Toll-like receptor 4 (TLR4) plays an important role in modulating innate immunity. Type 2 diabetes mellitus (T2DM) is a chronic disease that is characterized by impaired insulin resistance and abnormal immune response. Genetic background and consequently genetic factors might have a key role in both onset and progression of T2DM-related complications. The aim of this work was to study the role of toll-like receptor 4 (TLR4) in the development of type 2 diabetes mellitus (T2DM). This study was carried out on 90 subjects, 30 type 2 diabetic patients, 30 patients with impaired glucose tolerance and 30 age and gender matched healthy controls. mRNA expression of (TLR4) was assessed by reverse transcriptase PCR (RT-PCR) using real time PCR.. Results showed significant statistical difference between the three studied groups regarding BMI, serum FBG, HDL, TGs, TC, LDL, HOMA -IR and mRNA expression of TLR4 with highest level of TLR4 mRNA expression in T2DM patients. From this study, it might be concluded that high expression of (TLR4) is associated with T2DM.
Background: Schizophrenia (SCZ) is still a challenging, refractory, and severe disorder. It is not a fully understood disease with genetic and epigenetic susceptibility and about 80% substantial heritability. The CUB and Sushi multiple domains 1 (CSMD1) gene is implicated in neurogenesis, memory, immunity, neuropsychology, and monoamine metabolism. Thus, it is one of the powerful genes involved in the pathogenesis of SCZ. Purpose: To evaluate the possible role of the CSMD1 gene's mRNA expression and its serum protein as markers for the early diagnosis of the first-episode SCZ in familial high-risk (FHR) Egyptian children and young adults. Subjects and methods: This case−control study included 80 first-episode drug-nai ̈ve SCZ patients from FHR Egyptian children and young adults and 80 healthy participants, as controls, from the FHR-susceptible children and young adults but did not develop SCZ. In this study, the CSMD1 gene's mRNA expression and CSMD1 serum levels were measured in the peripheral blood, and these levels were correlated with the lipid profile of the study populations. Results: The CSMD1 gene's mRNA expression and its' protein levels were significantly decreased in the SCZ patients compared to controls. The receiver operating characteristic (ROC) curve analysis succeeded in distinguishing SCZ patients from those not having SCZ using cutoff points of ≤0.711 and ≤4.83 ng/mL for the CSMD1 gene's mRNA expression and serum protein level, respectively. At these levels, the diagnostic sensitivities were 93.75 and 91.25%; specificity was 92.5%; positive predictive value (PPV) were 92.6 and 92.4%; and negative predictive values (NPVs) were 93.7 and 91.4%, respectively. Also, the ROC curve analysis succeeded in discriminating those with suicidal tendencies. Conclusion: CSMD1 gene's mRNA expression might be a reliable and early diagnostic predictor of first-episode SCZ in the FHR Egyptian children and young adults.
Our data suggest that FNDC5 SNPs, rs16835198and rs726344 are associated with obesity in Egyptian population. GG genotype and G allele of rs726344 variant and TT genotype and T allele of rs16835198 variant may increase the susceptibility to obesity and there were a genotype phenotype correlation with circulating serum irisin and several metabolic parameters.
Background: Orsomucoid protein A (ORM) is a major acute-phase protein. Serum ORM (se-ORM) protein A elevates in infections, malignancies, and autoimmune diseases. Urinary ORM (u-ORM) protein A is more accurate and less invasive marker of inflammation. Elevated u-ORM was associated with pathomechanism factors related to psoriasis such as endothelial dysfunction; however, the clinical significance of it has not been explored yet. Aim: To evaluate se-ORM/u-ORM protein A and urinary orsomucoid protein A/urinary creatinine (u-ORM/u-CREAT) in patient with psoriasis and their relations to severity of the disease. Methods: This case-control study was conducted at Dermatology and Andrology Department; 35 psoriasis patients and 35 age-and sex-matched healthy controls were included. They were subjected to history taking and general and dermatological examination. Psoriasis severity was assessed by Psoriasis Area and Severity Index (PASI) score. Measurement of se-ORM/u-ORM protein A using ELISA and u-ORM/u-CREAT using colorimetric method.Results: Highly significant difference between psoriasis patients and controls regarding u-ORM protein A level (p value = 0.01). It was also higher in severe cases than moderate and mild ones and higher in moderate than mild cases (p value 0.001, 0.001, and 0.004, respectively). There were significantly higher u-ORM/u-CREAT (p ˂ 0.001) levels in psoriasis patients than in controls. Also, significantly higher U-ORM/u-CREAT levels were found in severe psoriasis cases than in mild and moderate cases (p = 0.003 and 0.006, respectively). While the se-ORM levels showed no significant differences between the studied groups.Conclusion: u-ORM/u-CREAT is a highly sensitive, easily available, and new inflammatory biomarker of psoriasis which correlates to the disease severity.
Background: Psoriasis is a common dermatologic disease with multifactorial etiology in which genetic factors play a major role. Peroxisome proliferator-activated receptor (PPAR)-γ is expressed in keratinocytes and is known to affect cell maturation and differentiation in addition to its role in inflammation. Aim: To study the association between PPAR-γ gene polymorphism and psoriasis vulgaris in Egyptian patients to explore if this polymorphism influenced disease risk or clinical presentation. Methods: Forty-five patients with psoriasis vulgaris and 45 age, sex and body mass index matched healthy volunteers who have no present, past or family history of psoriasis as a control group were enrolled. Selected cases included obese and nonobese participants. Detection of PPAR-γ gene polymorphism was done with restriction fragment length polymorphism polymerase chain reaction. Narrow-band ultraviolet B (NBUVB) was given for every case three times/week for 12 weeks. Results: Homopolymorphism, heteropolymorphism, and Ala allele were significantly associated with cases ( P = 0.01, P = 0.01, and P = 0.004, respectively) and increased risk of occurrence of psoriasis by 5.25, 3.65, and 3.37 folds, respectively. Heteropolymorphism was significantly associated with nonobese cases compared to obese ones ( P = 0.01). Ala allele was significantly associated with obese cases ( P = 0.001) and increased risk of occurrence of psoriasis in obese participants by 1.14 folds. Homopolymorphism, heteropolymorphism, and Ala allele were more prevalent among obese cases without metabolic syndrome (MS) than obese cases with MS but without statistical significance. Percentage of decrease of mean Psoriasis Area and Severity Index score before and after 3 months of treatment with NBUVB was higher in cases with heteropolymorphism with no significant difference between homo- and heteropolymorphism. Conclusion: PPAR-γ gene polymorphism is associated with and increased the risk of psoriasis and its associated obesity in Egyptian patients. It has no role in NBUVB response in those patients. Future large-scale studies on different populations are recommended.
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