Qatar genome research consortium reports first and largest comprehensive genetic association study in middle east

A group of researchers at Qatar Foundation have reported the first and largest genetic association study in the Middle East, that has been published online in  Nature Communications– a leading a peer-reviewed, open access, scientific journal published by Nature Research.

The study titled “Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits” highlights a vital piece of information wherein now there is a better understanding of the genetic risk factors that are specific to the Arab population, including those that are shared with other ethnicities.

This means that going forward we are better aware of which genetic markers – unique to the Arab population – indicate their risk to develop a certain disease. This will significantly impact our ability to diagnose and manage certain diseases early.

This new knowledge will contribute to fill-in the gap on the global map of human genomes, by representing large segments of the Arabian ancestral populations which are overwhelmingly underrepresented.

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

By performing detailed assessments of genetic variants across the whole genome in 6,218 individuals, comprising data from 45 clinically relevant traits, this study identified about 300 independent genetic signals. Some of these signals were predominantly found in the Qatari population. This observation was then confirmed in a further 7,768 subjects from QF’s Qatar Biobank.

Genetic association studies are done to investigate whether a genetic variant is associated with a disease. Once a new genetic association is identified, researchers then use this information to develop better detection, treatment and prevention strategies for the disease.

The findings from the study can be extrapolated to many diseases such as diabetes, cardiovascular disease or even susceptibility to COVID-19, however though, further studies are needed to identify the Qatar-specific genetic variations involved in these diseases. The research team is currently extending this genetic association study to diabetes, cardiovascular disease and susceptibility to COVID-19.

Qatar was among the first countries to launch its own large-scale, national genome project. Qatar Genome combines whole genome sequencing data with comprehensive phenotypic resource collected at Qatar Biobank, and is considered the first, largest and most ambitious population-based projects of its kind in the Middle East.

These kinds of studies can be considered as experiments conducted by nature, where the natural variation found in the genomes of thousands of Qataris is linked to variations in their respective blood tests. The study focused on blood tests which are routinely used to assess patients in clinical practice and to follow their treatments. For example, cholesterol levels obtained from blood tests are indicative of the risk of a heart attack.

Omar Albagha, a senior author of the paper and a Professor of Genomic and Precision Medicine at the College of Health and Life Sciences at HBKU, says: “The study provides new insights into the genetic architecture of clinical laboratory tests and identifies for the first time genetic variations that are specific to the population of Qatar. The study also shows that findings from genetic studies in European populations don’t translate well when applied to our population in the Middle East. This argues for further studies to define the genetic architecture of diseases in our region. We are excited because the study represents a foundation for the implementation of precision medicine in the Middle East.”  

Karsten Suhre, Director of Bioinformatics Core at WCM-Q, and joint senior author on the paper, says: “It has been a long but successful journey from the first participant enrolment at Qatar Biobank to analyzing the resulting enormous genetic data set for associations with clinically relevant traits, and we as a consortium are proud to contribute with this paper to the international effort of obtaining an even better understanding of our human genome.”

“Qatar Genome Research Consortium gave research groups the platform to study whole genome sequencing and other omics data to empower the genetic discoveries in this part of the world, which otherwise would be under-represented,” said Professor Said Ismail, Director of QF’s Qatar Genome Programme, part of QF Research, Development, and Innovation.