scholarly journals ASSOCIATION BETWEEN POLYMORPHISMS IN CYTOKINE IL7 GENE AND CMV IN RENAL FAILURE PATIENTS IN DIYALA PROVINCE

2021 ◽  
Vol 03 (02) ◽  
pp. 36-43
Author(s):  
Ibtihal Hameed MOHSIN ◽  
Ibtesam Badday HASSAN ◽  
Mohammed Abdul Daim SALEH
Keyword(s):  
Renal Failure ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Ibn Sina ◽  
Kidney Dialysis ◽  
Molecular Tests ◽  
Hospital Patients ◽  
Genetic Sequences

Background: The human cytomegalovirus (HCMV) is an important human pathogen primarily affecting immunocompromised patients, like Renal failure patients, transplant recipients or HIV-infected individuals. Renal failure diesease is a wide dissemination among kidney patients in Ba'quba City. Aim: the study was carried out to detect the HCMV and detection of several single nucleotide polymorphisms (SNP) in IL7 among100 patient suffering from acute or chronic renal failure whom admitted to Ibn Sina Center for kidney Dialysis in Baquba Teaching Hospital. Patients and Methods: This study was conducted for the period from 1/12/2019 to 15/6/2020 in Baquba city in Iraq, with age ranged between (13-76) years. The samples were diagnosed by serological and molecular tests. Results: The obtained results showed that HCMV antibody was detected in renal failure patients by ELISA IgG (100%) while IgM were (15.0%) . Also, Distribution of genotypes for the (IL7) rs7007634 gene samples of renal failure patients 15 out of 20, Chi-Square (9.375) investigated samples (P value 0.002) . The alignment results of the 323 bp samples revealed the presence of one genetic variation variably distributed in some of the analyzed samples in comparison with the referring IL7 genetic sequences. Distribution of genotypes of the rs7007634(IL7)gene in renal failure patient samples according to CMV infection 12 sample infection in CMV and 3 sample without CMV.

scholarly journals Sex Differences in Circadian Clock Genes and Myocardial Infarction Susceptibility

2021 ◽  
Vol 8 (5) ◽  
pp. 53
Author(s):  
Ivana Škrlec ◽  
Jasminka Talapko ◽  
Martina Juzbašić ◽  
Robert Steiner
Keyword(s):  
Myocardial Infarction ◽  
Cardiovascular Disease ◽  
Circadian Rhythm ◽  
Single Nucleotide Polymorphisms ◽  
Clock Genes ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Biological Sex ◽  
Significant Difference

The growing body of evidence shows a significant difference in the circadian rhythm of cardiovascular disease based on biological sex. The incidence of cardiovascular disease varies between women and men. Additionally, biological sex is vital for the timely application of therapy—chronotherapy, which benefits both sexes. This study aimed to examine the potential difference of single nucleotide polymorphisms (SNPs) of the circadian rhythm genes ARNTL, CLOCK, CRY2 and PER2 in women and men with myocardial infarction. A cross-sectional study was conducted, including 200 patients with myocardial infarction. Altogether, ten single nucleotide polymorphisms in the ARNTL, CLOCK, CRY2 and PER2 genes were analyzed. The Chi-square test yielded statistically significant differences in CLOCK gene rs11932595 polymorphism in a recessive genotype model between women and men with a p-value of 0.03 and an odds ratio 2.66, and a corresponding 95% confidence interval of 1.07 to 6.66. Other analyzed polymorphisms of the circadian rhythm genes ARNTL, CRY2, and PER2 did not significantly differ between the sexes. According to the study’s current results, the CLOCK gene’s genetic variability might affect myocardial infarction concerning biological sex.

scholarly journals Avaliação das Variantes Genéticas dos Genes AMELX e ENAM na Cárie Dentária em Adolescentes

