Extensive genome-wide sequencing in the Middle East population reveals genetic risk factors

A group of researchers from the Qatar Foundation reported on the first and largest study of genetic associations in the Middle East, which was published online in Nature Communications – the leading peer-reviewed open access scientific journal published by Nature Research.

A study titled “Sequence of the entire genome in the Middle Eastern Qatari population identifies genetic associations with 45 clinically significant traits” highlights vital information in which there is now a better understanding of genetic risk factors specific to the Arab population, including those shared with other ethnic groups.

Qatar was among the first countries to launch its own major national genome project. Qatar Genome combines complete genome sequencing data with comprehensive phenotypic resources collected at Qatar Biobank and is considered the first, largest and most ambitious population project of its kind in the Middle East.

Such studies can be considered experiments conducted by nature, where natural variations found in the genomes of thousands of Qataris are associated with variations in their respective blood tests. The results of this project are publicly shared, ensuring that the specifics of the Arab genomes are taken into account in future research into new treatments and therapies.

The study – led by researchers from the Hamad Bin Khalifa University of the Foundation (QFU) and partner university QF Weill Cornell Medicine – Qatar (WCM-Q), along with other scientists from the Qatar Genome Research Consortium – includes over 6,000 Qatari individuals with data on the entire genome.

By performing detailed estimates of genetic variants throughout the genome in 6,218 individuals, including data from 45 clinically significant traits, this study identified about 300 independent genetic signals. Some of these signals are predominantly found in the Qatari population. This observation was then confirmed in a further 7,768 respondents from QF’s Qatar Biobank.

Omar Albagha, principal researcher at HBKU’s Faculty of Health and Life Sciences, says: “The study provides new insights into the genetic architecture of clinical laboratory tests and for the first time identifies genetic variations specific to the Qatari population. The study also shows that genetic studies in European populations do not translate well when applied to our population in the Middle East. This advocates further research to define the genetic architecture of the disease in our region. We are excited because the study forms the basis for the application of precision medicine in the Middle East. “

Karsten Suhre, director of Bioinformatics Core at Weill Cornell Medicine – Qatar and joint senior author, says: “It has come a long but successful way from first patient recruitment to Qatar Biobank to analyzing the resulting enormous set of genetic data for associations with clinically significant traits. and we as a consortium are proud to contribute with this document to international efforts to achieve an even better understanding of our human genome. “

“The Qatar Genome Research Consortium has given research groups a platform to study whole genome sequencing and other omik data to reinforce genetic discoveries in this part of the world that would otherwise be underrepresented,” said Professor Said Ismail, director of QA’s genome. Qatar, part of QF research, development and innovation.


Journal reference:

Thareja, G., and others. (2021) Whole genome sequencing in the Middle East population of Qatar identifies genetic associations with 45 clinically significant traits. Nature Communications. doi.org/10.1038/s41467-021-21381-3.