Neda Bogari

• PhD
• Professor at Umm al-Qura University

Background Coronary artery disease (CAD) is one of the common genetic and clinical risk factors associated with cardiovascular and multifactorial disorder. ATP-binding cassette transporter A1 (ABCA1) gene plays an important role in lipid metabolism and in multiple studies associated with CAD. However, more studies are needed to identify the exact r...

Systemic steroids are used to treat acute graft-versus-host disease (aGVHD) caused by allogenic bone marrow transplantation (allo-BMT); however, their prolonged use results in complications. Hence, new agents for treating aGVHD are required. Recently, a new compound A (CpdA), with anti-inflammatory activity and reduced side effects compared to ster...

Background: Different common gene variants were related to coronary artery disease (CAD) in many studies. Yet, the relation of these loci to the severity of CAD is not completely elucidated. Methods: We enrolled 520 subjects (315 CAD cases and 205 controls). CAD presence and extension were assessed by coronary angiography (CAG). Genotyping of fi...

Purpose Coronary artery disease (CAD) is one of the most important leading causes of morbidity and mortality worldwide. Few studies have been carried out in the Saudi population regarding the association of rs10757278 polymorphism with CAD. This study aimed to investigate the association of the rs10757278 polymorphism with CAD in Saudi population....

Background Thrombophilia is a substantial source of indisposition and mortality in several countries, including Arab populations. Deep venous thrombosis (DVT) with or without pulmonary embolism (PE) is the prevalent clinical manifestation of thrombophilia. While many genetic risk factors for DVT are known, almost all associated with hemostasis, man...

Multiple genes have been implicated to have a role in asthma predisposition by association studies. Pediatric patients often manifest a more extensive form of this disease and a particularly severe disease course. It is likely that genetic predisposition could play a more substantial role in this group. This study is aimed at identifying the spectr...

The current COVID-19 pandemic, caused by severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2), has raised significant economic, social, and psychological concerns. The rapid spread of the virus, coupled with the absence of vaccines and antiviral treatments for SARS-CoV-2, has galvanized a major global endeavor to develop effective vaccines....

Attention-deficit/hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorders. Several studies have confirmed the co-existence of other neuropsychiatric disorders with ADHD. Out of 106 individuals suspected to have ADHD, eight Saudi Arabian pediatric patients were diagnosed with ADHD using a dual assessment procedure based...

Molecular pathology and personalized medicine are still being evolved in Saudi Arabia, and genetic testing for the detection of mutations as cancer markers have not been established in the diagnostics laboratories in Saudi Arabia. The aim of the present study was to determine the prevalence of isocitrate dehydrogenase (IDH1 and IDH2) mutations and...

Lipoprotein Lipase (LPL) is known to be a key enzyme for lipid metabolism specifically in an enzymatic glycoprotein which provide tissues without fatty-acids and eliminates triglycerides (TG) by the circulation. Mutations in LPL were proven to cause alteration in fractions within lipoprotein, causing the development of atherosclerosis which predisp...

Background: Multiple genes have been implicated to have a role in asthma predisposition by association studies. Paediatric patients often manifest more extensive disease and a particularly severe disease course. It is likely that genetic predisposition could play a more substantial role in this group. This study aims to identify the spectrum of rar...

Polycystic ovarian syndrome (PCOS) in reproductive-aged women is identified to be one of the endocrine disorders. This heterogeneous disorder is categorized through oligo-anovulation and hyperandrogenemia. National institutes of health and Rotterdam criterions were used to diagnose PCOS women. Type 2 Diabetes (T2D) is one of the complications in PC...

Familial hypercholesterolemia (FH) is an autosomal dominant disease most often caused by mutations in the low-density lipoprotein receptor (LDLR) gene, which consists of 18 exons spanning 45 kb and codes for a precursor protein of 860 amino acids. Mutations in the LDLR gene lead to a reduced hepatic clearance of LDL as well as a high risk of corona...

