Sidra medicine: Sidra Medicine, in collaboration with King's College London, has produced the most detailed map to date of large-scale genomic differences in the Qatari population, as part of research funded by the Qatar Research, Development and Innovation Council. The research provides a precise study of the genetic diversity among Arab populations and explores the relationship between genetic variations and health and disease.
According to Qatar News Agency, Prof. Khalid Fakhro, Chief Research Officer and Lead Principal Investigator of the study at Sidra Medicine, emphasized the under-representation of Arab ancestry in global genomic databases, which creates gaps in research affecting genetic-based healthcare accuracy for Arab communities. The study reveals the most comprehensive map of structural variants in an Arab genome, linked to extensive health data from the Qatar Biobank, offering a unique resource for researchers studying Arab genetics.
Most earlier studies of Qatari genomes concentrated on small genetic changes. Sidra Medicine highlighted that while these changes are important, they only offer a limited perspective. The new study, published in Nature Communications, presents the first comprehensive analysis of structural variants-large-scale DNA changes affecting long stretches of genetic material, which may be missing, duplicated, or rearranged. Due to their size, these variants are highly relevant to human health.
Researchers examined over 6,000 Qatari genomes to study larger DNA changes, identifying where these variants occur, their prevalence across the five main Qatari sub-populations, and their relation to health data from the Qatar Biobank, covering blood and metabolic indicators. The analyses uncovered over 150,000 structural variants, with more than 12,000 impacting genes involved in cardiometabolic health and diabetes, reflecting the high prevalence of metabolic and cardiovascular diseases in the study population.
Dr. Mario Falchi from King's College London, co-senior author of the study, stated the importance of structural variants in human biology and their understudied nature in global genomics due to detection challenges. The study provides a detailed map of these variants in the Arab population, enhancing understanding of regional genetic diversity and advancing precision medicine.
The research also took advantage of high levels of consanguinity in the population to study DNA deletions inherited from both parents. Researchers identified over 180 genes completely 'knocked out', showing that losing certain genes leads to the absence of their associated proteins in the bloodstream. These findings highlight the value of studying consanguineous populations for understanding genetics' impact on health, a challenging task in populations with more distant family ties.
The Qatar Genome Program has been instrumental in incorporating Arab genomes into global databases, providing detailed health information from over 40,000 Qataris collected through the Qatar Biobank, alongside large-scale genomic data from program participants.