中国科学院机构知识库网格
Chinese Academy of Sciences Institutional Repositories Grid
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
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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.

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来源:武汉物理与数学研究所

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