Background: Additional inflammatory responses and subsequent damage—arising from enhance transcriptional activity or forming the more active protein due to existence of polymorphic sites in the pro-inflammatory cytokines gene loci—give rise to myocardial infarction susceptibility. Objectives: The aim of our study was to explore whether two interleukin-13 gene polymorphisms (−1512A/C and +2044G/A) could serve as underpins genetic susceptibility of myocardial infarction. Methods: The Iranian population that belong to the Parsis ethnic group was involved in the present study. A total 250 patients with definite myocardial infarction—meeting hypertension, hypercholesterolemia, hyperglycemia, and coronary artery disease requirements—were recruited from the Shiraz urban hospitals. 250 age- and sex-matched healthy individuals without a history of cardiovascular disease and heart disease related risk factors constituted the control group. PCR-restriction fragment length polymorphism technique applied to genotyping at −1512A/C and +2044G/A loci. Hardy–Weinberg equilibrium test was performed (combined cases and controls). The differences of the genotype frequencies in cases and controls were analyzed using a chi-square test. Logistic regression analysis was performed to assess the association between the genotypes and most important risk factors for myocardial infarction. All statistical analyses were performed in SPSS Version 22.0. p-values below 0.05 were hailed as statistically significant. Results: Deviation from Hardy–Weinberg equilibrium was not significant in the −1512A/C locus. Statistically significant difference between our study groups was found in genotype frequency of the −1512A/C. This variant was found in associated with myocardial infarction risk factors. The +2044G/A polymorphism was not in Hardy–Weinberg equilibrium and no significant difference observed in the distribution of +2044G/A genotype frequency among cases and controls. However, further analysis revealed that this genotype associated with an increased susceptibility to myocardial infarction risk factors. Conclusions: The presence of interleukin-13 −1512A/C and +2044G/A gene polymorphisms underpin myocardial infarction predisposition in the ethnic Parsis of the Iranian population.

The early diagnosis of preeclampsia, a key outlook in improving pregnancy outcomes, still remains elusive. The present study aimed to examine the interleukin-13 and interleukin-4 pathway potential in the early detection of preeclampsia as well as the relationship between interleukin-13 rs2069740(T/A) and rs34255686(C/A) polymorphisms and preeclampsia risk to present a combined model. This study utilized raw data from the GSE149440 microarray dataset, and an expression matrix was constructed using the RMA method and affy package. The genes related to the interleukin-13 and interleukin-4 pathway were extracted from the GSEA, and their expression levels were applied to design multilayer perceptron and PPI graph convolutional neural network models. Moreover, genotyping for the rs2069740(T/A) and rs34255686(C/A) polymorphisms of the interleukin-13 gene were tested using the amplification refractory mutation system PCR method. The outcomes revealed that the expression levels of interleukin-4 and interleukin-13 pathway genes could significantly differentiate early preeclampsia from normal pregnancy. Moreover, the present study’s data suggested significant differences in the genotype distribution, the allelic frequencies and some of the risk markers of the study, in the position of rs34255686 and rs2069740 polymorphisms between the case and control groups. A combined test of two single nucleotide polymorphisms and an expression-based deep learning model could be designed for future preeclampsia diagnostic purposes.