2021 ◽  
Vol 24 (5-esp.) ◽  
pp. 650-654
Author(s):  
Gabriela Paschoalini Romagni ◽  
Paula Marino Costa ◽  
Sandra Mara Maciel ◽  
Maria Paula Jacobucci ◽  
Regina Célia Poli-Frederico
Keyword(s):  
Genetic Component ◽  
World Health ◽  
Caries Experience ◽  
Nucleotide Polymorphisms ◽  
Chi Square ◽  
Single Nucleotide ◽  
Significance Level ◽  
Exact Test ◽  
Polymerase Chain ◽  
Health Organization

A doença cárie é considerada, atualmente, como biofilme sacarose dependente, entretanto, estudos recentes apontam que fatores genéticos também podem influenciar seu desenvolvimento. Variantes nos gene amelogenina (AMELX) e enamelina (ENAM), responsáveis pela formação do esmalte, têm sido propostas como potencialmente envolvidos na doença. O objetivo deste estudo foi avaliar se a ocorrência de cárie dentária em adolescentes está relacionado às variantes nos genes AMELX e ENAM. Para a avaliação da prevalência de cárie foi utilizado o índice de dentes cariados, perdidos e obturados (CPO-D), segundo critérios da Organização Mundial de Saúde. As amostras de DNA foram extraídas das células da mucosa oral. Para a análise dos polimorfismos de nucleotídeo único (SNPs) dos genes AMELX (rs17878486) e ENAM (rs7671281) foi utilizada  a técnica de amplificação de fragmentos de DNA pela reação em cadeia da polimerase foi realizada (PCR) em tempo real pelo sistema TaqMan (Applied Biosystems, Foster City, EUA). Para a análise estatística, foi utilizado o teste exato de Fisher e qui-quadrado com nível de significância de 5%. Apenas os fatores socioeconômicos influenciaram a experiência de cárie. Concluiu-se que o componente genético, na população deste estudo, não influenciou o desenvolvimento da cárie.   Palavras-chave: Polimorfismo genético. Adolescentes. Esmalte.   Abstract Caries disease is currently considered a sucrose-dependent biofilm, however recent studies indicate that a genetic component can also influence its development. Variants in the amelogenin (AMELX) and enamelin (ENAM) genes, responsible for the enamel formation, have been proposed as potentially involved in the disease. The purpose of this study was to evaluate whether the occurrence of dental caries in adolescents is related to variants in the AMELX and ENAM genes. To assess the caries prevalence, the index of decayed, missing and filled teeth (DMFT) were used, according to World Health Organization criteria. DNA samples were extracted from oral mucosa cells. For the analysis of single nucleotide polymorphisms (SNPs) of the AMELX (rs17878486) and ENAM (rs7671281) genes, the amplifying DNA fragments technique  by the polymerase chain reaction was performed (PCR) in real time by the TaqMan system (Applied Biosystems, Foster City, USA). For the statistical analysis, Fisher's exact test and chi-square were used with a 5% significance level. Only socioeconomic factors influenced the caries experience. It was concluded that the genetic component in the population of this study, did not influence the development of caries.   Keywords: Genetic polymorphism. Adolescents. Enamel.

scholarly journals Association of single-nucleotide polymorphisms in the ESR2 and FSHR genes with poor ovarian response in infertile Jordanian women

2021 ◽  
Vol 48 (1) ◽  
pp. 69-79
Author(s):  
Amer Mahmoud Sindiani ◽  
Osamah Batiha ◽  
Esra’a Al-zoubi ◽  
Sara Khadrawi ◽  
Ghadeer Alsoukhni ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Statistical Significance ◽  
Ovarian Response ◽  
Control Group ◽  
P Value ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Poor Ovarian Response ◽  
Single Nucleotide ◽  
Number Of Patients

