scholarly journals Interleukin-18 Polymorphisms Impose Considerable Impacts on Ankylosing Spondylitis Occurrence

2020 ◽  
Author(s):  
Wenlong Gou ◽  
Hai Wang ◽  
Yu Wang ◽  
Quanyin Du ◽  
Ziming Wang

Abstract Background: This research was conducted to explore the genetic association of interleukin-18 (IL-18) polymorphisms in promoter with ankylosing spondylitis (AS) in Chinese population using a case-control design.Methods: Polymerase chain reaction (PCR) and sequencing were used to complete the genotyping of IL-18 polymorphisms in 146 AS patients and 134 healthy controls. The genotype distribution of polymorphism was detected the status of Hardy-Weinberg equilibrium (HWE). The genotype and allele frequencies difference between the two groups was compared by chi-square test. Odds ratio (OR) with 95% confidence interval (95%CI) was calculated to express the association strength of AS. The linkage disequilibrium of IL-18 polymorphisms was investigated in AS occurrence by Haploview.Results: TT genotype and T allele of rs1946518 showed the significantly higher frequencies in AS patients than that of the controls (P=0.042, 0.026), which indicated that rs1946518 was obviously associated with AS risk (TT vs. GG: OR=1.993, 95%CI=1.021-3.891; T vs.G: OR=1.460, 95%CI=1.046-2.038). However, no significant association was found between rs187238 and AS. Moreover, the strong linkage disequilibrium was found and haplotype rs1946518T-rs187238C was a susceptible factor of AS (OR=1.638, 95%CI=1.017-2.639).Conclusion: IL-18 rs1946518 polymorphism may contribute to the susceptibility of individuals to AS in Chinese population, but not another polymorphism rs187238. The interaction of the two polymorphisms should be considered in AS etiology.

2020 ◽  
Author(s):  
Hong Qu ◽  
Yongfang Chen ◽  
Wenjing Zeng ◽  
Xiaohua Huang ◽  
Shuqin Cheng

Abstract Background: This research aimed to explore the genetic association of Toll-like receptor 2 (TLR2) gene polymorphisms with acute myelocytic leukemia (AML) susceptibility in Chinese population.Methods: Firstly, the genotypes of TLR2 polymorphism were detected in 148 AML patients and 126 healthy controls by polymerase chain reaction (PCR). The genotype distribution of every polymorphism in the control group was detected whether conformed to Hardy-Weinberg equilibrium (HWE). The genotype frequency difference of TLR2 polymorphism between the case and control groups was compared by chi-square test and odds ratio (OR) with 95% confidence interval (95%CI) was calculated to express the risk of AML resulted from genetic variant of TLR2.Results: For TLR2 rs3804099 polymorphism, the heterozygous genotype TC was detected the significantly lower frequency in AML patients than that in the controls (P=0.031), so was C allele (P=0.021), which showed that rs3804099 was associated with the decreased the risk of AML (OR=0.580, 95%CI=0.354-0.953; OR=0.641, 95%CI=0.438-0.938). Similarly, GG genotype and G allele of rs1898830 also showed the obviously association with the risk reduction of AML (GG vs. AA: OR=0.430, 95%CI=0.200-0.924, G vs. A: OR=0.644, 95%CI=0.451-0.919). However, no significant association was found in rs7656411 with AML.Conclusions: TLR2 rs3804099 and rs1898830 polymorphisms may be the protective factors for AML, but not rs7656411.


