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The Department of Genetic Medicine at Weill Cornell leads a dynamic and innovative translational research program, advancing diverse fields such as Genetic Therapy and Personalized Medicine.
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.
| Publication Type | Academic Article |
| Authors | Yousri N, Fakhro K, Robay A, Rodriguez-Flores J, Mohney R, Zeriri H, Odeh T, Kader S, Aldous E, Thareja G, Kumar M, Al-Shakaki A, Chidiac O, Mohamoud Y, Mezey J, Malek J, Crystal R, Suhre K |
| Journal | Nat Commun |
| Volume | 9 |
| Issue | 1 |
| Pagination | 333 |
| Date Published | 01/23/2018 |
| ISSN | 2041-1723 |
| Keywords | Arabs, Exome, Genome-Wide Association Study, Metabolome, Quantitative Trait Loci |
| 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. |
| DOI | 10.1038/s41467-017-01972-9 |
| PubMed ID | 29362361 |
| PubMed Central ID | PMC5780481 |