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10.1038_s41467-021-21381-3.pdf (1.92 MB)

Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits

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journal contribution
posted on 2022-11-22, 21:16 authored by Gaurav Thareja, The Qatar Genome Program Research (QGPR) Consortium, Yasser Al-Sarraj, Aziz Belkadi, Maryam Almotawa, Karsten Suhre, Omar M. E. Albagha

Clinical laboratory tests play a pivotal role in medical decision making, but little is known about their genetic variability between populations. We report a genome-wide association study with 45 clinically relevant traits from the population of Qatar using a whole genome sequencing approach in a discovery set of 6218 individuals and replication in 7768 subjects. Trait heritability is more similar between Qatari and European populations (r = 0.81) than with Africans (r = 0.44). We identify 281 distinct variant-trait-associations at genome wide significance that replicate known associations. Allele frequencies for replicated loci show higher correlations with European (r = 0.94) than with African (r = 0.85) or Japanese (r = 0.80) populations. We find differences in linkage disequilibrium patterns and in effect sizes of the replicated loci compared to previous reports. We also report 17 novel and Qatari-predominate signals providing insights into the biological pathways regulating these traits. We observe that European-derived polygenic scores (PGS) have reduced predictive performance in the Qatari population which could have implications for the translation of PGS between populations and their future application in precision medicine.

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Published in: Nature Communications
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  • English


Springer Science and Business Media LLC

Publication Year

  • 2021

Institution affiliated with

  • Hamad Bin Khalifa University

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