Project description:The heterogeneity in symptomatology and phenotypic profile attributable to COVID-19 is widely unknown. For the first time, our study provides the unique advantage of obtaining samples from the Middle Eastern population, an underrepresented region in genetic studies, and explore new genotypes in this population that will yield to novel genetic association. Specifically, we studied 646 patients in the United Arab Emirates. We describe strong association signals from genes on chromosomes 2, 3, 5, 11 and 13, which carry genes that are expressed in the lung, have been associated with tumour progression, emphysema, airway obstruction, and surface tension within the lung. Identifying genetic variants associated to COVID-19 susceptibility and severity may uncover novel biological insights into disease pathogenesis and identify mechanistic targets for therapeutic and vaccine development.
2022-06-03 | GSE184150 | GEO
Project description:Casein gene cluster variability in dromedary camel population of United Arab Emirates
Project description:Copy number variants (CNVs) represent a substantial source of genomic variation in vertebrates, but the zebrafish reference genome has no annotated CNV information. We developed a zebrafish CNV map using 80 zebrafish genomes from laboratory strains (AB, Tubingen, and WIK) and one native population, identifying 6,080 CNV elements. Overlapping or adjacent CNVs account for 14.6% of the genome, representing four times the CNV levels from other vertebrates including humans. Highest intra-specific CNV levels were observed for Tubingen, a common laboratory strain due to high fecundity. Tubingen variation likely represents higher initial population size and composite population founders initiating the laboratory strain. Extensive zebrafish CNVs, along with associated phenotypic impacts, advocates for increased usage of isogenic strains for genetic studies intended for human disease translation.? 19 zebrafish from 3 laboratory strains and one native population were analyzed using a strain specific reference for each group
Project description:We analyzed samples from fourteen deaf individuals (Affected 1 through 14), fifteen hearing maternally related family members (Unaffected 1-15), six marry-in controls (Controls 1-6) from extended pedigree from Arab-Israeli village, and nine individuals from another Arab-Israeli village (Controls 7-15). All affected and unaffected maternally-related individuals carry homoplasmic mutation in the 12S rRNA gene of the mitochondrial DNA, associated with both non-syndromic and aminoglycosides-induced deafness. Keywords: Comparison of genome-wide expression in cell lines of maternally-related individuals with mitochondrial mutation and controls carrying wild-type mitochondrial chromosome.
