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The aim of this study was to assess the association between four vitamin D receptor (VDR) single nucleotide polymorphisms BsmI (rs1544410), ApaI (rs7975232), FokI (rs2228570) and TaqI (rs731236) and the susceptibility to chronic kidney disease (CKD) in Egyptian children and to evaluate their association with mineral status in these patients.The current study included 305 patients with CKD and 100 apparently healthy children. We measured the serum vitamin D (VD), para-thyroid hormone (PTH) level and fibroblast growth factor 23 (FGF-23) levels by ELISA method. The genotyping of the four VDR gene variants was carried out by PCR-RFLP technique.The TaqI AGamp; the BsmI TT genotypes were associated with a significantly higher risk of CKD. The expression of 25-OH D serum level was decreased in patients with TaqI GGamp; AG genotypes groups and in patients with BsmI TT genotype group The expression of PTH serum level was increased in patients with BsmI CT genotype group. The expression of FGF-23 serum level was increased in patients with Taq1 AG genotype group. We found 3 specific haplotypes; AGCA, AGCC and GGCA for healthy controls.Our study showed an association between VDR TaqI, BsmI polymorphisms and the susceptibility to CKD. The existence of VDR vari-ants affected the protein expression of VD, FGF-23 and PTH. The AGCA, AGCC and GGCA haplotypes were considered as protec-tive factors against the development of renal nephropathy in our population.

Background Type 2 diabetes (T2D) is a complex trait in humans. Several environmental and hereditary factors contribute to the overall pathogenesis of this disease. The association between genes, environment, and T2D was unknown for decades until epigenetics was discovered. Epigenetics affects gene transcription, which, in turn, influences organ function. One of the epigenetic regulatory mechanisms is DNA methylation. This mechanism permits modification of gene function without changes in the DNA sequence. There are several risk factors for type 2 diabetes such as harmful intrauterine environment, obesity, poor physical activity, increasing age, a family history of the disease, and an unhealthy diet. All these factors have been proven to influence the DNA methylation sequence in target tissues for insulin resistance in humans. We aimed to evaluate insulin-like growth factor binding protein-1 (IGFBP1) gene methylation levels in T2D. In all, 100 Egyptian individuals were included in this study: 50 patients with T2D versus 50 healthy controls. Genomic DNA was extracted from peripheral blood and IGFBP1 methylation levels were analyzed using pyrosequencing. Results DNA methylation levels in the IGFBP1 gene at each of the six CpG sites were significantly higher in the T2D patients than in the controls at P values of 0.001, 0.002, 0.010, 0.007, 0.014, and 0.001, respectively. Conclusion According to this study, T2D is due to interactions between genetics, epigenetics, and lifestyle. This study also revealed that DNA methylation levels of the IGFBP-1 gene are higher in T2D patients than in healthy control.

Background Genome-wide association studies have identified novel genes related to coronary artery disease (CAD). These studies have been replicated in distinct ethnic populations, returning inconsistent results. Our work aimed to study the frequency of C and T alleles of GLUL polymorphism genetic variant rs10911021 among Egyptians with coronary artery disease in comparison to apparently healthy subjects. Our study included 420 patients with CAD (180 CAD without T2DM, 240 CAD with T2DM patients) and 200 control subjects. All subjects were genotyped for rs10911021 by real-time polymerase chain reaction. Results For rs10911021, the frequency of (C/T + T/T) genotypes was significantly higher in CAD patients with and without T2DM than in controls (55(45 + 10) % vs. 22(19 + 3) %; p

IntroductionA role for ficolin (FCN) 2 gene polymorphisms in the pathogenesis of recurrent severe streptococcal infections and rheumatic carditis has been suggested. The aim of the study was to evaluate a possible relationship between single nucleotide polymorphisms located at positions -602 and -4 of the FCN2 gene and FCN2 serum levels and risk of development of rheumatic fever (RF) and rheumatic heart disease (RHD).Material and methodsSeventy-seven Caucasian Egyptian patients with RF were recruited with a control group of 43 healthy subjects. DNA was extracted for analysis of the FCN2 gene at positions -602 and -4 and serum protein level was measured by ELISA.ResultsFCN2 AA genotype at the -4 position was more frequently observed in RF and RHD patients, as compared to healthy subjects (p = 0.005 and p = 0.013, respectively); furthermore, the A allele was identified as a possible risk factor for the development of RF (p = 0.023, OR = 1.852, 95% CI: 1.085–3.159). The haplotype –602/–4 G/A, which was associated with low median levels of L-ficolin, was observed more frequently in the RF group when compared to the healthy subjects (74/162, 48.1% vs. 29/420, 33.7%, OR = 1.834, 95% CI: 1·034–3.252, p = 0·038). Low serum ficolin 2 level was associated with ESV and EDV increases. FCN 2 level was significantly lower with AA genotypes than GG+AG genotypes of the -4 position (56.68 ±17.90 vs. 66.05 ±18.79, p = 0.008).ConclusionsPolymorphisms linked to low levels of L-ficolin may render an individual at risk of recurrent and/or severe streptococcal infection. The -4 AA genotype and -602/-4 G/A haplotype are possible risk factors for the development of carditis.

