polymorphisms

Objective: In end stage renal disease, the synthesis of vitamin D is disturbed.Hyperparathyroidism is one of the key factors in the pathogenesis of many of the complications of dialysis mainly bone and cardiovascular complications.Aim:This study aimed at assessing vitamin D receptor gene polymorphisms BsmIand FokI in Egyptian patients with end stage renal disease on maintenance haemodialysis and the assosciation of these polymorphisms with cardiovascular complications and hyperparathyroidism among these patients. Methods: One hundred subjects, recruited from Medical Research Institute, from March to July 2014, divided into two main groups; the control group which included thirty apparently healthy subjects and the patients group which included seventy patients with end stage renal disease on maintenance haemodialysis with median 4 years. To all studied subjects, detailed history was taken, thorough physical examination, carotid intima media thickness, presence of plaques and ECG ischemic changes. Laboratory investigations included serum levels of: glucouse, urea, creatinine, uric acid, albumin, total cholesterol, low and high density lipoproteins, calcium, phosphorus, and CRP as well as plasma PTH level. For molecular studies, the detection of BsmI and FokI polymorphisms using polymerase chain reaction and restriction fragment length polymorphism (PCR / RFLP) technique. Results: 1.No statistically significant difference could be detected in both BsmI and FokI gene polymorphisms between the hemodialysis patients and the controls, suggesting that the development of ESRD had no relation with either VDR BsmI or FokI gene polymorphisms.2.No statistically significant difference were found in these polymorphisms between the hemodialysis patients with or without cardiovascular complications or between patients with PTH level less or more than 300 pg/ml. These results suggest that the development of cardiovascular complications and secondary hyperparathyroidism among Egyptian patients on maintenance haemodialysis cannot be attributed to these two gene polymorphisms. Conclusion: No association could be found between the variant alleles of BsmI and FokI gene polymorphisms and the development of ESRD, cardiovascular complications and secondary hyperparathyroidism among the studied samples of Egyptian patients on maintenance haemodialysis.

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease caused by mutation(s) in the Mediterranean fever (MEFV, pyrinmarenostrin) gene [1,2]. FMF is characterized by recurrent fever crises combined with serosal, synovial, or cutaneous inflammation and, in some individuals, by the eventual development, in the long-term, of systemic amyloidosis [3,4]. FMF mainly affects peoples living along eastern Mediterranean Sea (Turks, Sephardic Jews, Armenians) and it is not a rare disease in other Mediterranean areas such as Greeks, Italians and Iranians [4,6]. Until now, more than 304 sequence variants have been recorded [6]. In Italy M694V, V726A, M680I, M694I and E148Q are the most frequent FMF-associated mutations [7]. Here, we describe a recent case of mild FMF, characterized by all the clinical manifestations indicative of FMF described in the literature, according to Tei-Hashomer criteria [4] and by the analysis of MEFV gene, characterized by polymorphism c1588-69G>A. This is in agreement with previous our observations in a wider sample collected in the years. We are training to define the relations among gene mutations and clinical forms of FMF.

Goosegrass (Eleusine indica L. Gaertn.) is a troublesome weed in turfgrass systems throughout the world. The development of herbicide resistant ecotypes has occurred to multiple modes of action. Goosegrass is a prolific seed producer (~50,000 per plant), fast growing and diverse weed. Such growing attributes make it essential to have a better understanding of the genetic diversity of various ecotypes. The objectives of this study were to determine if morphologically distinct goosegrass ecotypes collected in Florida were phenotypically distinct and genetically different. Phenotypically, the goosegrass ecotypes can be classified as follows; dwarf, intermediate 1 (int_I), intermediate 2 (int_II) and wild. The dwarf had the least seedheads followed by the wild ecotype; 5 and 17 respectively, while int_I and int_II had highest number of seedheads; 22 and 34 respectively. The dwarf ecotype had lowest height of 6 cm and the wild ecotype had highest height of 36 cm. Dwarf and int_II ecotypes had shortest internode length of 0.2 cm and 1 cm, respectively, while the wild ecotype had longest internode length of 7 cm. The dwarf ecotype had lowest number of racemes per plant of 1, while the wild ecotype had highest number of racemes per plant of 7. Total biomass was lowest for the dwarf and int_II ecotype; 0.7 g and 1.5 g, respectively, and total biomass was highest for the wild ecotype at 5 g. Gene sequencing of two rice (Oryza) gene sequences (accession AP014964 (gene A) and AP014965 (gene B)) and subsequent phylogenetic analysis suggest the ecotypes are genetically different. Three single nucleotide polymorphisms (SNP) of interest were discovered indicating allelic differences between ecotypes.

