Format

Send to

Choose Destination
Nat Commun. 2018 Jan 23;9(1):333. doi: 10.1038/s41467-017-01972-9.

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

Author information

1
Genetic Medicine, Weill Cornell Medicine-Qatar, PO Box 24144, Doha, Qatar. nay2005@qatar-med.cornell.edu.
2
Computer and Systems Engineering, Alexandria University, Alexandria, Egypt. nay2005@qatar-med.cornell.edu.
3
Genetic Medicine, Weill Cornell Medicine-Qatar, PO Box 24144, Doha, Qatar. kfakhro@sidra.org.
4
Sidra Medical Research Center, Department of Human Genetics, PO Box 26999, Doha, Qatar. kfakhro@sidra.org.
5
Genetic Medicine, Weill Cornell Medicine-Qatar, PO Box 24144, Doha, Qatar.
6
Genetic Medicine, Weill Cornell Medicine, New York, NY, 10065, USA.
7
Metabolon Inc, Durham, NC, 27560, USA.
8
Physiology and Biophysics, Weill Cornell Medicine-Qatar, PO Box 24144, Doha, Qatar.
9
Genomics Core, Weill Cornell Medicine-Qatar, PO Box 24144, Doha, Qatar.
10
Physiology and Biophysics, Weill Cornell Medicine-Qatar, PO Box 24144, Doha, Qatar. karsten@suhre.fr.

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.

PMID:
29362361
PMCID:
PMC5780481
DOI:
10.1038/s41467-017-01972-9
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center