We studied the impact of socioeconomic level on the anti‐SARS‐CoV‐2‐antibodies prevalence in an Egyptian cohort. The low socioeconomic standard group (LSS) included 51 humans, 30 females (F) and 21 males (M). The high socioeconomic standard group (HSS) included 55 subjects, 24 F and 31 M. Of the 30 LSSF, 6 were immunoglobulin M (IgM), 21 immunoglobulin G (IgG), and 6 double positive. Of the 21 LSSM, 5 were IgM, 12 IgG, and 5 double positive. Of the 24 HSSF, 6 were IgM, 11 IgG, and 5 double positive. Of the 31 HSSM, 6 were IgM, 14 IgG, and 4 double positive. Of the 51 LSS humans, 26 were symptomatic (S) and 25 asymptomatic (AS). Of the 26 S, 20 were IgG and 8 IgM/IgG double positive. Of the 25 AS, 13 were IgG and 3 IgM/IgG double positive. Of the 55 HSS humans, 38 were S and 17 AS. Of the 38S, 24 were IgG and 11 IgM positive of whom, 9 were double positive. Of the 17 AS, one was IgG and one IgM positive. The IgM prevalence was higher among the HSS humans. The IgG prevalence was significantly higher among the LSS humans. In the two different socioeconomic standards, the prevalence of either IgM or IgG was higher among F. An inverse correlation was observed between age and the anti‐SARS‐CoV‐2‐antibodies prevalence except for LSSF‐IgG and LSSM‐IgM. In conclusion, socioeconomic standard, gender, and age impact humoral responses to SARS‐CoV‐2 with a clear heterogeneity in individualized responses to the infection in terms of symptoms., Highlights Socioeconomic standard, gender, and age impact humoral responses to SARS‐CoV‐2 with a clear heterogeneity in individualized responses to the infection in terms of symptoms.

BACKGROUND: Mild cognitive impairment (MCI) is a stage between the expected cognitive decline of normal ageing and the serious decline of dementia. AIM: To identify risk factors and role of miRNAs associated with mild cognitive impairment (MCI) among employees. SUBJECTS AND METHOD: A cross-sectional study was carried out on 186 employees aged between 40 and 65 years. Cognitive function was evaluated using ACEIII, MoCA, and Quick cognitive tests. Medical history and lifestyle were assessed. Family 132 & 134 miRNA expressions were assessed by real-time PCR. RESULTS: MCI was detected among 14 / 186 (7.5%). miRNA 132 expression was the only significant miRNAs to detect MCI with low sensitivity and specificity (70%). The logistic analysis revealed that higher miRNA132 expressions, low monthly intake of; vegetables, unroasted nuts, low education and higher ALT levels were predicting factors for MCI with AOR 1.1 (1.01-3.3), 1.2 (1.04-1.43), 0.8 (0.8-0.98), 2.7 (1.9-7.4) and 1.6 (1.1-2.3) respectively. CONCLUSION: MiRNAs expression showed low sensitivity and specificity in detecting MCI; only miRNA 132 might be used. Several modifiable factors seem to reduce the risk of MCI.

Objective: Peroxisome Proliferator-Activated Receptor-γ (PPAR-γ) gene is one of the possible genes linking diabetes mellitus (DM) with coronary artery disease (CAD). The aim of this study is to clarify whether PPAR-γ Pro12Ala polymorphism is associated with the development of CAD in type 2 diabetic patients and to evaluate PPAR-γ Pro12Ala polymorphism genetic distribution in type 2 DM (T2DM) Egyptian subjects. Methods: PPAR-γ Pro12Ala polymorphism was determined by Real-Time PCR in serum of 405 subjects classified into 4 groups; T2DM patients (n = 105), T2DM with CAD (n = 100), CAD patients (n = 100) and healthy controls (n = 100). Results: The PPAR-γ Pro12Ala polymorphism was associated significantly with T2DM with CAD (group2) (OR = 3, 95% CI = (1.5–6); p = 0.001). In this study, T2DM with CAD complications carrying the PPAR-γ Pro12Ala polymorphism had higher BMI than those without the PPAR-γ Pro12Ala polymorphism (p

Background: Diabetes mellitus is considered a major public health problem worldwide. Susceptibility to diabetes is influenced by both genetic and environmental determinants. Aims/hypothesis: The aim of the present study was to test for 16 independent single nucleotide polymorphisms (SNPs) in established Type 2 diabetes (T2D) and obesity susceptibility loci by GWAS in a sample of Egyptian patients to find out if there is shared genetic background underlying both disease entities. Methods: Genotyping was performed using OpenArray® protocol on the QuantStudio™ 12K Flex Real-Time PCR System. In the present case control study a custom array was designed to facilitate cost-effective analysis of selected SNPs related to glycolysis, gluconeogenesis, inflammation, insulin signalling, and immune function. Results: Seven gene variants showed significant association with the risk of T2D patients including FCGRA2, STAT4, CELSR2, PPARG, EXT2 rs3740878, GCKR, PTGS1. Factors that significantly affect T2D were obesity (p

