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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

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Greater Middle East Variome Consortium, Scott, Eric M, Halees, Anason, Itan, Yuval, Spencer, Emily G, He, Yupeng, Azab, Mostafa Abdellateef, Gabriel, Stacey B, Belkadi, Aziz, Boisson, Bertrand, Abel, Laurent, Clark, Andrew G, Alkuraya, Fowzan S, Casanova, Jean-Laurent, Gleeson, Joseph G·2016·Nature Genetics

DOI 10.1038/ng.3592PMC PMC5019950

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Abstract

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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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: Scott, Eric M
Halees, Anason
Itan, Yuval
Spencer, Emily G
He, Yupeng
Gabriel, Stacey B
Belkadi, Aziz
Boisson, Bertrand
Abel, Laurent
Clark, Andrew G
Alkuraya, Fowzan S
Casanova, Jean-Laurent
Gleeson, Joseph G
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2016-07-18
Volume: 48
Issue: 9
Pages: 1071-1076
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng.3592
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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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

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