Objective: Poor ovarian response (POR) refers to a subnormal follicular response that leads to a decrease in the quality and quantity of the eggs retrieved after ovarian stimulation during assisted reproductive treatment (ART). The present study investigated the associations of multiple variants of the estrogen receptor 2 (ESR2) and follicle-stimulating hormone receptor (FSHR) genes with POR in infertile Jordanian women undergoing ART.Methods: Four polymorphisms, namely ESR2 rs1256049, ESR2 rs4986938, FSHR rs6165, and FSHR rs6166, were investigated in 60 infertile Jordanian women undergoing ART (the case group) and 60 age-matched fertile women (the control group), with a mean age of 33.60±6.34 years. Single-nucleotide polymorphisms (SNPs) were detected by restriction fragment length polymorphism and then validated using Sanger sequencing.Results: The p-value of the difference between the case and control groups regarding FSHR rs6166 was very close to 0.05 (p=0.054). However, no significant differences were observed between the two groups in terms of the other three SNPs, namely ESR2 rs1256049, ESR2 rs4986938, and FSHR rs6165 (p=0.561, p=0.433, and p=0.696, respectively).Conclusion: The association between FSHR rs6166 and POR was not statistically meaningful in the present study, but the near-significant result of this experiment suggests that statistical significance might be found in a future study with a larger number of patients.

scholarly journals Gambaran Pendekatan Model Copa pada Perawat Pelaksana di Rumah Sakit Abdul Manap Kota Jambi

2020 ◽  
Vol 20 (1) ◽  
pp. 329
Author(s):  
Dwi Yunita Rahmadhani
Keyword(s):  
Patient Safety ◽  
Sampling Technique ◽  
Workforce Training ◽  
Bivariate Analysis ◽  
P Value ◽  
Analysis Model ◽  
Chi Square ◽  
Cross Sectional ◽  
Hospital System ◽  
Hospital Patients

The safety of hospital patients is the hospital system to make patient care safer. Safe from the possibility of the risk of Patient Safety Incidents (IKP). One that can override the Model COPA patient safety is requesting more competent, safe practices, verified by examination performance. This study used a descriptive correlation design with cross sectional approach. The goal is to obtain COPA analysis model approach and the determinant factors of nurses with patient safety. The population is all nurses in inpatient hospital Abdul Manap city of Jambi. The number of samples in this study were 50 nurses using total sampling technique. In the bivariate analysis, obtained variables skills assessment and intervention, communication, critical thinking, human caring and relations of social, management, leadership, teaching and integration of science, gender, type of education, length of work, married status, employment status, accreditation campus, GPA, there is a significant association with patient safety with p-value <0.005. Meanwhile, to test each dependent variable and independent variables used chi square test. Multivariate analysis using logistic regression. For that to hospitals in hiring the necessary consideration in terms of the skill factor, for workforce training nurses for patient safety and hospital complements the SPO and equipment less.

scholarly journals Polymorphisms in RAS/RAF/MEK/ERK Pathway Are Associated with Gastric Cancer

Genes ◽  
2018 ◽  
Vol 10 (1) ◽  
pp. 20 ◽  
Author(s):  
Patricio Gonzalez-Hormazabal ◽  
Maher Musleh ◽  
Marco Bustamante ◽  
Juan Stambuk ◽  
Raul Pisano ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Additive Model ◽  
P Value ◽  
Erk Pathway ◽  
Nucleotide Polymorphisms ◽  
Functional Effect ◽  
Cellular Functions ◽  
Single Nucleotide ◽  
Gastric Cancer Patients ◽  
Control Study

The RAS/RAF/MEK/ERK pathway regulates certain cellular functions, including cell proliferation, differentiation, survival, and apoptosis. Dysregulation of this pathway leads to the occurrence and progression of cancers mainly by somatic mutations. This study aimed to assess if polymorphisms of the RAS/RAF/MEK/ERK pathway are associated with gastric cancer. A case-control study of 242 gastric cancer patients and 242 controls was performed to assess the association of 27 single nucleotide polymorphisms (SNPs) in the RAS/RAF/MEK/ERK pathway genes with gastric cancer. Analyses performed under the additive model (allele) showed four significantly associated SNPs: RAF1 rs3729931 (Odds ratio (OR) = 1.54, 95%, confidence interval (CI): 1.20–1.98, p-value = 7.95 × 10−4), HRAS rs45604736 (OR = 1.60, 95% CI: 1.16–2.22, p-value = 4.68 × 10−3), MAPK1 rs2283792 (OR = 1.45, 95% CI: 1.12–1.87, p-value = 4.91 × 10−3), and MAPK1 rs9610417 (OR = 0.60, 95% CI: 0.42–0.87, p-value = 6.64 × 10−3). Functional annotation suggested that those variants or their proxy variants may have a functional effect. In conclusion, this study suggests that RAF1 rs3729931, HRAS rs45604736, MAPK1 rs2283792, and MAPK1 rs9610417 are associated with gastric cancer.

