Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Introduction: This study addresses the rising cardiovascular disease (CVD) rates in the United Arab Emirates (UAE) by investigating the occurrence and impact of genetic variants in CVD-related genes.

Methods: We collected all genes linked to heritable CVD from public and diagnostic databases and mapped them to their corresponding biological processes and molecular pathways. We then evaluated the types and burden of genetic variants within these genes in 343 individuals from the Emirati Mendelian Study Cohort and 3,007 national electronic health records.

Spectrum of genetic variants in bilateral sensorineural hearing loss.

Hearing loss (HL) is an impairment of auditory function with identified genetic forms that can be syndromic (30%) or non-syndromic (70%). HL is genetically heterogeneous, with more than 1,000 variants across 150 causative genes identified to date. The genetic diagnostic rate varies significantly depending on the population being tested.

Utilizing Pharmacogenomic Data for a Safer Use of Statins among the Emirati Population.

Background: Statins are the most prescribed lipid-lowering drugs worldwide. The associated adverse events, especially muscle symptoms, have been frequently reported despite their perceived safety. Three pharmacogenes, the solute carrier organic anion transporter family member 1B1 (), ATP-binding cassette subfamily G member 2 (), and cytochrome P450 2C9 () are suggested as safety biomarkers for statins.

Utilizing machine learning for survival analysis to identify risk factors for COVID-19 intensive care unit admission: A retrospective cohort study from the United Arab Emirates.

Background: The current situation of the unprecedented COVID-19 pandemic leverages Artificial Intelligence (AI) as an innovative tool for addressing the evolving clinical challenges. An example is utilizing Machine Learning (ML) models-a subfield of AI that take advantage of observational data/Electronic Health Records (EHRs) to support clinical decision-making for COVID-19 cases. This study aimed to evaluate the clinical characteristics and risk factors for COVID-19 patients in the United Arab Emirates utilizing EHRs and ML for survival analysis models.

The diversity and clinical implications of genetic variants influencing clopidogrel bioactivation and response in the Emirati population.

Background: Clopidogrel is a widely prescribed prodrug that requires activation via specific pharmacogenes to exert its anti-platelet function. Genetic variations in the genes encoding its transporter, metabolizing enzymes, and target receptor lead to variability in its activation and platelet inhibition and, consequently, its efficacy. This variability increases the risk of secondary cardiovascular events, and therefore, some variations have been utilized as genetic biomarkers when prescribing clopidogrel.

Case report: Birk-Landau-Perez syndrome linked to the gene-identification of additional cases and expansion of the phenotypic spectrum.

Birk-Landau-Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in the gene, initially reported in 2017 in six individuals belonging to a large Bedouin kindred. The gene encodes a putative mitochondrial zinc transporter with ubiquitous expression, the highest found in the brain, kidney, and skeletal muscle. Since the first report, only one additional affected patient has been described, but there were some inconsistencies, such as hearing loss, failure to thrive, and neuroimaging findings between the clinical presentation of the disease in the Bedouin family and the second patient.

Novel compound heterozygous variants (c.971delA/c.542C > T) in causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) are linked to genetic variants since the first reported case in 2015. encodes for the neutral amino acid transporter ASCT1 which is involved in the transportation of serine between astrocytes and neurons. Although most of the reported cases are of Ashkenazi Jewish ancestry, SPATCCM has also been reported in Irish, Italian, Czech, Palestinian, and Pakistani ethnicities.

Lupus nephritis: A focus on the United Arab Emirates and the potential role of genetics.

Lupus nephritis (LN) is a severe manifestation of systemic lupus erythematosus (SLE), characterized by chronic and progressive inflammation of the kidneys. As with many other autoimmune diseases, LN is a multifactorial disease caused by genetic and environmental factors. Globally, LN can affect around 60% of SLE patients, and it was observed to be less frequent and severe in Caucasian patients compared to other ethnic groups, including Arabs.

Stratified analyses of genome wide association study data reveal haplotypes for a candidate gene on chromosome 2 (KIAA1211L) is associated with opioid use in patients of Arabian descent.

Background: Genome Wide Association Studies (GWAS) have been conducted to identify genes and pathways involved in development of opioid use disorder. This study extends the first GWAS of substance use disorder (SUD) patients from the United Arab Emirates (UAE) by stratifying the study group based on opioid use, which is the most common substance of use in this cohort.

Methods: The GWAS cohort consisted of 512 (262 case, 250 controls) male participants from the UAE.

A case-control genome wide association study of substance use disorder (SUD) identifies novel variants on chromosome 7p14.1 in patients from the United Arab Emirates (UAE).

Genome wide association studies (GWASs) have provided insights into the molecular basis of the disorder in different population. This study presents the first GWAS of substance use disorder (SUD) in patients from the United Arab Emirates (UAE). The aim was to identify genetic association(s) that may provide insights into the molecular basis of the disorder.

The frequency of rs1076560 and rs1799971 in substance use disorder patients from the United Arab Emirates.

Background: Dopaminergic and opioid systems are involved in mediating drug reward and reinforcement of various types of substances including psychoactive compounds. Genes of both systems have been candidate for investigation for associations with substance use disorder (SUD) in various populations. This study is the first study to determine the allele frequency and the genetic association of the rs1076560 SNP and rs1799971 SNP variants in clinically diagnosed patients with SUD from the United Arab Emirates (UAE).

The pattern of substance use disorder in the United Arab Emirates in 2015: results of a National Rehabilitation Centre cohort study.

Background: Substance use disorder (SUD) is a global problem with no boundaries, which also afflicts individuals from countries of the Arabian Peninsula. Data from this region is limited. In an effort to develop targeted prevention and intervention initiatives in the United Arab Emirates (UAE), it was necessary to identify the nature of substance use by describing the characteristics of those using different substances.