scholarly journals Genetic analysis of pharmacogenomic VIP variants in the Wa population from Yunnan Province of China

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Dandan Li ◽  
Linna Peng ◽  
Shishi Xing ◽  
Chunjuan He ◽  
Tianbo Jin

Abstract Background The variation of drug responses and target does among individuals is mostly determined by genes. With the development of pharmacogenetics and pharmacogenomics, the differences in drug response between different races seem to be mainly caused by the genetic diversity of pharmacodynamics and pharmacokinetics genes. Very important pharmacogenetic (VIP) variants mean that genes or variants play important and vital roles in drug response, which have been listed in pharmacogenomics databases, such as Pharmacogenomics Knowledge Base (PharmGKB). The information of Chinese ethnic minorities such as the Wa ethnic group is scarce. This study aimed to uncover the significantly different loci in the Wa population in Yunnan Province of China from the perspective of pharmacogenomics, to provide a theoretical basis for the future medication guidance, and to ultimately achieve the best treatment in the future. Results In this study, we recruited 200 unrelated healthy Wa adults from the Yunnan province of China, selected 52 VIP variants from the PharmGKB for genotyping. We also compared the genotype frequency and allele distribution of VIP variants between Wa population and the other 26 populations from the 1000 Genomes Project (http://www.1000Genomes.org/). Next, χ2 test was used to determine the significant points between these populations. The study results showed that compared with the other 26 population groups, five variants rs776746 (CYP3A5), rs4291 (ACE), rs3093105 (CYP4F2), rs1051298 (SLC19A1), and rs1065852 (CYP2D6) had higher frequencies in the Wa population. The genotype frequencies rs4291-TA, rs3093105-CA, rs1051298-AG and rs1065852-GA were higher than those of the other populations, and the allele distributions of rs4291-T and rs3093105-C were significantly different. Additionally, the difference between the Wa ethnic group and East Asian populations, such as CDX, CHB, and CHS, was the smallest. Conclusions Our research results show that there is a significant difference in the distribution of VIP variants between the Wa ethnic group and the other 26 populations. The study results will have an effect on supplementing the pharmacogenomics information for the Wa population and providing a theoretical basis for individualised medication for the Wa population.

2020 ◽  
Author(s):  
Nima Nima Montazeri-Najafabady ◽  
Mohammad Hossein Dabbaghmanesh ◽  
Abbas Ghaderi ◽  
Nazanin Chatrabnous ◽  
Mohammad Reza Arabnezhad ◽  
...  

Abstract Background: Thyroid cancer is the fifth communal cancer type in females and its occurrence rate continues to rise rapidly worldwide. Latest data demonstrated mir-125 is down-regulated in various cancer types. Methods: a case-control (179 cases, 165 controls) study in order to explore the association of mir-125 rs12976445 with the risk of thyroid cancer in the Iranian population was performed. In order to investigate rs12976445 C/T polymorphisms, polymerase chain reaction restriction–fragment length polymorphism (PCR–RFLP) was done. Logistic regression analyses were done to find the association of mir-125 rs12976445 C/T polymorphisms with thyroid cancer and its stages. Results: The genotype frequencies for patients was [(CC: 81(45.2%), CT: 75(41.9%), TT: 23 (12.9%)], and for controls was [(CC: 100 (60.1%), CT: 53(32.2%), TT: 12 (6.7%)]. The T allele distribution was significantly altered between patients and controls (P=0.002) with the odds ratio of 1.68. In the co-dominant model CC genotype was set as reference and compared with CT, and TT genotypes. In the dominant model, there was a significant difference between CC vs CT genotypes (adjusted OR = 1.69, 95% CI= 1-2.8, P = 0.026), and slightly significant differences between CC vs TT genotypes (adjusted OR = 2.18, 95% CI= 1-4.7, P = 0.047). we compared CT/TT genotype to the reference genotype (CC) and found a highly significant difference (adjusted OR = 1.78, 95% CI= 1.15-2.74, P = 0. 0.009).Conclusion: as the first study, our findings suggest that miR-125a rs12976445 is a possible prognostic biomarker for thyroid cancer patients.


