Common Genetic Variants in SIRT1 Gene Promoter and Type 2 Diabetes Mellitus in Saudi Arabia.

BACKGROUND: Type 2 diabetes mellitus (T2DM) is common in Saudi Arabia and represents a major health concern. Silent information regulator of transcription-1 (SIRT1) positively influences insulin sensitivity and might contribute to the pathogenesis of T2DM. This study aimed to investigate the frequency of two common functional single nucleotide polymorphisms (SNPs) in the promoter region of SIRT1; rs12778366 (T>C) and rs3758391 (T>C) in Saudi Arabian population and examine any association with T2DM. METHODS: A total of 445 volunteers were divided into 224 healthy controls and 221 patients previously diagnosed with T2DM. Genomic DNA was extracted from all samples and genotyped for SIRT1 rs12778366 and rs3758391 SNPs by TaqMan RT-PCR allelic discrimination assay. Logistic regression analysis was used to establish any relationship between these polymorphisms and T2DM. RESULTS: In the total study population, rs12778366 genotype frequencies were TT (89.2%), TC (10.3%), and CC (0.45%) and for the rs3758391 they were TT (16.4%), TC (44.5%), and CC (39.1%). The distribution of these genotypes, in both polymorphisms, were similar among T2DM and controls. Logistic regression analysis confirmed the lack of association between the presence of CC or CT variants and T2DM for rs12778366 and rs3758391 SNP (OR = 0.98 [CI]: 0.55 - 1.75; p = 0.999 and OR= 0.75; [CI]: 0.45 - 1.24; p = 0.313), respectively. CONCLUSIONS: This study revealed the frequency of SIRT1 rs12778366 and rs3758391 SNPs in our population and reported no association between these polymorphisms and the risk for T2DM. This finding might add to the growing body of literature exploring the genetics of T2DM.

COVID-19 associated coagulopathy: A bibliometric investigation.

Infection with SARS-CoV-2 initiates an immune-hemostatic response. While both systems are intimately connected and necessary for an efficient immune response to contain the infection, excessive coagulation activation might exceed the valuable benefits by causing thrombotic consequences and excessive inflammation. This biological response is new to clinicians and researchers, and accordingly, tremendous studies have been conducted on coagulopathy and its relationship to COVID-19 disease during this pandemic. Therefore, it takes a research insight from a bibliometric perspective to determine research hotspots and trends of COVID-19 associated coagulopathy (C19-CA). The analysis relies on the Scopus database for bibliographic content and Visualization of Similarities viewer software to map bibliometric data of C19-CA. Our study finds the most eminent authors, journals, institutions, funding organizations, and countries that publish in the C19-CA. Additionally; this research employs bibliometric analysis of co-authorship, co-citations, bibliographic coupling, and co-occurrence of keywords. A total of 2242 studies were retrieved, and the number of annual publications of C19-CA showed remarkable growth. The top-publishing authors on C19-CA are Smadja, D.M., Diehl, J.L., and Gendron, N (France). The total number of articles published in English in these three years was 1241, with the original article accounting for 99.8% and conference papers accounting for 0.2%. Huazhong University of Science and Technology (China) is the top-productive institution, with the US being the top-publishing country. Journal of Thrombosis and Thrombolysis received the highest number of original articles. The research results were mainly published in the fields of Medicine, Biochemistry, Genetics, and Molecular Biology, Immunology and Microbiology. Yuanyuan Li, who is (China), is the top-collaborating author. China and its authors have the highest number of citations. Keywords' co-occurrence analyses of the authors and all keywords revealed the following themes in C19-CA; abnormal coagulation parameters, pulmonary coagulopathy, venous and arterial thrombotic disorders, distinct features of coagulopathy, inflammation, and thrombosis in COVID-19, and anticoagulants and thrombolytic therapies. By combining bibliometric analysis with VOSviewer software, we identified C19-CA's leaders, collaborating institutions, and research hotspots, as well as give references for future research paths.

Frequency of the rs2015 (T>G) and rs2241703 (G>A) polymorphisms in the miRNA-SIRT2 gene in type 2 diabetes mellitus in Saudi Arabia.

