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DOI | 10.1038/s41467-019-08523-4 |
Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population | |
Yousri, Noha A.1,2; Fakhro, Khalid A.1,3; Robay, Amal1; Rodriguez-Flores, Juan L.4; Mohney, Robert P.5; Zeriri, Hassina1; Odeh, Tala1; Kader, Sara Abdul6; Aldous, Eman K.7; Thareja, Gaurav6; Kumar, Manish6; Al-Shakaki, Alya1; Chidiac, Omar M.1; Mohamoud, Yasmin A.7; Mezey, Jason G.4; Malek, Joel A.1,7; Crystal, Ronald G.4; Suhre, Karsten6 | |
2019-02-11 | |
发表期刊 | NATURE COMMUNICATIONS |
ISSN | 2041-1723 |
出版年 | 2018 |
卷号 | 9 |
文章类型 | Article |
语种 | 英语 |
国家 | Qatar; Egypt; USA |
英文摘要 | 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 highresolution 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. |
领域 | 资源环境 |
收录类别 | SCI-E |
WOS记录号 | WOS:000423057100001 |
WOS关键词 | GENOME-WIDE ASSOCIATION ; PRECISION MEDICINE ; GENETIC-VARIATION ; OTOFERLIN ; DISEASE ; PROTEIN ; DFNB9 ; OTOF ; HETEROGENEITY ; EXPRESSION |
WOS类目 | Multidisciplinary Sciences |
WOS研究方向 | Science & Technology - Other Topics |
URL | 查看原文 |
引用统计 | |
文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/204212 |
专题 | 资源环境科学 |
作者单位 | 1.Weill Cornell Med Qatar, Genet Med, POB 24144, Doha, Qatar; 2.Alexandria Univ, Comp & Syst Engn, Alexandria, Egypt; 3.Sidra Med Res Ctr, Dept Human Genet, POB 26999, Doha, Qatar; 4.Weill Cornell Med, Genet Med, New York, NY 10065 USA; 5.Metabolon Inc, Durham, NC 27560 USA; 6.Weill Cornell Med, Physiol & Biophys, POB 24144, Doha, Qatar; 7.Weill Cornell Med Qatar, Genom Core, POB 24144, Doha, Qatar |
推荐引用方式 GB/T 7714 | Yousri, Noha A.,Fakhro, Khalid A.,Robay, Amal,et al. Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population[J]. NATURE COMMUNICATIONS,2019,9. |
APA | Yousri, Noha A..,Fakhro, Khalid A..,Robay, Amal.,Rodriguez-Flores, Juan L..,Mohney, Robert P..,...&Suhre, Karsten.(2019).Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.NATURE COMMUNICATIONS,9. |
MLA | Yousri, Noha A.,et al."Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population".NATURE COMMUNICATIONS 9(2019). |
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