基因与一炭单位和Hcy的关系.pdf

Genes Nutr (2014) 9:419 DOI 10.1007/s12263-014-0419-1 RESEARCH PAPER Concept mapping One-Carbon Metabolism to model future ontologies for nutrient–gene–phenotype interactions A. C. Joslin • R. Green • J. B. German • M. C. Lange Received: 19 October 2013 / Accepted: 10 July 2014 / Published online: 5 August 2014 Springer-Verlag Berlin Heidelberg 2014 Abstract Advances in the development of bioinformatic substrates, as well as downstream pathways that utilize tools continue to improve investigators’ ability to interro- products of the pathway under investigation, in this case gate, organize, and derive knowledge from large amounts of OCM. Other genes and their polymorphisms, such as TCN2 heterogeneous information. These tools often require and FUT2, although not directly involved in OCM, poten- advanced technical skills not possessed by life scientists. tially alter OCM pathway functionality. These upstream User-friendly, low-barrier-to-entry methods of visualizing gene products regulate substrates such as B12. Constella- nutrigenomics information are yet to be developed. We tions of polymorphisms affecting the functionality of genes utilized concept mapping software from the Institute for along OCM, together with substrate and cofactor avail- Human and Machine Cognition to create a conceptual ability, may impact resultant phenotypes. These conceptual model of diet and health-related data that provides a foun- maps provide a foundational framework for development of dation for future nutrigenomics ontologies describing pub- nutrient–gene/polymorphism–phenotype ontologies and lished nutrient–gene/polymorphism–phenotype data. In this systems visualization. model, maps containing phenotype, nutrient, gene product, and geneti