Untargeted Metabolome Quantitative Trait Locus Mapping Associates Variation in Urine Glycerate to Mutant Glycerate Kinase
文献类型：期刊论文
| 作者 | Cazier, Jean-Baptise1; Kaisaki, Pamela J.1; Argoud, Karene1; Blaise, Benjamin J.2; Veselkov, Kirill3; Ebbels, Timothy M. D.3; Tsang, Tsz3; Wang, Yulan4; Bihoreau, Marie-Therese1; Mitchell, Steve C.3,5 |
| 刊名 | JOURNAL OF PROTEOME RESEARCH
 |
| 出版日期 | 2012-02-01 |
| 卷号 | 11期号:2页码:631-642 |
| 关键词 | genetics metabonomics functional genomics quantitative trait locus NMR spectroscopy glycerate glycerate kinase |
| 英文摘要 | With successes of genome-wide association studies, molecular phenotyping systems are developed to identify genetically determined disease-associated biomarkers. Genetic studies of the human metabolome are emerging but exclusively apply targeted approaches, which restricts the analysis to a limited number of well known metabolites. We have developed novel technical and statistical methods for systematic and automated quantification of untargeted NMR spectral data designed to perform robust and accurate quantitative trait locus (QTL) mapping of known and previously unreported molecular compounds of the metabolome. For each spectral peak, six summary statistics were calculated and independently tested for evidence of genetic linkage in a cohort of F2 (129S6xBALB/c) mice. The most significant evidence of linkages were obtained with NMR signals characterizing the glycerate (LOD10-42) at the mutant glycerate kinase locus, which demonstrate the power of metabolomics in quantitative genetics to identify the biological function of genetic variants. These results provide new insights into the resolution of the complex nature of metabolic regulations and novel analytical techniques that maximize the full utilization of metabolomic spectra in human genetics to discover mappable disease-associated biomarkers. |
| WOS标题词 | Science & Technology ; Life Sciences & Biomedicine |
| 类目[WOS] | Biochemical Research Methods |
| 研究领域[WOS] | Biochemistry & Molecular Biology |
| 关键词[WOS] | INSULIN-RESISTANT MICE ; SYSTEMS BIOLOGY ; METABONOMICS |
| 收录类别 | SCI |
| 语种 | 英语 |
| WOS记录号 | WOS:000300458300011 |
| 公开日期 | 2015-07-14 |
| 源URL | [http://ir.wipm.ac.cn/handle/112942/1560]  |
| 专题 | 武汉物理与数学研究所_磁共振应用研究部 |
| 作者单位 | 1.Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England 2.Univ Lyon, FRE CNRS 3008, ENS Lyon, Ctr RMN Tres Hauts Champs UCBL1, F-69100 Villeurbanne, France 3.Univ London Imperial Coll Sci Technol & Med, Dept Surg & Canc, London SW7 2AZ, England 4.Chinese Acad Sci, Wuhan Inst Phys & Math, Wuhan Ctr Magnet Resonance, State Key Lab Magnet Resonance & Atom & Mol Phys, Beijing 100864, Peoples R China 5.Imperial Incubator, Metabometrix Ltd, London SW7 2BP, England 6.Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, Dept Vasc Sci, London SW7 2AZ, England 7.INSERM, UMRS872, Ctr Rech Cordeliers, F-75006 Paris, France |
| 推荐引用方式 GB/T 7714 | Cazier, Jean-Baptise,Kaisaki, Pamela J.,Argoud, Karene,et al. Untargeted Metabolome Quantitative Trait Locus Mapping Associates Variation in Urine Glycerate to Mutant Glycerate Kinase[J]. JOURNAL OF PROTEOME RESEARCH,2012,11(2):631-642. |
| APA | Cazier, Jean-Baptise.,Kaisaki, Pamela J..,Argoud, Karene.,Blaise, Benjamin J..,Veselkov, Kirill.,...&Gauguier, Dominique.(2012).Untargeted Metabolome Quantitative Trait Locus Mapping Associates Variation in Urine Glycerate to Mutant Glycerate Kinase.JOURNAL OF PROTEOME RESEARCH,11(2),631-642. |
| MLA | Cazier, Jean-Baptise,et al."Untargeted Metabolome Quantitative Trait Locus Mapping Associates Variation in Urine Glycerate to Mutant Glycerate Kinase".JOURNAL OF PROTEOME RESEARCH 11.2(2012):631-642. |
入库方式： OAI收割
来源：武汉物理与数学研究所
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