scholarly journals MassARRAY-based single nucleotide polymorphism analysis in breast cancer of north Indian population

BMC Cancer ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Divya Bakshi ◽  
Ashna Nagpal ◽  
Varun Sharma ◽  
Indu Sharma ◽  
Ruchi Shah ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Mutations ◽  
Cost Effective ◽  
P Value ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cost Effective Method ◽  
Common Genetic Variants ◽  
Underlying Causes

Abstract Background Breast Cancer (BC) is associated with inherited gene mutations. High throughput genotyping of BC samples has led to the identification and characterization of biomarkers for the diagnosis of BC. The most common genetic variants studied are SNPs (Single Nucleotide Polymorphisms) that determine susceptibility to an array of diseases thus serving as a potential tool for identifying the underlying causes of breast carcinogenesis. Methods SNP genotyping employing the Agena MassARRAY offers a robust, sensitive, cost-effective method to assess multiple SNPs and samples simultaneously. In this present study, we analyzed 15 SNPs of 14 genes in 550 samples (150 cases and 400 controls). We identified four SNPs of genes TCF21, SLC19A1, DCC, and ERCC1 showing significant association with BC in the population under study. Results The SNPs were rs12190287 (TCF21) having OR 1.713 (1.08–2.716 at 95% CI) p-value 0.022 (dominant), rs1051266 (SLC19A1) having OR 3.461 (2.136–5.609 at 95% CI) p-value 0.000000466 (dominant), rs2229080 (DCC) having OR 0.6867 (0.5123–0.9205 at 95% CI) p-value 0.0116 (allelic) and rs2298881 (ERCC1) having OR 0.669 (0.46–0.973 at 95% CI), p-value 0.035 (additive) respectively. The in-silico analysis was further used to fortify the above findings. Conclusion It is further anticipated that the variants should be evaluated in other population groups that may aid in understanding the genetic complexity and bridge the missing heritability.

Genetic association study of SOX2 gene polymorphisms with high myopia in a Chinese population

2020 ◽  
pp. 112067212090466
Author(s):  
Lan Li ◽  
Ying Juan Cui ◽  
Yunchun Zou ◽  
Liyuan Yang ◽  
Ximin Yin ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Chinese Population ◽  
High Myopia ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Spherical Equivalent ◽  
Chi Square ◽  
Single Nucleotide ◽  
Sox2 Gene ◽  
Chi Square Test

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.

scholarly journals Genetic variants in humanin nuclear isoform gene regions show no association with coronary artery disease

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Mall Eltermaa ◽  
Maili Jakobson ◽  
Meeme Utt ◽  
Sulev Kõks ◽  
Reedik Mägi ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Multiple Testing ◽  
Meta Analysis ◽  
Noncommunicable Disease ◽  
P Value ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Artery Disease ◽  
Preventive Methods

Abstract Objective Coronary artery disease contributes to noncommunicable disease deaths worldwide. In order to make preventive methods more accurate, we need to know more about the development and progress of this pathology, including the genetic aspects. Humanin is a small peptide known for its cytoprotective and anti-apoptotic properties. Our study looked for genomic associations between humanin-like nuclear isoform genes and coronary artery disease using CARDIoGRAMplusC4D Consortium data. Results Lookup from meta-analysis datasets gave single nucleotide polymorphisms in all 13 humanin-like nuclear isoform genes with the lowest P value for rs6151662 from the MTRNR2L2 gene including the 50 kb flanking region in both directions (P-value = 0.0037). Within the gene region alone the top variant was rs78083998 from the MTRNR2L13 region (meta-analysis P-value = 0.042). None of the found associations were statistically significant after correction for multiple testing. Lookup for expression trait loci in these gene regions gave no statistically significant variants.

