRACT

To fully understand the radiation effects of the atomic bombing of Hiroshima and Nagasaki among the survivors, radiation from neutron-induced radioisotopes in soil and other materials should be considered in addition to the initial radiation directly received from the bombs. This might be important for evaluating the radiation risks to the people who moved to these cities soon after the detonations and probably inhaled activated radioactive "dust." Manganese-56 is known to be one of the dominant radioisotopes produced in soil by neutrons. Due to its short physical half-life, 56Mn emits residual radiation during the first hours after explosion. Hence, the biological effects of internal exposure of Wistar rats to 56Mn were investigated in the present study. MnO2 powder was activated by a neutron beam to produce radioactive 56Mn. Rats were divided into four groups: those exposed to 56Mn, to non-radioactive Mn, to 60Co γ rays (2 Gy, whole body), and those not exposed to any additional radiation (control). On days 3, 14, and 60 after exposure, the animals were killed and major organs were dissected and subjected to histopathological analysis. As described in more detail by an accompanying publication, the highest internal radiation dose was observed in the digestive system of the rats, followed by the lungs. It was found that the number of mitotic cells increased in the small intestine on day 3 after 56Mn and 60Co exposure, and this change persisted only in 56Mn-exposed animals. Lung tissue was severely damaged only by exposure to 56Mn, despite a rather low radiation dose (less than 0.1 Gy). These data suggest that internal exposure to 56Mn has a significant biological impact on the lungs and small intestine.


Subject(s)
Manganese Compounds/adverse effects , Neutrons , Oxides/adverse effects , Radiation Injuries/etiology , Radiation Injuries/pathology , Animals , Male , Nuclear Weapons , Radiation Dosage , Radioactivity , Rats , Rats, Wistar
8.
Iran J Public Health ; 45(11): 1411-1419, 2016 Nov.
Article in English | MEDLINE | ID: mdl-28032058

ABSTRACT

BACKGROUND: External causes of death are still among the main causes of death in the countries of the former Soviet Union. We studied epidemiology of injuries among elderly in a typical Kazakhstani city. METHODS: Data on all injuries among individuals aged 60 yr or older in the city of Semey (former Semipalatinsk) from 2010 to 2012 was collected from medical files. We present absolute numbers and incidence rates for the main ICD-codes in Chapters XIX and XX of ICD-10 by gender, ethnic background and place where the injury occurred. RESULTS: Altogether, there were 6065 injuries in 2010-2012. The overall incidence of increased from 4746.6 per 100000 in 2010 to 5577.7 per 100000 in 2012. Injuries to the elbow and forearm, injuries to the shoulder and upper arm, and injuries to the knee and lower leg were the most common and comprised 17.3%, 15.5% and 14.6% of all injuries, respectively. Falls constituted 82.2% of all injuries. Most injuries occurred at home and among ethnic Russians. CONCLUSION: The incidence and the absolute number of injuries among elderly in Semey increased during the study period in both men and women. Given that the population of Kazakhstan is getting older, injuries are expected to require more attention from the public health professionals and health authorities. More than four-fifths of traumas resulted from falls making this cause of injury the first target for preventive measures.

9.
Saudi J Gastroenterol ; 22(4): 324-30, 2016.
Article in English | MEDLINE | ID: mdl-27488328

ABSTRACT

BACKGROUND: The diagnosis of chronic liver disease (CLD) leading to fibrosis, cirrhosis, and portal hypertension had witnessed dramatic changes after the introduction of noninvasive figure accessible tools over the past few years. Imaging techniques that are based on evaluation of the liver stiffness was particularly useful in this respect. Acoustic radiation force impulse (ARFI) emerged as an interesting figure tool with reliable repute and high precision. AIMS: To evaluate liver stiffness measurement (LSM) and splenic stiffness measurement (SSM) in healthy volunteers as concluded by the ARFI technique and to out a numeric calculated ratio that may reflect their correlation in the otherwise healthy liver. PATIENTS AND METHODS: A ratio (splenic stiffness/liver stiffness in kPa) was determined in 207 consenting healthy subjects and was investigated with respect to age, gender, ethnic origin, body mass index (BMI), liver and spleen sizes healthy volunteers, alanine aminotransferase (ALT), aspartate aminotransferase (AST), platelet count (PLT), APRI, and FIB-4 scores. RESULTS: Data from this work led to computing an index of 4.72 (3.42-7.33) in healthy persons on an average. Females had a higher index than males 6.37 vs 4.92, P=0.002. There was not any significant difference of the ratio in different age groups; ethnic origins; any correlation between SSM/LSM ratio and BMI; liver and spleen sizes; or ALT, AST, PLT, APRI, and FIB-4 scores. CONCLUSIONS: A quantifiable numeric relationship between splenic and liver stiffness in the healthy subjects could be computed to a parameter expressed as SSM/LSM ratio. We believe that this ratio can be a useful reference tool for further researches in CLD.