Introduction: Food allergies (FA) have been increasing dramatically over the past 25 years and the peanut allergy has been noticed more likely for a half-decade as well. The prevalence of FA in children was found to be 10%, which is high compared with adults. Limited periodic

Background: Eczema is also known as atopic dermatitis is well-known for the skin disease globally. In Saudi Arabia, exome sequencing studies have not been documented. The purpose of this study was to scrutinize the disease causing mutations in children affected with eczema with exome sequencing in the Saudi population. Methods: We recruited rand...

Objective: To determine whether individual or interactive single nucleotide polymorphisms (SNPs) may influence the development of autism spectrum disorder (ASD). Methods: DNA from buccal cells of 212 participants (110 cases and 102 controls) were subjected to TaqMan genotyping of the HTR2A rs7997012, HTR2C rs6318, SLC6A4 rs3813034, ANKK1 rs1800497,...

Hemophilia A is an X-linked recessive hemorrhagic disorder caused by variants in the F8 gene. To identify known and novel causative variants in hemophilia A, we have carried out genetic analysis among Saudi patients. Twenty-one patients, who were negative for inv-1/inv-22, were selected for analysis by next generation sequencing, thereafter confirm...

Hemophilia A is an X-linked recessive hemorrhagic disorder caused by variants in the F8 gene. To identify known and novel causative variants in hemophilia A, we have carried out genetic analysis among Saudi patients. Twenty-one patients, who were negative for inv-1/inv-22, were selected for analysis by next generation se-quencing, thereafter confir...

Whole exome sequencing (WES) is an innovative, precise procedure established on the next generation sequencing and has rapidly become esteemed in medical genetics. We have used WES to study patient with suspected genetic conditions with no apparent recognizable familial hypercholesterolemia (FH). In the tested proband, multiple causative mutations...

Background Elevated plasma triglycerides (TGs) are widely used as a major cardiovascular risk predictor and are thought to play an important role in the progression of coronary heart disease (CHD). It has been demonstrated that lipid lowering was associated with lower mortality in patients with CHD. The present study therefore aimed to investigate...

Introduction: In the Kingdom of Saudi Arabia molecular pathology and molecular diagnostic laboratories are in evolving stages, especially in LDTs (Laboratory Developed Tests). Molecular diagnostic testing enhances the use of therapeutic products in a more precise manner to treat patients. Next Generation Sequencing (NGS) strategies provide a fast,...

Background: Ultrasonography (US) is being recognized as a traditional way of the diagnosis of various thyroid disorders, and this will help in detecting the thyroid tumors in early stage. Thyroid nodules are common and usually benign; steps to diagnose malignancy should include a careful clinical evaluation, laboratory tests, a thyroid US exam and...

Background Hemophilias A and B are X-linked bleeding disorders caused by mutations in the factor VIII and factor IX genes, respectively. Our objective was to identify the spectrum of mutations of the factor VIII and factor IX genes in Saudi Arabian population and determine the genotype and phenotype correlations by molecular dynamics (MD) simulatio...

Background: Coronary heart disease (CHD) is a major and increasing clinical problem which compromised by obesity it’s well global known health issue. The aim of the study is to correlate body mass index (BMI) to obesity risk factors and investigate the SNP in Apoliprotein A-V c.553G > T (GLY185CYS) among CHD patients. Subjects and Methods: An obser...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly observed in human males. It is a genetic disorder affecting the red blood cells. The diagnosis of G6PD is usually based on blood analysis and there is no specific molecular or genetic test. The complete gene sequence of G6PD is known for different ethnicities. Known single nucleotide p...

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly observed in human males. It is a genetic disorder affecting the red blood cells. The diagnosis of G6PD is usually based on blood analysis and there is no specific molecular or genetic test. The complete gene sequence of G6PD is known for different ethnicities. Known single nucleotide p...

