A significant study, conducted jointly by Qatar Precision Health Institute, a national center of research and implementation under Qatar Foundation (QF), and the College of Health and Life Sciences at Hamad Bin Khalifa University, a member of QF, has revealed important insights into the genetic basis of diseases in the Qatari population.
Researchers discovered that 3.5 percent of Qataris carry medically actionable genetic variants, a finding that could revolutionize personalized medical treatments in the region.
Published in the European Journal of Human Genetics, the study,- “Analysis of 14,392 Whole Genomes Reveals 3.5 percent of Qataris Carry Medically Actionable Variants,” -analyzed the whole genome data of 14,392 individuals. This research is the third in a series of genetic investigations, building on previous studies that reported 2.3 percent of Qataris with actionable variants in a smaller cohort of 6,045 individuals.
The study identified 248 distinct variants in 50 genes, with the most frequent variants found in the TTN, RYR1, and ATP7B genes. These variants are linked to cardiovascular diseases such as familial hypercholesterolemia and cardiomyopathies, as well as various forms of cancer. (QNA) page 16