2017 ◽  
Vol 57 (1) ◽  
pp. 34-47 ◽  
Author(s):  
Dagmar Nemček

SummaryThe aim of the study was to determine the status of SE in people with physical disabilities (PwPD) and compare SE scores between active and inactive individuals. The sample of PwPD (n = 186) was divided into two groups of those who are regularly participating in sport (active; n = 88) and those who are not participating in any sport in their leisure (inactive; n = 98). The Rosenberg Self-Esteem Scale (RSES) was used as a primary research method. 10-item scale measures global self-worth by measuring positive and negative feelings about the self. Higher scores (from 10 to 40 points) indicate higher SE. The Pearson chi-square test was used to determine the differences of 10 RSES items and total scores between active and inactive PwPD. We found that the mean score of RSES in PwPD was 28.83 points; active PwPD observed total score of RSES 30.01 points and group of inactive PwPD showed the lowest SE by achieving 27.76 points. Mean scores comparison of each RSES item between active and inactive PwPD revealed higher SE in the group of active PwPD. Significantly higher SE was presented by 4 from 10 RSES items and by total score in the group of active PwPD. The results of our study confirmed that actively living PwPD have significantly higher SE comparing those PwPD who are living sedentary life style.


2020 ◽  
Vol 11 (1) ◽  
pp. 65-75
Author(s):  
Usep Rusependhi ◽  
Diah Mulyawati Utari

Babies born at LBW (Low Body Event) are at risk of disrupting the growth and development of the baby, as well as the occurrence of hypertension, heart disease and diabetes in old age. One of the factors causing LBW is the condition of CED (Chronic Energy Deficiency) experienced by mothers during pregnancy. The highest prevalence of LBW in Kuningan Regency in 2018 is in the working area of the Manggari Community Health Center, which is 11.8% with the prevalence of pregnant women CED 10.1%. The purpose of this study was to determine the relationship of maternal CED status during pregnancy with LBW events. The study design uses case control from cohort registers of pregnant women. The total sample of the study were 114 infants, consisting of 38 cases and 76 controls who met the inclusion and exclusion criteria. The results of the statistical analysis of the Chi-Square test, obtained p value = 0.002 and OR = 4.317 (95% CI: 1.776-10.495) which means that there is a significant relationship between the status of CED during pregnancy with LBW events, where pregnant women CED risk 4.317 times higher for LBW delivery compared to pregnant women who are not CED. The conclusion of this study is that there is a relationship between the status of CED of mothers during pregnancy with the incidence of LBW.


2018 ◽  
Vol 5 (1) ◽  
pp. 16-22
Author(s):  
Jaenudin ◽  
Sandi Aprianto ◽  
Citra Setyo Dwi Andini

Background: Garbage is something material or solid objects that is no used by humans. The impact or risk of improper handling of garbage can cause to environmental damages that can cause health problems and disesase, one of them is diarrhea disease. According to the health profile of West Java Province (2012) showed that the 1.906.886 diarrhea incidence. Cirebon City is ranked ninth with 88,702 diarrhea incidence. Purpose: The purpose of this research is to know the relationship of waste management with the incidence of diarrhea In Argasunya Village Cirebon City. Method: This research used descriptive correlation with kohort retrospekif approach. The population in this study that is all the people who suffer from diarrhea in the Argasunya Village with 72 respondents. The sample in this study using total sampling with 72 respondents who suffer from diarrhea. The research instrument used the observation sheet of waste management and the result of the status of the patient according the medical record data in Sitopeng Public Health Center. The analysis used univariate and bivariate used Chi Square test. Result: The result of univariate analysis showed that most of the waste management did not fulfill the requirement of 59 respondents (81,9%) and most of the acute diarrhea was 62 respondents (86,1%). There was no significant relationship of waste management with the incidence of diarrhea In Argasunya Village Cirebon City, p-value = 0,677.


2019 ◽  
Vol 18 (1) ◽  
Author(s):  
Arsène Jacques Y. H. Fassinou ◽  
Come Z. Koukpo ◽  
Razaki A. Ossè ◽  
Fiacre R. Agossa ◽  
Roseric Azondékon ◽  
...  