scholarly journals THE RELATIONSHIP OF FAMILY SUPPORT REGARDING THE PATIENTS WITH CHRONIC KIDNEY FAILURE WHO HAVE HEMODIALIZED THERAPY TREATMENT IN PMI HOSPITAL BOGOR

2020 ◽  
Vol 10 (2) ◽  
pp. 80-88
Author(s):  
Sara Sara Tania Aprianty ◽  
Hani Siti Hanifatun Fajria
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Family Support ◽  
Patient Compliance ◽  
Kidney Failure ◽  
Statistical Test ◽  
Bivariate Analysis ◽  
P Value ◽  
Chi Square ◽  
Number Of Patients

Chronic Renal Failure (CRF) is a disease that has occurred after various diseases that damage the kidney nephrons period up to the point the two are not capable of functioning regulatory and ekstetoriknya to maintain homeostasis. Number of patients with kidney failure in Indonesia is estimated to reach 300.000 people. As many as 12.804 patients with renal failure undergoing hemodialysis. To determine correlation family support patient compliance with chronic renal failure undergo hemodialysis therapy in RS PMI Bogor. This type of research is descriptive quantitative analytical research with cross sectional design. How sampling in this study with purposive sampling with a sample of 152 respondents. The instrument used is questionnaire while data analysis techniques using univariate and bivariate analysis using statistical test Chi-Square. Of the 152 respondents with a family to support as many as 139 respondents (91.4%), adherent patients as many as 128 respondents (84.2%) and family support with adherent patients as many as 121 respondents (79.6%). Statistical test results using Chi-square test p value value 0,007 (p <0.05) and the value of OR 5.762. The conclusion of this research that, There is a correlation between family support patient compliance with chronic renal failure through hemodialysis therapy in PMI Hospital Bogor, 2016. The researchers recommend that increased family support by distributing leaflets to the patients and families about the importance of family support for compliance patients undergo hemodialysis therapy.

scholarly journals Hubungan citra tubuh dengan kesejahteraan spiritual pada pasien hemodialisis di RS PKU Muhammadiyah Gamping

2019 ◽  
Vol 8 (1) ◽  
Author(s):  
Tendy Ar Riqi ◽  
Sutejo Sutejo ◽  
Erika Nurwidayanti
Keyword(s):  
Renal Failure ◽  
Body Image ◽  
Chronic Renal Failure ◽  
Body Image Disturbance ◽  
Bivariate Analysis ◽  
P Value ◽  
Spiritual Wellbeing ◽  
Chi Square ◽  
Cross Sectional ◽  
Hemodialysis Unit

Hemodialysis would affect body image and have an impact on the spiritual wellbeing of patients due to the variety of changes in the patient’s body. The purpose of this study was to determine the relationship between body image and the spiritual wellbeing of patients undergoing hemodialysis. The research method is descriptive correlative with a cross-sectional approach. The study was conducted in PKU Muhammadiyah Hospital Gamping with a sample of 60 respondents. The sampling method is purposive sampling. Data collection tool in this study is a questionnaire with 22 statements. Data were analyzed using univariate and bivariate analysis using chi square tests. The results showed that there is a relationship between body image and the spiritual wellbeing of patients with chronic renal failure undergoing hemodialysis with p-value (0,027) < α (0,05). This study recommends hemodialysis unit to improve further performance in providing comprehensive care nursing practice both physical and psychosocial in patients with chronic renal failure undergoing hemodialysis especially on the subject of body image disturbance that will affect the spiritual wellbeing of patients.

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