Clinical utility of polygenic scores for cardiometabolic disease in Arabs

Injeong Shim; Hiroyuki Kuwahara; Ning Ning Chen; Mais O. Hashem; Lama AlAbdi; Mohamed Abouelhoda; Hong Hee Won; Pradeep Natarajan; Patrick T. Ellinor; Amit V. Khera; Xin Gao; Fowzan S. Alkuraya; Akl C. Fahed

doi:10.1038/s41467-023-41985-1

Clinical utility of polygenic scores for cardiometabolic disease in Arabs

Injeong Shim, Hiroyuki Kuwahara, Ning Ning Chen, Mais O. Hashem, Lama AlAbdi, Mohamed Abouelhoda, Hong Hee Won, Pradeep Natarajan, Patrick T. Ellinor, Amit V. Khera, Xin Gao^*, Fowzan S. Alkuraya^*, Akl C. Fahed^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

Arabs account for 5% of the world population and have a high burden of cardiometabolic disease, yet clinical utility of polygenic risk prediction in Arabs remains understudied. Among 5399 Arab patients, we optimize polygenic scores for 10 cardiometabolic traits, achieving a performance that is better than published scores and on par with performance in European-ancestry individuals. Odds ratio per standard deviation (OR per SD) for a type 2 diabetes score was 1.83 (95% CI 1.74–1.92), and each SD of body mass index (BMI) score was associated with 1.18 kg/m² difference in BMI. Polygenic scores associated with disease independent of conventional risk factors, and also associated with disease severity—OR per SD for coronary artery disease (CAD) was 1.78 (95% CI 1.66–1.90) for three-vessel CAD and 1.41 (95% CI 1.29–1.53) for one-vessel CAD. We propose a pragmatic framework leveraging public data as one way to advance equitable clinical implementation of polygenic scores in non-European populations.

Original language	English (US)
Article number	6535
Journal	Nature Communications
Volume	14
Issue number	1
DOIs	https://doi.org/10.1038/s41467-023-41985-1
State	Published - Dec 2023

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© 2023, Springer Nature Limited.

ASJC Scopus subject areas

General Chemistry
General Biochemistry, Genetics and Molecular Biology
General Physics and Astronomy

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10.1038/s41467-023-41985-1

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title = "Clinical utility of polygenic scores for cardiometabolic disease in Arabs",

abstract = "Arabs account for 5% of the world population and have a high burden of cardiometabolic disease, yet clinical utility of polygenic risk prediction in Arabs remains understudied. Among 5399 Arab patients, we optimize polygenic scores for 10 cardiometabolic traits, achieving a performance that is better than published scores and on par with performance in European-ancestry individuals. Odds ratio per standard deviation (OR per SD) for a type 2 diabetes score was 1.83 (95% CI 1.74–1.92), and each SD of body mass index (BMI) score was associated with 1.18 kg/m2 difference in BMI. Polygenic scores associated with disease independent of conventional risk factors, and also associated with disease severity—OR per SD for coronary artery disease (CAD) was 1.78 (95% CI 1.66–1.90) for three-vessel CAD and 1.41 (95% CI 1.29–1.53) for one-vessel CAD. We propose a pragmatic framework leveraging public data as one way to advance equitable clinical implementation of polygenic scores in non-European populations.",

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doi = "10.1038/s41467-023-41985-1",

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AU - AlAbdi, Lama

AU - Abouelhoda, Mohamed

AU - Won, Hong Hee

AU - Natarajan, Pradeep

AU - Ellinor, Patrick T.

AU - Khera, Amit V.

AU - Gao, Xin

AU - Alkuraya, Fowzan S.

AU - Fahed, Akl C.

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N2 - Arabs account for 5% of the world population and have a high burden of cardiometabolic disease, yet clinical utility of polygenic risk prediction in Arabs remains understudied. Among 5399 Arab patients, we optimize polygenic scores for 10 cardiometabolic traits, achieving a performance that is better than published scores and on par with performance in European-ancestry individuals. Odds ratio per standard deviation (OR per SD) for a type 2 diabetes score was 1.83 (95% CI 1.74–1.92), and each SD of body mass index (BMI) score was associated with 1.18 kg/m2 difference in BMI. Polygenic scores associated with disease independent of conventional risk factors, and also associated with disease severity—OR per SD for coronary artery disease (CAD) was 1.78 (95% CI 1.66–1.90) for three-vessel CAD and 1.41 (95% CI 1.29–1.53) for one-vessel CAD. We propose a pragmatic framework leveraging public data as one way to advance equitable clinical implementation of polygenic scores in non-European populations.

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Clinical utility of polygenic scores for cardiometabolic disease in Arabs

Abstract

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UN SDGs

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