👤 Zied Abdullaev

Diabetes is a leading cause of death, affecting nearly half a billion adults worldwide. With projections indicating a significant increase in prevalence, understanding the genetic factors that contribute to diabetes, particularly type 2, is crucial. This study investigated the association of specific polymorphisms with type 2 diabetes (T2D) in the Uzbek population. A total of 165 individuals, including 125 patients with T2D and 40 controls, were genotyped for variants located in the The analysis revealed significant associations between these polymorphisms and T2D under various genetic models. The distribution of the genotype frequencies was consistent with the Hardy-Weinberg equilibrium. The findings of this study underscore the importance of ethnic and geographical diversity in genetic studies and contribute to the understanding of T2D in the Uzbek population. Further research is needed to explore the clinical implications of these genetic associations. Show less

DNA methylation is an essential molecular assay for central nervous system (CNS) tumor diagnostics. While some fusions define specific brain tumors, others occur across many different diagnoses. We performed a retrospective analysis of 219 primary CNS tumors with whole genome DNA methylation and RNA next-generation sequencing. DNA methylation profiling results were compared with RNAseq detected gene fusions. We detected 105 rare fusions involving 31 driver genes, including 23 fusions previously not implicated in brain tumors. In addition, we identified 6 multi-fusion tumors. Rare fusions and multi-fusion events can impact the diagnostic accuracy of DNA methylation by decreasing confidence in the result, such as BRAF, RAF, or FGFR1 fusions, or result in a complete mismatch, such as NTRK, EWSR1, FGFR, and ALK fusions. DNA methylation signatures need to be interpreted in the context of pathology and discordant results warrant testing for novel and rare gene fusions. Show less