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.
Our translational research program aims to leverage our expertise in genetic therapies and personalized medicine to develop clinical solutions that target the molecular causes of human diseases.
The Department of Genetic Medicine advances treatments and diagnostics through diverse clinical trials, including drug testing and research to better understand diseases.
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.
Our translational research program aims to leverage our expertise in genetic therapies and personalized medicine to develop clinical solutions that target the molecular causes of human diseases.
The Department of Genetic Medicine advances treatments and diagnostics through diverse clinical trials, including drug testing and research to better understand diseases.
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.