Subject(s)
Elasticity Imaging Techniques/methods , Liver/diagnostic imaging , Spleen/diagnostic imaging , Adult , Alanine Transaminase/metabolism , Aspartate Aminotransferases/metabolism , Female , Humans , Liver/enzymology , Liver/physiology , Male , Middle Aged , Risk Factors , Spleen/enzymology , Spleen/physiology
10.
Asian Pac J Cancer Prev ; 17(2): 575-9, 2016.
Article in English | MEDLINE | ID: mdl-26925646

ABSTRACT

The aim of this research is to determine the characteristics of endothelial factors and the hemostatic system conditions with malignant neoplasms patients, which were exposed to ionizing radiation. Total number of examined people is 223, 153 of them are patients with gastrointestinal tract oncopathology. The article presents the results of the analysis of numerical indicators of endothelial condition and platelet hemostasis of patients, who had cancer. They lived in the regions of Kazakhstan, subjected to contamination of radionuclides as a result of nuclear weapons tests, which took place in this region from 1949 to 1989. These results then were compared to cancer patients and healthy individuals with no radiation risk. The study revealed the presence of higher levels of endothelial dysfunction and following trigger of the hemostatic system in patients with malignant tumors of the gastrointestinal tract. In particular, the defined high degree of endothelial dysfunction include endothelium- dependent vasodilation, content desquamated endothelial cells in peripheral blood and von Willebrand factor. These indicators have a clear correlation with the degree of disorder of studied parameters of the hemostasis, which can cause the development of thrombotic complications.


Subject(s)
Endothelium, Vascular/pathology , Gastrointestinal Neoplasms/pathology , Radiation, Ionizing , Aged , Case-Control Studies , Endothelium, Vascular/radiation effects , Female , Follow-Up Studies , Gastrointestinal Neoplasms/blood supply , Gastrointestinal Neoplasms/metabolism , Gastrointestinal Neoplasms/radiotherapy , Hemostasis/radiation effects , Humans , Kazakhstan , Male , Middle Aged , Prognosis , von Willebrand Factor/metabolism
11.
Radiat Environ Biophys ; 54(1): 145-149, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25304661

ABSTRACT

The aim of this pilot study was to evaluate possible doses in teeth received by workers of a uranium processing plant, in excess to the natural background dose. For this, the electron paramagnetic resonance dosimetry method was applied. Absorbed doses in teeth from the workers were compared with those measured in teeth from the Stepnogorsk city population and a control pool population from Astana city. The measured tooth samples were extracted according to medical indications. In total, 32 tooth enamel samples were analyzed, 5 from Astana city, Kazakhstan (control population), 21 from the residents of Stepnogorsk city (180 km from Astana city), and 6 from the workers of a uranium processing plant. The estimated doses in tooth enamel from the uranium processing plant workers were not significantly different to those measured in enamel from the control population. In teeth from the workers, the maximum dose in excess to background dose was 33 mGy. In two teeth from residents of Stepnogorsk city, however, somewhat larger doses were measured. The results of this pilot study encourage further investigations in an effort to receiving a final conclusion on the exposure situation of the uranium processing plant workers and the residents of Stepnogorsk city.


Subject(s)
Dental Enamel/chemistry , Radiation Dosage , Adult , Cities , Electron Spin Resonance Spectroscopy , Extraction and Processing Industry , Humans , Kazakhstan , Pilot Projects , Radiation Monitoring/methods , Uranium
12.
Iran J Public Health ; 43(6): 760-8, 2014 Jun.
Article in English | MEDLINE | ID: mdl-26110146

ABSTRACT

BACKGROUND: Kazakhstan, a developing middle-income country, has the highest road traffic collision (RTC) mortality in the European Region. The aims of this study were to determine main characteristics of road traffic fatalities in Semey region, Kazakhstan and to compare findings with National data and middle-income European countries. METHODS: This descriptive surveillance study assesses RTC mortality rates and epidemiology in the Semey Region of East Kazakhstan Oblast. Data of all 318 road traffic fatalities form the Semey Regional Center for Forensic Medicine were analyzed for the 5-year period of January 1, 2006 through December 31, 2010. RESULTS: Over the study period, the average road traffic mortality in the Semey Region was 12.1 per 100,000 population with downward trend by 35.1% (p=0.002). The victims mean age was 37.1 (SD=17) years. Males predominated at 74.5%. Vehicle fatality was the most common mode of fatality at 61.3%. The majority of collisions, 53.1%, occurred on highways. Most victims, 67.3%, have died at the scene of collision; in 67.3% of fatalities, autopsies identified multiple injuries as cause of death. The high number of fatal collisions took place in "no snow" season (P<0.001), with an overall 5-years downward dynamic. CONCLUSION: High proportion of males, pedestrians and car occupants among road traffic fatalities; high proportion of death on scene in case of highway collisions are specifics for Semey region, Kazakhstan. These findings can be used to formulate preventive strategies to reduce fatalities and to improve the medical care system for road traffic fatalities.