2005 ◽  
Author(s):  
Ελένη Γρίβα

Teachers are being seen as the ultimate key to educational change and school management. Proposals made at the macro-level of educational policy depend for the effectiveness on the interpretation by teachers at the micro-level of pedagogic practice and on their abilities to understand and carry out these proposals. Furthermore, there are indications of a strong demand for qualified professionals to staff classrooms well in the future. Thus, it is reasonable to argue that the need for an effective provision to initiate, develop and sustain teachers through an appropriate process of education consequently should be among the highest priorities of educational policy. The motivation for the study stems from: a) the fact that the establishment of English language teaching in Primary Education has raised new teaching needs and teachers are required to respond to a wide range of demands. However, they have not received the adequate pre-service education and in-service training to meet the pedagogical and teaching demands in the Primary Education context, b) the absence of empirical researches dealing with the specific issue in Greece. The present study, which is limited to Greek primary EFL teachers, represents a descriptive research study in its method and is policy-oriented in its purpose. We tried to identify teachers’ INSET needs, to investigate the nature of the discrepancy between the provision of in-service training and the needs and wants of the targets, to pursue the investigation until we came up with an alternative INSET model framework. The objectives were the following: a) to reveal and shed light on the current INSET provision for EFL teachers in Greece, b) to identify the EFL teachers’ and advisors’ viewpoints concerning INSET organizing and planning, c) to identify the future EFL teachers’ INSET needs as perceived by the teachers themselves and the EFL advisors, d) to suggest a framework of a model for INSET based on the target needs of the EFL teachers, the current status of INSET provision for the EFL teachers and the related literature. More precisely, chapters one, two, three, four, five and six aim to provide a theoretical basis for this study, which, together with the field of study results, will help in the formulation of some new plans. The first chapter concentrates on definition of INSET, the purpose and importance of INSET, the effectiveness of INSET. The second and third chapters review the literature related to the theories and practices of INSET in order to highlight characteristics of effective INSET at the level of teacher behaviour change and improvement of teaching skills. The fourth chapter gives background information concerning the teaching of English language in Greek Primary schools. The fifth chapter describes the state teachers INSET in Greece with specific reference to the education and training of teachers of English as a foreign language and their academic profile. It provides a brief analysis of the policy of teacher preparation in order to highlight the strengths and weaknesses of the present system. The sixth chapter sets out models and forms of INSET. It concerns the content of the INSET programmes and it explores - explains the activities and procedures through which the content of INSET can be transmitted. The seventh chapter identifies and states the problem and presents the significance and objectives of the study. It outlines the type of research and the area of investigation, explains and justifies the methods and the instruments (questionnaires and interviews) of data collection and describes and defines the population and sample. It rationalizes the procedures used in collecting the data and explains the techniques used to analyze and interpret the findings of the study. In the eighth chapter, we present the results of the study, which clarify the nature of the discrepancy between the provision of INSET and the needs and wants of the targets. The findings of the study, which point to an absence of any significant difference in the perceptions of the two groups-teachers and advisors-, indicate the need for a new policy and plans to be established, commencing with the recommended ways of assessing teachers’ INSET needs, and extending to evaluation and feedback into the INSET system. In the ninth chapter INSET recommendations for an improved model for EFL teachers are set out in terms of a discussion of findings. The findings of the present study revealed that there was a gap between the current INSET provided by the ministry of Education and the perceived needs. An interim framework of INSET model, called the Participatory-Collaborative INSET model was designed to fill in the gap.


2018 ◽  
Vol 46 (01) ◽  
pp. 22-28 ◽  
Author(s):  
Serpil Demirbilek ◽  
Nazmiye Gunes ◽  
Gulsen Goncagul ◽  
Ender Uzabacı ◽  
Tayfun Carli ◽  
...  

