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Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.

Author
Abstract
:

Metabolomics-genome-wide association studies (mGWAS) have uncovered many metabolic quantitative trait loci (mQTLs) influencing human metabolic individuality, though predominantly in European cohorts. By combining whole-exome sequencing with a high-resolution metabolomics profiling for a highly consanguineous Middle Eastern population, we discover 21 common variant and 12 functional rare variant mQTLs, of which 45% are novel altogether. We fine-map 10 common variant mQTLs to new metabolite ratio associations, and 11 common variant mQTLs to putative protein-altering variants. This is the first work to report common and rare variant mQTLs linked to diseases and/or pharmacological targets in a consanguineous Arab cohort, with wide implications for precision medicine in the Middle East.

Year of Publication
:
2018
Journal
:
Nature communications
Volume
:
9
Issue
:
1
Number of Pages
:
333
Date Published
:
2018
URL
:
http://dx.doi.org/10.1038/s41467-017-01972-9
DOI
:
10.1038/s41467-017-01972-9
Short Title
:
Nat Commun
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