13.
Anticancer Res ; 33(9): 4049-59, 2013 Sep.
Article in English | MEDLINE | ID: mdl-24023349

ABSTRACT

AIM: To analyze associations between homocysteine level, MTHFR and FTO rs1477196 polymorphisms and folate status in patients with breast cancer (BC) in order to clarify determinants of hyperhomocysteinemia. PATIENTS AND METHODS: The study included 315 BC cases and 604 controls. RESULTS: The MTHFRC677T genotype was associated with an increased incidence of BC [Odds ratio (OR)=1.71; 95% Confidential interval (CI)=1.21-2.43]. The MTHFR A1298C genotype was associated with a decreased risk of BC [OR=0.68; 95% CI: 0.49-0.95]. The homocysteine level was not associated with either MTHFR C677T or A1298C, nor with FTO rs1477196, but was inversely correlated with folate status in cancer cases (p<0.0001) and tended to be higher in patients with the MTHFR 677TT genotype. The folate level (p<0.0005) was an independent predictor of hyper-homocysteinemia in patients with BC. CONCLUSION: These results suggest an important role of homocysteine in breast tumorigenesis. Further studies are warranted to investigate how combined MTHFR genotypes exert their effects on cancer susceptibility.


Subject(s)
Breast Neoplasms/blood , Breast Neoplasms/genetics , Homocysteine/blood , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Proteins/genetics , Adult , Aged , Alpha-Ketoglutarate-Dependent Dioxygenase FTO , Case-Control Studies , Female , Folic Acid/blood , Humans , Kazakhstan , Middle Aged , Polymorphism, Single Nucleotide
14.
PLoS One ; 8(2): e57524, 2013.
Article in English | MEDLINE | ID: mdl-23469013

ABSTRACT

For the current on-site evaluation of the environmental contamination and contributory external exposure after the accident at the Chernobyl Nuclear Power Plant (CNPP) and the nuclear tests at the Semipalatinsk Nuclear Testing Site (SNTS), the concentrations of artificial radionuclides in soil samples from each area were analyzed by gamma spectrometry. Four artificial radionuclides ((241)Am, (134)Cs, (137)Cs, and (60)Co) were detected in surface soil around CNPP, whereas seven artificial radionuclides ((241)Am, (57)Co, (137)Cs, (95)Zr, (95)Nb, (58)Co, and (60)Co) were detected in surface soil around SNTS. Effective doses around CNPP were over the public dose limit of 1 mSv/y (International Commission on Radiological Protection, 1991). These levels in a contaminated area 12 km from Unit 4 were high, whereas levels in a decontaminated area 12 km from Unit 4 and another contaminated area 15 km from Unit 4 were comparatively low. On the other hand, the effective doses around SNTS were below the public dose limit. These findings suggest that the environmental contamination and effective doses on the ground definitely decrease with decontamination such as removing surface soil, although the effective doses of the sampling points around CNPP in the present study were all over the public dose limit. Thus, the remediation of soil as a countermeasure could be an extremely effective method not only for areas around CNPP and SNTS but also for areas around the Fukushima Dai-ichi Nuclear Power Plant (FNPP), and external exposure levels will be certainly reduced. Long-term follow-up of environmental monitoring around CNPP, SNTS, and FNPP, as well as evaluation of the health effects in the population residing around these areas, could contribute to radiation safety and reduce unnecessary exposure to the public.


Subject(s)
Chernobyl Nuclear Accident , Radioisotopes/analysis , Soil Pollutants, Radioactive/analysis , Ukraine
15.
Croat Med J ; 54(1): 17-24, 2013 Feb.
Article in English | MEDLINE | ID: mdl-23444242