Background Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes mellitus. Until now, patients in developing countries who had this condition had been misdiagnosed as having type 1 diabetes mellitus and accordingly directed to erroneous, ineffective, and costly therapeutic regimens. Objective To detect Egyptian patients who harbor pathological variant in the KCNJ11 gene, so that their treatment regimen can be modified as needed to increase its effectiveness. Methods We sequenced KCNJ11 in 17 ethnic Egyptian probands diagnosed with diabetes mellitus before age 2 years. Results A preliminary case individual harboring a KCNJ11 pathological variant (p.R201H) was identified. The patient was successfully shifted from insulin therapy to sulfonylurea. Four previously identified benign variants, namely, E23K, I337V, L270V, and A190A, were detected in this patient. Conclusion Implementing the findings of this molecular analysis could have a major clinical and nationwide economic impact on world health, especially in developing countries.

Introduction Fc gamma receptor (FcγR) IIa is considered the most widely distributed of the three classes of Fc receptors, and it expresses an allelic polymorphism. This type of polymorphism may modify the immune response and may be an important factor for some diseases. The aim of the study reported herein was to evaluate the association between the FcγRIIa polymorphism and susceptibility to both end-stage renal disease (ESRD) and acute kidney graft rejection (AR) in children who have undergone renal transplantation. Material and methods The study evaluated 70 children who had undergone transplantation and 60 healthy subjects. AR was observed in 25 children. Results FcγRIIa genotypes and alleles were significantly different between transplantation patients and the control group. The assessment for FcγR of the groups in which AR was present showed that there was only a risk of having an acute rejection in homozygous genotype RR. Conclusions FcγRIIa RR genotype and allele frequency was increased in paediatric renal transplant recipients. The present findings showed that FcγRIIa genotype may be related to ESRD disease susceptibility, and FcγRIIa polymorphisms seemed to affect AR.

Introduction — Egypt has the highest prevalence of hepatitis C virus (HCV) infection which is reported to be associated with autoimmune manifestations. Aim — There is a need for markers that enable differentiation between viral and non-infected-autoimmune patients. Material and Methods — Levels of the B-cell activation factor (BAFF), IL6, IL10 and TNF-α were quantified by ELISA in sera from HCV-infected-autoimmune patients (HCV-AI), HCV-infected patients with no autoimmune diseases (HCV-NAI), non-infected autoimmune patients (NIAI) and healthy control humans (C). Results — HCV-infected patients were 12.96, 8.33, 69.44 and 36.11% positive for the auto-antibodies ANA, AMA, ASMA and AGPCA respectively. The BAFF level was significantly (P

Background/aim Iron overload is the main concern in treatment of hemolytic diseases with repeated blood transfusion, especially sickle cell disease (SCD). Hepcidin has appeared as the key iron metabolism regulator. Erythroferrone (ERFE) is postulated to function as the chief erythroid regulator. Transferrin receptor 2 (TfR2) acts as an iron sensor on erythroid cells. Our aim is to evaluate serum levels of hepcidin, ferritin, ERFE, and TfR2 and its correlation with molecular genetic study of hepcidin gene expression for SCD patients Patients and methods Patients: 103 children aged 6–18 years with SCD were recruited from the Pediatric Hematology Clinic at the National Research Center and Abo-Elrish Hospital (Cairo University), and 55 healthy children with matched age and sex served as the control group. Methods: laboratory analysis and enzyme-linked immunosorbent assay tests on patient samples were performed for serum hepcidin, ERFE, ferritin and TfR2, and hepcidin gene expression was performed by quantitative real-time PCR. Results Hepcidin RNA expression level showed significant correlation with the duration of the disease and blood transfusion frequency (r=−0.33, P Conclusion Combination of enzyme-linked immunosorbent assay and molecular studies of hepcidin RNA expression could be a diagnostic marker to be used in conjunction with analytical techniques to detect iron overload in pediatric sickle cell disease.

Introduction: Serum procalcitonin (PCT) levels are known to be low in healthy individ­uals in healthy subjects but are increased in patients with a severe bacterial infection. It has not been extensively studied in children with chronic kidney disease (CKD), treated either with hemodialysis (HD) or with renal transplantation. Material and methods: During a 6-month period, blood samples were taken from 102 (55 HD children and 47 renal transplant recipients) children with a strong clinical suspicion of infection. Procalcitonin levels were measured by ELISA. Results: Thirty-four/102 cases had proven infections as defined previously. Children with proven infections had a significantly higher PCT (0.920 ±0.24 ng/ml) than those without (0.456 ±0.53 ng/ml), p = 0.04. The ideal cutoff value derived for serum PCT was 0.5 ng/ml. This threshold value established a sensitivity of 94.1% and a specificity of 87.9%. Conclusions: This study indicates that significantly increased PCT concentration is a promising predictor of systemic bacterial infection in children with CKD, with good sensitivity and specificity. This study proposes that serum PCT is a convenient index of infection in CKD children at a cutoff value of 0.5 ng/ml.