SummaryObjective: This study aimed to compare different induction of partu -rition (IP) methods in terms of endocrinological and immunological parameters in ewes and lambs.Materials and methods: A total of 24 ewes and their respective 24 lambs were studied. Groups of six ewes were induced on the 138th day: groups I (control), II (dexamethasone), III (aglepristone) and IV (aglepristone + dexamethasone). Blood samples were taken from the ewes from IP to 2 days postpartum at 12-hour intervals for the prolactin and oxytocin analyses. Colostrum and blood samples were collected from the lambs at 0, 12, 24, 36 and 48 hours for the IgG analysis. The prolactin, oxytocin and IgG levels were measured by ELISA. Results: A significant difference was found in prolactin levels in all groups and in the colostral IgG level in group IV with respect to the sampling time. Additionally, a significant difference in prolactin level was found at 24 hours postpartum between group IV and groups I and III. A significant difference in the colostral IgG level was determined at 24 hours after parturition between group III and the other groups and at 48 hours after parturition between groups II and III. A positive and significant correlation between the colostral and serum IgG levels of the lambs was found at 24 hours in groups I and II. Conclusion and clinical relevance: Although varying individual results were found within the groups, the endocrinological and immunological results did not suggest any superiority among the IP methods. Considering the presented study results, a single dose of aglepristone may be used alone or in combination with dexamethasone for I P.


Author(s):  
Беляева ◽  
Elena Belyaeva ◽  
Ершова ◽  
Oksana Ershova

Human glutathione-S-transferases play an important role in phase II detoxification process. But poly-morphism in the GSTP1 gene has not been studied in certain populations.Aim: to determine the distribution of allele and genotype frequencies of GSTP1 gene in teenagers from Buryat ethnic group.Materials and methods. Blood samples were obtained from 55 teenagers from Buryat ethnic group. There were 28 males and 27 females with an age of 14.05±0.99 years over the range of 13 to 16. DNA was isolated from blood samples. The polymerase chain reaction was used to amplify A313G and C341T markers of the GSTP1 gene. Chi-square testing was used to evaluate the significant difference of the GSTP1 genotype frequencies between observed and expected values.Results. Allele and genotype frequencies of A313G and C341T markers GSTP1 were determined in teenagers from Buryat ethnic group. The study showed that the frequencies of A and G alleles at the A313G marker were 0.809 and 0.191 while those of C and T alleles at the C341T marker were 0.973 and 0.027, respectively. The distribution of the genotype frequencies at the A313G marker were consistent with expected in a Hardy–Weinberg equilibrium (χ2=0 .77; d.f.=1; p>0.05). However, the distribution of the genotype frequencies at the C341T marker were not consistent with expected in a Hardy – Weinberg equilibrium (χ2= 0.043; d.f.= 1; p<0.05). It was because the homozygous of T allele was not found in the ethnic group of Buryat.


2020 ◽  
Vol 14 (4) ◽  
Author(s):  
Tamara Valčić Bulić

The success of the novel Suite francaise has again sparked interest for the opus of Irène Némirovsky, an author who wrote during the interwar period and produced around twenty novels and several collections of novellas. The life of Irène Némirovsky (Ирма Ирина Леонидовна Немировская, 1903-1942), a Russian Jew who lived as a stateless immigrant since the Russian Revolution until her tragic death in Auschwitz, has also attracted a lot of public interest. In this paper, our focus is first on the circumstances in which Nemirovska lived and wrote, as they had an essential impact on her fate and the themes that underlie much of her work. After that overview of the work of Irène Némirovsky, the analysis in this paper focuses on the novels in which the themes of exile, nostalgia and lack of belonging  are evident, such as David Golder (David Golder, 1929), Snow in Autumn (Les Mouches d’automne, 1931), The Wine of Solitude (Le Vin de solitude, 1935) and The Dogs and the Wolves (Les Chiens et les Loups, 1940).The theoretical basis for our analysis is found in the study The Future of Nostalgia by Svetlana Boym. In this study, Boym distinguishes between the two main subtypes of nostalgia: restorative and reflective and she identifies their characteristics.  The analysis of the main characters’ actions and feelings in the afore mentioned Nemirovska’s novels show that reflective nostalgia is predominant in them; the characters show contradictory tendencies: on the one hand to fit in and integrate into the society, while on the other they are dominated by anxiety, sorrow and feelings of displacement and lack of belonging.


