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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Open accessAbstract
The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia, has resulted in an elevated burden of recessive disease. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized 'genetic purging'. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics.
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“DNA sequencing in such families is an effective approach for identifying cases of ASD that are attributable to rare homozygous variants (Morrow et al., 2008; Scott et al., 2016).”
From Getting to the cores of autism (2019) · cites this paper as Scott et al., 2016
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Metadata
- Authors
- Greater Middle East Variome Consortium, Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., Abel, L., Clark, A. G., Alkuraya, F. S., Casanova, J.-L., & Gleeson, J. G.
- Affiliations
- Howard Hughes Medical Institute (US)
- King Faisal Specialist Hospital & Research Centre (SA)
- Rockefeller University (US)
- Broad Institute (US)
- Hôpital Necker-Enfants Malades (FR)
- Cornell University (US)
- Alfaisal University (SA)
- Corresponding author
- Gleeson, Joseph G
- ORCID
- Venue
- Nature Genetics
- Published
- 2016-07-18
- Volume
- 48
- Issue
- 9
- Pages
- 1071-1076
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC5019950
- OpenAlex
- W2489911374
- Cited by
- 376
- References
- 69
- Citations by year
- 2026: 19 · 2025: 25 · 2024: 44 · 2023: 44 · 2022: 52 · 2021: 52 · 2020: 48 · 2019: 31 · 2018: 37 · 2017: 18 · 2016: 6
- FWCI
- 25.02
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- AYBU AVESIS (submittedVersion)
- CINECA IRIS Institutional Research Information System (University of Bari Aldo Moro) (submittedVersion, cc-by-nc-nd)
- Funders
- Howard Hughes Medical Institute
- National Institutes of Health (UL1TR000043, UL1TR001866)
- National Human Genome Research Institute (U54HG006504, U54HG003067)
- National Institute of Allergy and Infectious Diseases (U01AI088685, R01AI088364, P01AI061093, U01AI109697, R21AI107508, R37AI095983)
- National Institute of Neurological Disorders and Stroke (R01NS048453, P30NS047101)
- National Center for Research Resources (UL1RR024143)
- National Center for Advancing Translational Sciences
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD070494)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- genetic variation, consanguinity, runs of homozygosity, recessive disease, disease gene discovery, population admixture, founder populations, exome sequencing, genetic architecture, monogenic disorders
- MeSH terms
- Consanguinity, Disease, Genes, Recessive, Genetic Markers, Genetics, Population, Homozygote, Humans, Middle East, Genetic Variation, Cohort Studies, Genome, Human, White People, Asian People, Genome-Wide Association Study, Exome, Human Migration
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