Citrus Vein Phloem Degeneration (CVPD) is the main disease of citrus plants in Indonesia. This disease is caused by Gram negative bacteria, Candidatus Liberibacter asiaticus. Almost all citrus plants are susceptible to this disease and only a few citrus plants such as seedless lime (Citrus aurantiifolia var. Seedles) and kinkit citrus (Triphacia trifoliate) are tolerant. Both of these citrus plants store DNA fragments of CVPDr which are considered as tolerant factors (841 bp). However, this study found that CVPDr DNA fragments were also found in citrus plants susceptible to CVPD disease. This research aims to study DNA polymorphisms from CVPDr DNA fragments in citrus plants on the island of Bali. The PCR test showed T. trifoliate and C. aurantifolia that are resistant to CVPD and Pylogenically are in the same group as C. nobilis var Buleleng, C. reticulate var. Slayer Buleleng, and C. amblicarpa. On the other hand, citrus plants susceptible to CVPD are in a different group. There are two types of citrus plants not containing CVPDr DNA fragments, namely C. nobilis var. Petang and M. paniculata L. These results indicate that the CVPDr DNA fragment polymorphism is a factor tolerant to CVPD disease.

Background: Interleukin-6 (IL-6) promotes antibody production. The objective of this study was to investigate whether IL-6 C-572G single nucleotide polymorphisms (SNP) and clinical factors are associated with positive platelet antibody test. Materials and methods: Thirty platelet recipients with platelet antibodies (responders) and 20 platelet recipients without platelet antibodies (non-responders) were randomly selected. The -572 C>G (rs 1800796) SNPs in the promoter region of IL-6 gene were genotyped by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method. Solid phase red cell adherence assay (SPRCA) was used for platelet antibody detection. Results: Age, sex, percentage patients with benign diseases, and percentage of patients with homozygotes for the C allele at position -572 of the IL-6 gene were similar between responders and non-responders. Although the amounts of platelets pheresis transfused to patients with hematologic diseases were higher than those of non-hematologic diseases (47.2 ± 54.2 vs. 17.4 ± 13.8 units, p = 0.019), detection rate of platelet antibodies was lower in patients with hematologic diseases than that in patients with non-hematologic diseases (42.3% vs. 79.2%, p = 0.01). Conclusion: There was no association between IL-6 C-572G gene polymorphism and positive reactivity in solid phase platelet antibody detection method in platelet recipients.

Background: Currently there are three available formulations of tacrolimus in the United States; these include immediate-release capsules (TAC-IR), extended-release capsules (TAC-XL),and extended-release tablets (TAC-XR). Previous studies have demonstrated non-inferiority between the three formulations in terms of efficacy. The purpose of this study was to compare three formulations of tacrolimus (TAC) and assess differences in time within the therapeutic range (TTR) and variability in levels. Results: Renal transplant recipients from January 2013 to October 2017 were retrospectively identified for analysis. Deviation from standard TAC protocol or formulation changes excluded patients. The primary outcome compared percent TTR (TTR %) among 3 TAC formulations over the first 90 days post-transplant. TTR was calculated using the Rosendaal method. Secondary outcomes included differences in TAC levels, TAC dose, eGFR, rejection, patient and graft survival between the TAC formulations. TAC-XR demonstrated a significantly higher TTR % compared to TAC-IR and TAC-XL (62.8% vs. 53.3% vs. 60.9%, p = 0.048). In post-hoc analysis, TAC-XR had a higher TTR % compared to TAC-IR (p = 0.065), which approached statistical significance. Average TAC levels, weight-normalized TAC doses, median dose-normalized TAC levels, rejection rates, eGFR, and graft or patient survival were similar among groups. Conclusion: In the early transplant period, TTR was significantly different among the groups. TAC-XR demonstrated numerically superior time within the therapeutic range. Patient-specific factors such as race, obesity, genetic polymorphisms may impact this variability and clinical outcomes. Further analysis is necessary to understand the effect of each patient-specific factor on TAC exposure.

SARS-CoV-2 is a virus that has a positive-sense, single-stranded RNA genome that encodes 4 structural proteins, the main one being the S protein (Spike) responsible for mediating with ACE2 and TMPRSS2 for entry into the host cell. The study of single nucleotide polymorphisms (SNPs) of ACE2 and TMPRSS2 can elucidate their possible intervention in the action of the protein, its activity, and the gene expression of encoding these enzymes, which may increase susceptibility to viral infection. From this, literature searches were carried out until December 2021, listing 11,820 publications for literary analysis on the described genetic variations of these protein structures, as well as their relation and influence on the pathology. It was possible to conclude that there is a great influence exerted by genetic variability in ACE2 and TMPRSS2 increasing the ability of the virus to bind to the host cell and the development of COVID-19 with complications. 