Abstract Background Changes in the natural habitats of insect groups are determined the genetic polymorphisms between individuals. The objective of this study was to establish the genetic structure of the Anopheles coluzzii populations in four localities of Benin. Methods Insecticide surveys and larval sampling were conducted on 4 study localities, including Cotonou, Ketou, Zagnanado, and Sô-Ava. Molecular characterizations were performed on the Anopheles mosquitoes collected with the allelic and genotypic frequencies of kdr gene determined. The multiple comparison Chi square test for proportions was performed with R version 3.3.3. Next, the observed heterozygosity, expected heterozygosity, and indices of fixation, and genetic differentiation were estimated. Finally, the Hardy–Weinberg equilibrium (EHW) was determined to assess whether panmixia exists in the different populations of mosquitoes of the agroecological zones under study. Results Carbamates, pyrethroids, organophosphorus and organochlorines use have been reported in all localities except Sô-Ava. Anopheles coluzzii was strongly represented across all study localities. The L1014F allele was observed in the localities of Kétou, Cotonou and Zagnanado. Likewise, insecticide selection pressure of homozygous resistant individuals (L1014F/L1014F) was significantly higher in Kétou, Cotonou and Zagnanado (p value < 0.05). Surprisingly in Sô-Ava, a relatively high frequency of the L1014F allele despite the reported absence of pesticide use was observed. All mosquito populations were found to be deficient in heterozygosity across the study sites (FIS< 0). No genetic differentiation (FST< 0) was observed in the localities of Zagnanado and Kétou. Conclusion The survey on the use of insecticides showed that insecticide selection pressures differ across the investigated localities. It would be desirable to rotate or apply formulations of combined products with different modes of action. Doing so would enable a better management of resistant homozygous individuals, and mitigate the resistance effect of commonly used insecticides.


2020 ◽  
Vol 47 (1) ◽  
pp. 65-71 ◽  
Author(s):  
Marjorie Ayumi Omori ◽  
Jennifer Tsi Gerber ◽  
Guido Artemio Marañón-Vásquez ◽  
Mirian Aiko Nakane Matsumoto ◽  
Suyany Gabriely Weiss ◽  
...  

Objective: To investigate the association of genetic markers in ESR1 and ESR2 with craniofacial measurements. Design: Cross-sectional study. Setting: School of Dentistry of Ribeirão Preto, University of São Paulo. Participants: A total of 146 biologically unrelated, self-reported Caucasian Brazilians with no syndromic conditions were included. Methods: Sagittal and vertical measurements (ANB, S-N, Ptm’-A’, Co-Gn, Go-Pg, N-Me, ANS-Me, S-Go and Co-Go) from lateral cephalograms were examined for craniofacial evaluation. DNA was extracted from saliva and genetic markers in ESR1 (rs2234693 and rs9340799) and in ESR2 (rs1256049 and rs4986938) were analysed by real-time polymerase chain reaction. Hardy–Weinberg equilibrium was evaluated using the Chi-square test within each marker. The associations between craniofacial dimensions and genotypes were analysed by linear regression and adjusted by sex and age. The established alpha was 5%. Results: Individuals carrying CC in ESR1 rs2234693 had a decrease of –3.146 mm in ANS-Me ( P = 0.044). In addition, rs4986938 in ESR2 was associated with S-N measurement ( P = 0.009/ ß = –3.465). This marker was also associated with Go-Pg measurement, in which the CC genotype had a decrease of –3.925 mm in the length of the mandibular body ( P = 0.043). Conclusion: The present study suggests that in ESR1 and ESR2 are markers for variations in the craniofacial dimensions. However, further research should confirm the results.


2020 ◽  
pp. 112067212090466
Author(s):  
Lan Li ◽  
Ying Juan Cui ◽  
Yunchun Zou ◽  
Liyuan Yang ◽  
Ximin Yin ◽  
...  

Purpose: The aim of this study is to investigate whether SOX2 gene variants were associated with high myopia in a Chinese population. Methods: This study is conducted using case-control association analysis. This study recruited 83 healthy controls (with binocular spherical equivalent between –0.50 and +0.50 D) and 117 high myopia cases (spherical equivalent > –6.00 D in both eyes). Three single-nucleotide polymorphisms were selected from HapMap database for genotyping by direct sequencing. Statistical software (SPSS 22.0) was used for statistical analysis. The chi-square test was used to examine the difference in the frequency between cases and controls. Results: Genotype distributions in the three single-nucleotide polymorphisms were all in accordance with the Hardy–Weinberg equilibrium. The differences of rs4575941 locus genotype frequency and allele frequency between the case group and the control group were statistically significant (p = .043 and p = .029, respectively). The rs4575941 allele G frequency in the high myopia group was significantly higher than that in the control group with an odds ratio value of 1.579. However, the value of a chi-square test for the trend was 0.029, and after Bonferroni test, the p value was .087. Conclusion: In Chinese population, rs4575941 in SOX2 gene was likely to play some roles in the genetic susceptibility to high myopia; the rs4575941 allele G might be a risk gene for high myopia.


