12 research outputs found
A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology
Lack of association between MTHFR C677T and MTHFR A1298C genetic polymorphisms and mental retardation
The effect of 677C → T and 1298A → C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects
Relationship between reduced folate carrier gene polymorphism and non-syndromic cleft lip and palate in Indian population
Polymorphisms in the folate-metabolizing genes MTR, MTRR, and CBS and breast cancer risk
The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome
The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case–control study and a meta-analysis
Folate Deficiency Results in Alteration in Intestinal Brush Border Membrane Composition and Enzyme Activities in Weanling Rats
Concept mapping One-Carbon Metabolism to model future ontologies for nutrient–gene–phenotype interactions
Advances in the development of bioinformatic tools continue to improve investigators’ ability to interrogate, organize, and derive knowledge from large amounts of heterogeneous information. These tools often require advanced technical skills not possessed by life scientists. User-friendly, low-barrier-to-entry methods of visualizing nutrigenomics information are yet to be developed. We utilized concept mapping software from the Institute for Human and Machine Cognition to create a conceptual model of diet and health-related data that provides a foundation for future nutrigenomics ontologies describing published nutrient–gene/polymorphism–phenotype data. In this model, maps containing phenotype, nutrient, gene product, and genetic polymorphism interactions are visualized as triples of two concepts linked together by a linking phrase. These triples, or “knowledge propositions,” contextualize aggregated data and information into easy-to-read knowledge maps. Maps of these triples enable visualization of genes spanning the One-Carbon Metabolism (OCM) pathway, their sequence variants, and multiple literature-mined associations including concepts relevant to nutrition, phenotypes, and health. The concept map development process documents the incongruity of information derived from pathway databases versus literature resources. This conceptual model highlights the importance of incorporating information about genes in upstream pathways that provide substrates, as well as downstream pathways that utilize products of the pathway under investigation, in this case OCM. Other genes and their polymorphisms, such as TCN2 and FUT2, although not directly involved in OCM, potentially alter OCM pathway functionality. These upstream gene products regulate substrates such as B12. Constellations of polymorphisms affecting the functionality of genes along OCM, together with substrate and cofactor availability, may impact resultant phenotypes. These conceptual maps provide a foundational framework for development of nutrient–gene/polymorphism–phenotype ontologies and systems visualization