ABSTRACT

AIM: To study the genetic relationship of Kazakhs from East Kazakhstan to other Eurasian populations by examining paternal and maternal DNA lineages. METHODS: Whole blood samples were collected in 2010 from 160 unrelated healthy Kazakhs residing in East Kazakhstan. Genomic DNA was extracted with Wizard genomic DNA Purification Kit. Nucleotide sequence of hypervariable segment I of mitochondrial DNA (mtDNA) was determined and analyzed. Seventeen Y-short tandem repeat (STR) loci were studied in 67 samples with the AmpFiSTR Y-filer PCR Amplification Kit. In addition, mtDNA data for 2701 individuals and Y-STR data for 677 individuals were retrieved from the literature for comparison. RESULTS: There was a high degree of genetic differentiation on the level of mitochondrial DNA. The majority of maternal lineages belonged to haplogroups common in Central Asia. In contrast, Y-STR data showed very low genetic diversity, with the relative frequency of the predominant haplotype of 0.612. CONCLUSION: The results revealed different migration patterns in the population sample, showing there had been more migration among women. mtDNA genetic diversity in this population was equivalent to that in other Central Asian populations. Genetic evidence suggests the existence of a single paternal founder lineage in the population of East Kazakhstan, which is consistent with verbal genealogical data of the local tribes.


Subject(s)
Asian People/genetics , Chromosomes, Human, Y/genetics , DNA, Mitochondrial/genetics , Genetics, Population , Adult , Female , Gene Pool , Genetic Variation , Haplotypes , Humans , Kazakhstan , Microsatellite Repeats , Middle Aged , Polymerase Chain Reaction , Young Adult
16.
Cent Asian J Glob Health ; 2(1): 29, 2013.
Article in English | MEDLINE | ID: mdl-29755871

ABSTRACT

BACKGROUND: A large number of distinct mutations in the BRCA1 and BRCA2 genes have been reported worldwide, but little is known regarding the role of these inherited susceptibility genes in breast cancer risk among Kazakhstan women. AIM: To evaluate the role of BRCA1/2 mutations in Kazakhstan women presenting with sporadic breast cancer. METHODS: We investigated the distribution and nature of polymorphisms in BRCA1 and BRCA2 entire coding regions in 156 Kazakhstan sporadic breast cancer cases and 112 age-matched controls using automatic direct sequencing. RESULTS: We identified 22 distinct variants, including 16 missense mutations and 6 polymorphisms in BRCA1/2 genes. In BRCA1, 9 missense mutations and 3 synonymous polymorphisms were observed. In BRCA2, 7 missense mutations and 3 polymorphisms were detected. There was a higher prevalence of observed mutations in Caucasian breast cancer cases compared to Asian cases (p<0.05); higher frequencies of sequence variants were observed in Asian controls. No recurrent or founder mutations were observed in BRCA1/2 genes. There were no statistically significant differences in age at diagnosis, tumor histology, size of tumor, and lymph node involvement between women with breast cancer with or without the BRCA sequence alterations. CONCLUSIONS: Considering the majority of breast cancer cases are sporadic, the present study will be helpful in the evaluation of the need for the genetic screening of BRCA1/2 mutations and reliable genetic counseling for Kazakhstan sporadic breast cancer patients. Evaluation of common polymorphisms and mutations and breast cancer risk in families with genetic predisposition to breast cancer is ongoing in another current investigation.

17.
Cent Asian J Glob Health ; 2(Suppl): 95, 2013.
Article in English | MEDLINE | ID: mdl-29805854

ABSTRACT

INTRODUCTION: The steroid hormone 1,25-dihydroxyvitamin D3 is thought to protect against breast cancer. The activity of 1,25-dihydroxyvitamin D3 is mediated via the vitamin D receptor (VDR), and a number of polymorphisms in the VDR gene have been identified. These result in distinct genotypes, some of which may alter susceptibility to breast cancer. Two common single nucleotide polymorphisms (SNP) in the VDR gene (VDR), rs1544410 (BsmI) and rs2228570 (FokI), have been inconsistently associated with breast cancer risk. Increased risk has been reported for the FokI ff genotype, which encodes a less transcriptionally active isoform of VDR. A reduced risk has been reported for the BsmI BB genotype which may influence VDR mRNA stability. AIM: We have investigated whether specific VDR gene polymorphisms are associated with breast cancer risk in Kazakhstan women. MATERIAL AND METHODS: In a case-control study, female breast cancer patients (315) and a female control group (n=604) were tested for two VDR polymorphisms. Statistical analysis was conducted using SPSS19.0. RESULTS: : The VDR rs2228570 (FokI) polymorphism was associated with an increased occurence of BC [rs2228570 (folk) ff vs. FF genotype: OR=1.71; 95% CI=1.21-2.43]. No association was noted between rs1544410 (BsmI) BB and breast cancer risk [OR=0.68; 95% CI=0.49-0.95]. CONCLUSION: : Although the factors that increase breast cancer susceptibility remain uncertain, future large studies should integrate genetic variation in VDR with biomarkers of vitamin D status. Additional testing on the effect of varying genotypes on the functional mechanisms of the VDR could help to improve future testing and treatment of woman at risk for breast cancer.

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