Hepatic fibrosis detection is considered as a major independent predictor of treatment response in patients with chronic hepatitis C virus (HCV). Liver biopsy was represented as the gold standard method for evaluating liver fibrosis and has prone sampling errors and completions. Right now, usages of non-invasive predictors of fibrosis are considere...

Objectives: Single nucleotide polymorphisms (SNPs) have been reported in different autistic populations. Here we present the first association study investigating SNPs of some genes; serotonin receptor (HTR2A IVS2A>G rs7997012; HTR2C 68G>C rs6318), serotonin transporter (SLC6A4 rs3813034), ankyrin repeat and kinase domain containing 1 (ANKK1 rs1800...

Background Several environmental and genetic factors are associated with high levels of lipids in obese patients. Apolipoprotein B (ApoB) is the major protein component of low-density lipoproteins (LDL), very-low density lipoproteins (VLDL) and chylomicrons and plays a central role in lipid metabolism. Several apoB restriction fragment length polym...

Autosomal recessive spinal muscular atrophy (SMA) is, after cystic fibrosis, the second most common fatal monogenic disorder. Depending on the clinical type, SMA causes early death or increasing disability in childhood. Here, we report a three month old Saudi girl presented with a history of coughing and respiratory distress who had previous admiss...

We evaluated whether TAP1-rs1135216 (p.637D>G) and PSMB9-rs17587 (p.60R>H) were significantly associated with the risk and severity of vitiligo among Saudi patients. One hundred seventy-two subjects were genotyped for the TAP1-rs1135216 and PSMB9-rs17587 variants using endonuclease digestions of amplified genomic DNA. The TAP1-rs1135216 and PSMB9-r...

Original Article Background: Apolipoprotein B (ApoB) is the major protein component of chylomicrons, low-density lipoproteins (LDL), very low density lipoproteins (VLDL) and intermediate-density lipoproteins (IDL) and is the ligand for the LDL receptor. ApoB plays an important role in the maintenance of cholesterol homeostasis and lipoprotein metab...

Objective: We evaluated whether the methylenetetrahydrofolate reductase (MTHFR) 677C>T marker influences the risk and severity of Alzheimer's disease (AD) and whether AD is associated with homocysteine, vitamin B12, and cholesterol levels in Egypt. Methods: Forty-three Alzheimer's cases and 32 non-AD controls were genotyped for the 677C>T polymo...

Background: Glutathione S-transferases (GSTs) are an important family of isoenzymes involved in the detoxification of many environmental carcinogens. The GSTs null deletion polymorphism of the GSTs genes that lead to diminished of enzymatic activity have been associated with increased susceptibility to develop several cancers.GSTM1 & GSTT1 status h...

Abstract Reported to date, strong evidence exists in multiple studies for genetic predisposing in the development of diabetic nephropathy, and no studies addressed this issue among Egyptian population. The results of angiotensin converting enzyme gene (ACE) in the susceptibility to nephropathy in type 1 diabetes with nephropathy are conflicting. We...

We have updated the dataset of the molecular spectrum of the β-thalassemia (β-thal) in Upper Egypt. Buccal swabs were analyzed from 94 unrelated patients with β-thal major (β-TM) using reverse dot-blot and multiplex amplification refractory mutation system-polymerase chain reaction ARMS-PCR). The most frequent mutation was IVS-I-110 (G>A) (57%). The...

ATP-binding-cassette-transporter-A1 (ABCA1) plays a pivotal role in intracellular cholesterol removal, exerting a protective effect against atherosclerosis. ABCA1 gene severe mutations underlie Tangier disease, a rare Mendelian disorder that can lead to premature coronary artery disease (CAD), with age of CAD onset being two decades earlier in muta...

p>To test the hypothesis that ABCA1 gene common variants are genetic factors that influence lipid levels and coronary heart disease in the general population, DNA from 1164 patients with angiographically confirmed coronary heart disease were genotyped for a number of polymorphisms in the ABCA1 gene. In patients not on statin treatment, HDL-cholest...