Dataset Information

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

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.

SUBMITTER: Yousri NA

PROVIDER: S-EPMC5780481 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature

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

Yousri Noha A NA Fakhro Khalid A KA Robay Amal A Rodriguez-Flores Juan L JL Mohney Robert P RP Zeriri Hassina H Odeh Tala T Kader Sara Abdul SA Aldous Eman K EK Thareja Gaurav G Kumar Manish M Al-Shakaki Alya A Chidiac Omar M OM Mohamoud Yasmin A YA Mezey Jason G JG Malek Joel A JA Crystal Ronald G RG Suhre Karsten K

Nature communications 20180123 1

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 ...[more]

PMID: 29362361

Dataset Information

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

Publications

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

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