Massive underrepresentation of Arabs in genomic studies of common disease

Romit Bhattacharya; NingNing Chen; Injeong Shim; Hiroyuki Kuwahara; Xin Gao; Fowzan S Alkuraya; Akl C Fahed

doi:10.1186/s13073-023-01254-8

Massive underrepresentation of Arabs in genomic studies of common disease

Genome Med. 2023 Nov 22;15(1):99. doi: 10.1186/s13073-023-01254-8.

Authors

Romit Bhattacharya^#^{1

2

3}, NingNing Chen^#^{4

5}, Injeong Shim^{2

3

6}, Hiroyuki Kuwahara^{4

5}, Xin Gao^#^{4

5}, Fowzan S Alkuraya^#⁷, Akl C Fahed^#^{8

9

10}

Affiliations

¹ Department of Medicine, Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street | CPZN 3.128, Boston, MA, 02114, USA.
² Department of Medicine, Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
³ Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁴ Computational Biosciences Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.
⁵ Computer Science Program, Computer, Electrical and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Kingdom of Saudi Arabia.
⁶ Department of Digital Health, Samsung Medical Center, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul, Republic of South Korea.
⁷ Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia. [email protected].
⁸ Department of Medicine, Cardiovascular Research Center, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street | CPZN 3.128, Boston, MA, 02114, USA. [email protected].
⁹ Department of Medicine, Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. [email protected].
¹⁰ Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA. [email protected].

^# Contributed equally.

Abstract

Arabs represent 5% of the world population and have a high prevalence of common disease, yet remain greatly underrepresented in genome-wide association studies, where only 1 in 600 individuals are Arab. We highlight the persistent and unaddressed underrepresentation of Arabs in genomic databases and discuss its impact on public health genomics and missed opportunities for biological discovery.

Keywords: Arab; Diversity; GWAS; Genomic; Middle East; Polygenic score; Underrepresentation.

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Arabs* / genetics
Genome
Genome-Wide Association Study*
Genomics
Humans

Abstract

Publication types

MeSH terms

Grants and funding