OBJECTIVES: To investigate the prevalence of rs2015 (T>G) and rs2241703 (G>A) polymorphisms in the miRNA-SIRT2 gene in Saudi Arabia and their possible associations with type 2 diabetes mellitus (T2DM). METHODS: Blood samples were collected from 428 participants from Jazan University Hospital, Jazan, Saudi Arabia between September 2021 and June 2022 and subjected to TaqMan single-nucleotide polymorphisms (SNP) genotyping assay for rs241703 (G>A) and rs2015 (G>T). Genotype frequencies were determined in control (n=217). RESULTS: The A allele of rs2241703 was undetected in our population, and all samples carried the GG genotype. The rs2015 SNP frequency was 29.4% for GG, 45.6% for GT, and 24% for TT. However, logistic regression analysis of the dominant inheritance model showed no association between the T allele and T2DM calculated odds ratio [OR]=0.80, 95% confidence interval=0.53 to 1.20, p=0.301). CONCLUSION: Although rs2241703 SNP of Sirtuins 2 is not present, rs2015 SNP is highly prevalent in Saudi Arabia, but no direct link was identified with T2DM.

Protein S: a Central Regulator of Blood Coagulation.

BACKGROUND: Protein S is a central regulator of coagulation as it critically participates in down-regulation of both extrinsic and intrinsic pathways of the coagulation cascade. In this review, we aim to provide an update on protein S and its anticoagulant functions as a central hemostatic regulator. METHODS: Electronic databases including, Google, Google Scholar, PMC, PubMed, Science Direct, and Scopus were rigorously searched using the terms protein S, hemostasis, natural anticoagulants, regulators of coagulation, and coagulation inhibitors for the completion of this descriptive review. RESULTS: Literature review shows that protein S is a potent cofactor for activated protein C (APC) in the regulation of the intrinsic pathway and a cofactor for tissue factor pathway inhibitor (TFPI) in the regulation of the extrinsic pathway. The strong association between protein S deficiency either hereditary or acquired and increased risk for venous thrombosis indicates the important and central role of protein S in controlling the initiation and propagation phase of coagulation cascade and that protein S is an important determinant for optimal activity of both APC and TFPI in coagulation regulation. CONCLUSIONS: Available evidence suggests that the role of protein S in the down-regulation of blood coagulation is mainly mediated through its high affinity binding to negatively charged phospholipid surfaces. This high affinity binding to negatively charged phospholipids helps bring the anticoagulant proteins to the membranes, resulting in efficient and targeted regulation of coagulation. In the shade of current COVID-19 pandemic, protein S deficiency has been found to be a leading cause of thrombotic complications associated with COVID-19.

Association of TNF-α rs1800629 with Adult Acute B-Cell Lymphoblastic Leukemia.

TNF−α influences lymphomagenesis by upregulating proinflammatory and antiapoptotic pathways. In this study, we evaluated the frequency of TNF−α rs1800629 (−308 G>A) polymorphism in newly diagnosed adult patients with acute lymphoblastic leukemia (ALL) and its correlation with age at diagnosis, gender and subtype of ALL. In this case control study, a total of 330 individuals were recruited, including 165 newly diagnosed adult patients with ALL, from the Radiation and Isotope Center in Khartoum (RICK) and 165 healthy normal controls. TNF−α rs1800629 polymorphism was tested through allele-specific polymerase chain reaction (PCR) assay. The frequency of the rs1800629 GA genotype was high (70.9% vs. 60%, OR = 1.84) in the patient group as compared to healthy controls, whereas GG and AA genotypes did not exhibit any statistically significant difference between controls and patients. Based on subtype, GG and GA rs1800629 genotypes showed increased risk of B-ALL (OR 0.46 and 2.12, respectively), whereas rs1800629 GG, GA and AA genotypes did not show any disease association with T-ALL (p > 0.05). Age at diagnosis and gender did not exhibit any association of rs1800629 with ALL in the patient group. In conclusion, rs1800629 is associated with high risk of adult B-ALL, with an insignificant effect of age at diagnosis and gender.

Rasch and Confirmatory Factor Analyses of the Arabic Version of the Diabetes Self-Management Scale (DSMS): An Intercultural Approach.

The current study was designed to validate the Arabic version of the Diabetes Self-Management Scale (DSMS) using Rasch and confirmatory factor analyses. This included person and item fit, separation, and reliability; rating scale functionality to evidence substantive validity; unidimensional structure to evidence structural validity; and item technical quality to evidence content validity. The study was conducted between September 2021 and March 2022. Utilizing AMOS-based confirmatory factor analysis (CFA), the study also assured the dimensionality of the DSMS. The participants were 103 diabetic patients in Saudi Arabia with a mean age of 44.72 years (standard deviation = 17.35). The analysis was performed using a trichotomous rating scale, and only one item exhibited a misfit (DSMS14). The item difficulty range was -1.0 to +1.0 logits, while the person's ability range was -3.0 to +3.0 logits. The first construct proved one Rasch dimension, which was explained and further analyzed using AMOS-CFA for the one-factor model. The DSMS was shown to be beneficial as a screening instrument for patient-reported diabetes self-management, despite several flaws that need to be addressed to improve the scale further.