House mice have been isolated on the small Welsh island of Skokholm since the 1890s, when the island was colonized by a few animals inadvertently brought over from the nearby mainland in sacks. This paper describes a study (by starch gel electrophoresis) of variants at six gene loci in samples from the island population collected at the beginning and end of breeding in two consecutive years. Four mainland mouse populations were sampled for comparison. The Skokholm mice were polymorphic at all six loci, and were segregating for fourteen of the fifteen alleles found in the mainland samples. Three of the six loci on Skokholm indicated the action of natural selection: two showed an increase over the number of heterozygotes expected on the Hardy–Weinberg equilibrium during one season (winter in one case, summer in the other) and a decrease in this excess at another time of year, while the third showed directed selection against mice carrying a particular allele. These changes in allele and genotype frequencies occurred during the first year of the study and were repeated in the second year. Variants at the other three loci indicated the influence of the social structure of the mice on allele distribution, showing that the population was not behaving as a panmictic unit. These results have to be interpreted in terms of the ecology and population dynamics of the island mice. The population size varies considerably: during the winter there is no successful breeding and a mortality of 50 to 90 %, the number dying depending on the mean temperature in early spring; in the summer the population increases tenfold (much less than the increase predicted from knowledge of litter sizes and breeding rates: there must be considerable juvenile mortality). Despite the poverty of genic variation that must have existed in the early stages of colonization on Skokholm, natural selection has acted to increase the variation to a level not very different from that on the mainland.


2021 ◽  
Vol 10 ◽  
Author(s):  
Qimeng Zhang ◽  
Xueying Xu ◽  
Mingcheng Wu ◽  
Tiantian Qin ◽  
Shaoning Wu ◽  
...  

BackgroundHepatocellular carcinoma (HCC) is an intractable public health threat worldwide, representing the second leading cause of cancer-related mortality, with limited early detection and therapeutic options. Recent findings have revealed that the susceptibility of HCC is closely related to microRNA (miRNA). We performed this systematic review with a network meta-analysis to investigated four single nucleotide polymorphisms (SNPs) that most regularly reported in miRNAs, exploring their involvement in HCC susceptibility and interaction with hepatitis B virus (HBV).MethodsDatabases were reviewed for related studies published up to May 2019 to identify all studies that compared genotypes of miR-146a rs2910164, miR-149 rs2292832, miR-196a2 rs11614913, and miR-499 rs3746444 with no language and date restrictions. A pairwise meta-analysis was performed to estimate pooled odds ratios and 95% confidence intervals incorporating heterogeneity to assess the relationship between four miRNA polymorphisms and HCC. To further clarify the effect of polymorphisms on HCC, a Bayesian network meta-analysis was conducted to combine the effective sizes of direct and indirect comparisons. Calculations were performed by R version 3.6.1 and STATA 14.0. All steps were performed according to PRISMA guidelines.ResultsA total of 20 studies were enrolled in this network meta-analysis, providing 5,337 hepatocellular carcinoma cases and 6,585 controls. All included studies had an acceptable quality. Pairwise meta-analysis demonstrated that miR-196a2 rs11614913 was significantly associated with the susceptibility of HCC, while the other three SNPs were not found to have a significant association. In the analysis of HCC patients under different HBV infection status, only miR-196a2 revealed correlation of threefold risk. The network results showed no significant difference in the distribution of genotype frequencies except for miR-196a2, which appeared to have the highest superiority index when comparing and ranking four SNPs.ConclusionMiR-196a2 rs11614913 was significantly associated with the susceptibility of HCC, especially for HBV- related HCC, and that individuals with TC/CC were more susceptible. No significant association was found in the other three miRNA genes. MiR-196a2 could serve as the best predictor of susceptibility in HCC.


