Sidra Medicine, King's College London Joint Research Sheds Light on Genetic Diversity in Qatar

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.

Prof. Khalid Fakhro, Chief Research Officer and Lead Principal Investigator of the study at Sidra Medicine, said: "Over the past decade, large global databases of human genomes have expanded scientific research; however, people of Arab ancestry remain significantly under-represented. This means that many important genetic differences in these populations are not fully understood, creating gaps in global research that could affect the accuracy of future genetic-based healthcare for Arab communities".

He added that the study not only revealed the most comprehensive map of structural variants in an Arab genome to date but also linked these to extensive health data from the Qatar Biobank, providing a unique global resource for researchers studying the genetics of Arab populations and highlighting the importance of studying consanguineous populations to deepen understanding of the human genome.

Most earlier studies of Qatari genomes focused on small changes in the DNA sequence involving one or a few “letters” of the genetic code.

Sidra Medicine noted that while these changes are important, they only reveal a limited part of the full picture. The new study, published in Nature Communications, provides the first comprehensive analysis of structural variants - large-scale changes in DNA that affect long stretches of genetic material, which may be missing, duplicated, or rearranged.

Due to their large size, these structural variants affect much more of the genome, making them highly relevant to human health.

Researchers analyzed more than 6,000 Qatari genomes to study these larger DNA changes, allowing them to determine where these variants occur, how common they are across the five main Qatari sub-populations, and how they relate to health data from the Qatar Biobank, including blood and metabolic indicators.

The analyses revealed over 150,000 structural variants within the study population, with over 12,000 affecting regions of DNA within genes that carry instructions for making proteins. Notably, many of these genes are involved in biological processes related to cardiometabolic health and diabetes, in line with the elevated prevalence of metabolic and cardiovascular diseases in the study population.

Dr. Mario Falchi, Reader in Computational Medicine at King's College London and co-senior author of the study, said: "Structural variants have an important impact on human biology, but they have been largely understudied in global genomics due to the difficulty of detecting them. Through this study, we created the most detailed map of these variants in the Arab population, providing a clearer view of genetic diversity in the region and paving the way for precision medicine".

The researchers highlighted those high levels of consanguinity in the population provided a unique opportunity to study the impact of inheriting the same DNA deletion from both parents. They identified more than 180 genes that had lost their function completely, or were “knocked out”, due to inheriting the same deletion from both parents. The results also showed that the loss of certain genes leads to the absence of the proteins they normally produce in the bloodstream.

These findings underscore the value of studying consanguineous populations to better understand how genetics can influence human health, an approach that is much harder in populations with more distant family relationships.

The Qatar Genome Program has played a pioneering role in ensuring that Arab genomes are included in global genomic databases by providing detailed health information from more than 40,000 Qataris collected through the Qatar Biobank, alongside large-scale genomic data from program participants.

(QNA)