ObjectiveRisk for developing papillary thyroid carcinoma (PTC), the most common endocrine malignancy, is thought to be mediated by lifestyle, environmental exposures and genetic factors. Recent progress in the genome-wide association studies of thyroid cancer leads to the identification of several genetic variants conferring risk to this malignancy across different ethnicities. We set out to elucidate the impact of selected single nucleotide polymorphisms (SNPs) on PTC risk and to evaluate clinicopathological correlations of these genetic variants in the Kazakh population for the first time.MethodsEight SNPs were genotyped in 485 patients with PTC and 1,008 healthy control Kazakh subjects. The association analysis and multivariable modeling of PTC risk by the genetic factors, supplemented with rigorous statistical validation, were performed.ResultFive of the eight SNPs: rs965513 (FOXE1/PTCSC2, P = 1.3E-16), rs1867277 (FOXE1 5’UTR, P = 7.5E-06), rs2439302 (NRG1 intron 1, P = 4.0E-05), rs944289 (PTCSC3/NKX2-1, P = 4.5E-06) and rs10136427 (BATF upstream, P = 9.8E-03) were significantly associated with PTC. rs966423 (DIRC3, P = 0.07) showed a suggestive association. rs7267944 (DHX35) was associated with PTC risk in males (P = 0.02), rs1867277 (FOXE1) conferred the higher risk in subjects older than 55 years (P = 7.0E-05), and rs6983267 (POU5F1B/CCAT2) was associated with pT3–T4 tumors (P = 0.01). The contribution of genetic component (unidirectional independent effects of rs965513, rs944289, rs2439302 and rs10136427 adjusted for age and sex) to PTC risk in the analyzed series was estimated to be 30–40%.ConclusionGenetic factors analyzed in the present work display significant association signals with PTC either on the whole group analysis or in particular clinicopathological groups and account for about one-third of the risk for PTC in the Kazakh population.
Background: The recent genome-wide association studies (GWAS) including FOXE1 and NKX2-1 genes have represent associations for well differentiated thyroid carcinoma. Replication studies in geographically distinct populations identified strong associations of rs965513 (9q22.33) and rs944289 (14q13.3) SNPs with papillary thyroid cancer. This work is the first to characterise the associations of SNPs in a population-based Kazakh cohort.Aims: To study association of SNPs with risk for sporadic papillary thyroid carcinoma (PTC) in Kazakh population.Materials and methods: A total of 298 patients with histologically confirmed PTC and 742 controls of Kazakh origin were recruited. All participants donated a peripheral venous blood sample which was used to isolate genomic DNA. Genotyping was performed using TaqMan Genotyping on a Light Cycler 480 (Roche, Indianapolis, IN).Results: Significant associations: rs965513 (p=3.24 E-16; OR=2.05, 95% CI 1.82−2.11) and rs944289 (p=1.38 E-06; OR=1.39, 95% CI 1.21−1.52) were found in the multiplicative model of inheritance adjusted for age and sex.Conclusions: Our study unambiguously confirms the existence of genetic determinants of susceptibility to PTC in Kazakh population.
Introduction. In the last decade several population studies on the association of the genes NKX2-1 and FOXE1 with sporadic papillary thyroid cancer were conducted. In the Kazakh population of similar work to date were not conducted. The aim of this study was to study the genetic association of the FOXE1 (rs9655313) and NKX2-1 (rs944289) oncomarkers with papillary thyroid cancer in the Kazakh population. Materials and methods. We conducted a case-control study that allows us to retrospectively evaluate the association of NKX2-1 and FOXE1 genes and papillary thyroid cancer. Results. The frequency distribution of FOXE1 rs965513 polymorphism in the group of papillary thyroid cancer and the control group detected by healthy individuals was significantly different (χ2 = 100.09, D.f. = 2, p = 0.000). In the group of cases, the AA genotype (17.5%) was in three times more often compared with the control group (5.1%). The GG variant had a lower frequency in the group of persons of papillary thyroid cancer (37.9%) against the control group (61.4%), the odds ratio (OR) in the FOXE1 rs965513 group was 2.367. The distribution of the NKX2-1 (rs944289) polymorphism frequencies in the compared groups of values were significantly different (χ2 = 100.09, D.f. = 2, p = 0.000). In the group of cases, the genotype of TT (30.5%) against the control group (20.7%) was 1.5 times more common. The SS variant had a lower frequency of occurrence in the group of persons of papillary thyroid cancer (19.8%) against the control group (28.9%), OR in NKX2-1 (rs944289) group was 1.46. Conclusion. Carrying out screening for carriers of FOXE1 rs965513 and NKX2-1 (rs944289) can become an effective means of early diagnosis with a high frequency of its spread and associations with cases of papillary thyroid cancer in the Kazakh population.
Relevance: Burnout syndrome in medical staff is a sensitive topic of health care, as this condition can directly affect treatment and care, that is, the patient’s satisfaction with the medical service and the psychological state of the medical staff as a whole. Burnout syndrome includes several risk factors that can directly affect the spread of this syndrome. Thus, the psychological state of medical personnel and the prevention of burnout syndrome is an important healthcare aspect. The purpose of the study was to review the literature on the spread, risk factors, and prevention of burnout syndrome in medical staff. Methods: The research for papers was made using the PubMed, Cochrane Library, Medscape, CINAHL, and Google Scholar search engines, e-Library.ru and CyberLeninka electronic libraries. Inclusion criteria: search depth of 10 years (2012-2022), original articles, literature reviews, meta-analyses and systematic reviews, open-access full-text articles in English and Russian. Exclusion criteria: low-quality articles not meeting the search criteria or containing unclear information and conclusions, reports, abstracts, and newspaper articles. In total, the review included 47 articles. Results: The literature review showed that burnout syndrome among medical staff is spreading every year and requires high-quality prevention methods. Conclusion: The literature review showed that emotional burnout syndrome among medical workers is a global problem and has become one of the most noticeable issues in healthcare. From the point of risk factors, professional factors rank first, followed by social, physiological, and other factors. The reviewed foreign and domestic publications insufficiently study the burnout syndrome prevention measures and their efficacy.
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