Sepsis, a life-threatening condition triggered by infection, poses a significant healthcare challenge with high mortality rates. The interplay between genetics and the immune response in sepsis, particularly in surgical and trauma patients, is complex and critical. Genetic polymorphisms, particularly in cytokine genes like TNF-α, IL-6, and IL-8, have been extensively studied for their influence on sepsis susceptibility, severity, and outcomes. Polymorphisms can alter gene expression and cytokine production, leading to variations in immune responses. Studies have also explored polymorphisms concerning sepsis in genes encoding CD86, TLR4, and SIRT6. This review highlights the association between genetic polymorphisms and inflammatory responses, focusing on their impact on sepsis outcomes in surgical and trauma patients. Genetic variations play a significant role in sepsis risk, severity, and prognosis, with potential implications for personalized therapeutic strategies. Biomarkers such as cytokine gene polymorphisms may aid in predicting sepsis risk and guiding treatment decisions. Complementary therapies like acupuncture and novel biomarkers like microvesicles carrying mitochondrial content provide additional avenues for personalized sepsis management. Furthermore, multiomics approaches offer promise in predicting postoperative outcomes in surgical patients. Understanding the genetic basis of sepsis is essential for improving prevention, diagnosis, and treatment, ultimately leading to better clinical outcomes. Combining genomics, bioinformatics, and clinical expertise, precision medicine can revolutionize sepsis management by tailoring interventions to individual genetic profiles, thus enhancing patient care and outcomes.

Background: Some studies have shown an association between spinal curvature and strabismus, but the genetic association has not been clarified. Therefore, the present study is proposed to be a Mendelian randomization study aiming to investigate the genetic causal association between spinal curvature and strabismus.Purpose: Genetic causal associations between strabismus, convergent concomitant strabismus (Ccs), Divergent concomitant strabismus (Dcs), Other specified and unspecified strabismus (Osus), Other strabismus (Os) and spinal curvature were investigated by a bidirectionalMendelian randomization study to provide a basis for the prevention and treatment of spinal curvature.Methods: Significant and independent Single Nucleotide Polymorphisms (SNPs) in genome-wide association studies were selected as Instrumental Variables (IVs) for Mendelian Randomization (MR) analysis. Inverse Variance Weighted (IVW), MR-Egger regression, Weighted Median (WME), Simple Mode (SM), and weighted mode (WM) were used to analyze causal association; Heterogeneity and multiplicity tests were also performed and analyzed using the leave-one-out method to assess the stability of the results.Results: MR and reverse MR were utilized to assess the impact of scoliosis on strabismus, revealing that the 95% confidence intervals of all instrumental variables’ OR values spanned 1 and the p values were all above 0.05. These results indicate a lack of evidence supporting a causal relationship between scoliosis and strabismus. Conclusion: There is currently no conclusive evidence of a genetic causal relationship between scoliosis and strabismus, including their subtypes. Further laboratory studies are needed to confirm these findings, and future research with larger sample sizes is necessary to provide more robust support.

Gilbert’s Syndrome (GS) is a hereditary disease that can cause hyperbilirubinemia due to a mutation in the promoter of the UGT1A1 gene, which causes a decrease in uridine diphosphate glucuronyltransferase enzyme activity. Polymorphisms in the UGT1A1 gene are associated with induced hyperbilirubinemia by Tyrosine Kinase Inhibitors (TKI) in Chronic Myeloid Leukemia (CML). We report a case of patient who developed hepatotoxicity when treated on Imatinib and subsequently diagnosed with Gilbert’s syndrome. Eight months after initiating Imatinib, the patient developed conjunctival jaundice and signs of hepatotoxicity with increase in liver enzymes and hyperbilirubinemia with elevated level of unconjugated bilirubin. Gilbert’s syndrome was suspected in the presence of predominantly unconjugated hyperbilirubinemia and a prior history of transient episodes of jaundice. Genetic testing revealed homozygosity for the UGT1A1 TA7 (*28) polymorphism. Imatinib was stopped due to continuous increase of aminotransferases and hyperbilirubinemia and restarted after improvement of Liver Function Tests (LFTs) with a reduced dose of 200 mg/day but LFTs worsted again, and the patient was switched to Dasatinib 100 mg/day, without hepatic cytolysis and a mild persistent hyperbilirubinemia after a follow up of 20 months.Patients with an unexplained rise in serum bilirubin levels on Imatinib therapy should be screened for the genetic UGT1A1 polymorphisms.