2013 ◽  
Vol 6 (2) ◽  
pp. 163 ◽  
Author(s):  
Robert Wamala ◽  
Vincent A. Ssembatya

Doctoral holders are considered to be key actors in the creation of innovation and knowledge. However, this generalization may not hold true for doctoral holders in all countries. This study sought to assess the scholarly productivity of these highly qualified individuals in Uganda. The investigation is based on data sourced from the 2012 Careers and Productivity of Doctoral Holders (CDH) Survey conducted in the country. The data adopted comprise a total of 534 records of doctoral holders who were 70 years or younger by 2010 and living permanently or domiciled in Uganda. Journal Article(s) and book(s) (co)authored were adopted in this study as measures of productivity of a doctoral holder. The status and pattern of (co)authored journal article(s) and/or book(s) were assessed by doctoral holder characteristics using the Pearson Chi-square Test and Complementary Log-log regression. The number of (co)authored journal articles and books (including book chapters and monographs) was assessed by doctoral holder characteristics using the Kruskal-Wallis test and Poisson regression. In the results, the proportion of doctoral holders (29.2%) who had (co)authored journal article(s) and/or book(s) by the time of the study points to low scholarly productivity of these highly qualified individuals in the country. Though doctoral graduates of other African universities and those from international universities were more likely to have (co)authored article(s) and/or book(s), the number of (co)authored articles was significantly higher among graduates of Ugandan institutions. Further, the number of (co)authored articles was significantly higher among the males and doctoral holders who graduated before 2000. However, no significant variations in the number of (co)authored books were noted among doctoral holder characteristics. Nevertheless, the low scholarly productivity of doctoral holders in Uganda is certainly a mirror reflection of the situation in many developing countries.


2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 2063-2063
Author(s):  
J. Liu ◽  
K. Qu ◽  
Y. Ren ◽  
A. Sferruzza ◽  
R. A. Bender

2063 Background: The hepatic isoform 1A1 of uridine diphosphate glucuronosyltransferase (UGT) is responsible for glucuronidation and detoxification of SN-38, the active metabolite of irinotecan. The presence of an additional TA repeat in the TATA sequence of the UGT1A1 gene is a common polymorphism, leading to a significant decrease in SN-38 glucuronidation. Patients with the UGT1A1 (TA)7 allele (either [TA]6/7 or [TA]7/7 ) are more likely to experience severe neutropenia and diarrhea following irinotecan chemotherapy. We assessed the distribution of the UGT1A1 (TA) polymorphism in Caucasian and Asian subjects. Methods: We used a fluorescent PCR-based assay to detect UGT1A1 (TA) polymorphisms in 129 healthy subjects (52 Caucasian, 34 Chinese, 36 Filipino, and 7 Japanese). The chi-square test was used to assess between-group differences in the distribution of UGT1A1 (TA) genotypes. Results: UGT1A1 (TA) genotype distribution differed significantly between Caucasian and Asian subjects (P = 0.003). The UGT1A1 (TA)6/7 and (TA)7/7 genotypes were more common in Caucasians than Asians. Genotype distributions did not differ significantly between men and women in either group ( Table ). Conclusions: The frequency of the deleterious UGT1A1 (TA)7 polymorphism was greater in Caucasians than in Asians; genotype frequencies were consistent with previous reports. In both groups, UGT1A1 (TA) genotype distributions were similar in men and women. [Table: see text] No significant financial relationships to disclose.


Sign in / Sign up

Export Citation Format

Share Document