2021 ◽  
Vol 4 (5) ◽  
pp. 21410-21425
Author(s):  
Francisca Daniele Jardilino Silami ◽  
Cristian Sbardelotto ◽  
Rafaella Tonani- Torrieri ◽  
Rossana Pereira de Almeida ◽  
Carolina Noronha Ferraz de Arruda ◽  
...  

Objective: This study evaluated the color stability and translucence of resin cements in the fixation of ceramic veneers submitted to aging protocols. Material and Methods: Buccal faces of bovine incisors were planed up to dentin. Eighty ceramic veneers (1 mm) were prepared using two pressed ceramics (IPS e-maxPress and IPS e-maxZirpress, IvoclarVivadent). Before the initial color and translucence readouts (Vita EasyShade, VITA), the veneers were fixed with light (Variolink II, Ivoclar/Vivadent) or dual cured (Relyx U200, 3M ESPE) cements. The samples were submitted (n=10) to thermal mechanical cycling (1.200.000 cycles, 1,3Hz, 5°C/37°C/55°C); and no aging protocol (control). New color and translucence readouts were performed. The cement thickness was quantified by a double coordinate stereomicroscope (Nikon Measurescope) as a control of the study. Results: Data (3-way ANOVA, Tukey, p0,05) showed difference (p0.05) in the color change for both ceramics cemented with U200 with no aging protocol. In the other groups, there was no significant difference (p0.05). There was no difference for translucence regardless ceramics, cements, or aging protocol. Thermal mechanical cycling was not significant for optical changes of the ceramics tested. Conclusions: It was concluded that the color stability and translucence of ceramics with thickness of 1mm were not influenced by the cement when submitted to thermal mechanical cycling. 


1976 ◽  
Vol 41 (4) ◽  
pp. 523-529 ◽  
Author(s):  
Daniel R. Boone ◽  
Harold M. Friedman

Reading and writing performance was observed in 30 adult aphasic patients to determine whether there was a significant difference when stimuli and manual responses were varied in the written form: cursive versus manuscript. Patients were asked to read aloud 10 words written cursively and 10 words written in manuscript form. They were then asked to write on dictation 10 word responses using cursive writing and 10 words using manuscript writing. Number of words correctly read, number of words correctly written, and number of letters correctly written in the proper sequence were tallied for both cursive and manuscript writing tasks for each patient. Results indicated no significant difference in correct response between cursive and manuscript writing style for these aphasic patients as a group; however, it was noted that individual patients varied widely in their success using one writing form over the other. It appeared that since neither writing form showed better facilitation of performance, the writing style used should be determined according to the individual patient’s own preference and best performance.


2019 ◽  
Vol 24 (4) ◽  
pp. 312-321 ◽  
Author(s):  
Diana Moreira ◽  
Fernando Barbosa

Abstract. Delay discounting (DD) is the process of devaluing results that happen in the future. With this review, we intend to identify specificities in the processes of DD in impulsive behavior. Studies were retrieved from multiple literature databases, through rigorous criteria (we included systematic reviews and empirical studies with adult human subjects), following the procedures of the Cochrane Collaboration initiative. Of the 174 documents obtained, 19 were considered eligible for inclusion and were retained for in-depth analysis. In addition, 13 studies from the manual search were included. Thus, a total of 32 studies were selected for review. The objectives/hypotheses, results, and the main conclusion(s) were extracted from each study. Results show that people with pronounced traits of impulsivity discount rewards more markedly, that is, they prefer immediate rewards, though of less value, or postponed losses, even though they worsen in the future. Taken together, the existing data suggest the importance of inserting DD as a tool for initial assessment in conjunction with measures of addiction and stress level, as well as the consideration of new therapies.


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