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