The impaired suppressive function of regulatory T cells is well-understood in systemic lupus erythematosus. This is likely due to changes in Foxp₃ expression that are crucial for regulatory T-cell stability and function. There are a few reports on the correlation between the Foxp₃ altered expression level and single-nucleotide polymorphisms within the Foxp₃ locus. Moreover, some studies showed the importance of Foxp₃ expression in the same diseases. Therefore, to explore the possible effects of single-nucleotide polymorphisms, here, we evaluated the association of IVS9+459/rs2280883 (T>C) and −2383/rs3761549 (C>T) Foxp₃ polymorphisms with systemic lupus erythematosus. Moreover, through machine-learning and deep-learning methods, we assessed the connection of the expression level of the gene with the disease. Single-nucleotide polymorphisms of Foxp₃ (IVS9+459/rs2280883 (T>C) and −2383/rs3761549 (C>T)) were, respectively, genotyped using allele-specific PCR and direct sequencing and polymerase chain reaction-restriction fragment length polymorphism, in 199 systemic lupus erythematosus patients and 206 healthy age- and sex-matched controls. The Statistical Package for the Social Sciences version 19 and Fisher’s exact and chi-square tests were used to analyze the data. Moreover, six machine-learning models and two sequential deep-learning models were designed to classify patients from normal people in the E-MTAB-11191 dataset through the expression level of Foxp₃ and its correlated genes. The allele and genotype frequencies of both polymorphisms in question were found to be significantly associated with an increased risk of systemic lupus erythematosus. Furthermore, both of the two single-nucleotide polymorphisms were associated with some systemic-lupus-erythematosus-related risk factors. Three SVM models and the logistic regression model showed an 81% accuracy in classification problems. In addition, the first deep-learning model showed an 83% and 89% accuracy for the training and validation data, respectively, while the second model had an 85% and 79% accuracy for the training and validation datasets. In this study, we are prompted to represent the predisposing loci for systemic lupus erythematosus pathogenesis and strived to provide evidence-based support to the application of machine learning for the identification of systemic lupus erythematosus. It is predicted that the recruiting of machine-learning algorithms with the simultaneous measurement of the applied single nucleotide polymorphisms will increased the diagnostic accuracy of systemic lupus erythematosus, which will be very helpful in providing sufficient predictive value about individual subjects with systemic lupus erythematosus.

Background and Objectives Microtia-atresia is a rare congenital anomaly, which characterized by a small, abnormally shaped auricle (microtia) accompanied with narrow, blocked or absent ear canal (atresia). Microtia can occur appear either as independent clinical abnormality or as part of a syndrome. Due to hearing loss, 80%–90% of patients are at increasing risk of speech and poor academic performance. This abnormality with genetic predisposition and autosomal dominant or recessive mode of Mendelian hereditary, as well as forms due to chromosomal aberrations, occur in varying degrees from 0.83 to 17.4 per 10,000 births, usually unilateral form with more common in males. Case Presentation In this article, a term male neonate with microtia-atresia, born of a 34-year-old mother, was reported. On initial examination by a pediatrician, not properly formation of external right ear and absence of the ear canal was observed in infant. In a closer examination no craniofacial anomalies and no microtia associated syndrome was not observed.

Background & aim: Increasing food consumption outdoors in different societies has raised the risk of transmission of foodborne pathogens as a global health problem. Molecular typing methods such as REP-PCR produced DNA profiles for differentiation and characterization of pathogenic strains. The aim of the present study was to evaluate the accuracy ...

Background and Aim: In acute myeloid leukemia, a large number of immature cells develop, which can related to some single nucleotide polymorphisms presence in positions of genes that encodes enzymes involved in cell activation and evolution signaling pathways. In this study, the association of rs104893674 (A / C) polymorphism with the risk of Acute Myeloid Leukemia (AML) in samples obtained from Fars and Isfahan Province hospitals was investigated. Methods & Materials: In the present case-control study conducted at Islamic Azad University of Kazerun in 2019, 94 AML patients and 99 age and sex-matched healthy individuals were enrolled. The rs104893674 (A / C) polymorphism was determined by Tetra Primer ARMS PCR method. Data were analyzed by SPSS (version23) software using Chi-square statistical test. Ethical Considerations: This study with research ethics code IR.IAU.KAU.REC.1398.051 has been approved by Research Ethics Committee of Islamic Azad University of Kazerun. Results: The results of this study showed a significant, allele and genotype-specific Association between rs104893674 (A / C) polymorphism with risk of AML. Thus, there are more likely to develop AML in AC genotype, individuals with A allele at this polymorphic site (P=0.000). Conclusion: The association of acute myeloid leukemia with the genetic polymorphism of the ZAP-70 protein can be considered as an option for prognosis of this complication in susceptible individuals.