Study of the effect of genetic variants in vitamin and mineral metabolic pathways on health outcomes
Principal Investigator: Dr Raya Khanin
Approved Research ID: 30281
Approval date: July 1st 2017
The proposed study aims at investigating associations between single nucleotide polymorphisms in metabolic pathways of essential vitamins and minerals and health conditions. Clinical deficiencies in essential micro-nutrients are becoming rare in modern society. However, even marginal imbalances, that are often difficult to monitor, may have long-term impact on health outcomes. Scientific studies point out that higher levels of some vitamins (e.g. vitamin C) may be associated with reduced risk of total mortality, and even cancer-specific mortality. Hence, identification of high-risk population based on DNA data, family history and lifestyle, will help to ensure adequate intake of specific vitamins and minerals. The goal of the project is to validate associations between genetic variations, vitamin/mineral imbalances and medical outcomes, to study lifestyle factors that modify the potential effect of these genetic variations, and to identify at risk population. Numerous genome-wide association studies (GWAS) and smaller scale targeted studies identified genetic variants associated with either levels of essential vitamins/minerals, or their conversion to active form. Additionally, functional SNPs in genes that play role in metabolic pathways for vitamins/minerals can be identified through bioinformatics analysis. We propose to explore associations between multiple SNPs related to each of the essential vitamins and minerals and multiple health outcomes. For association studies, we will use multivariate approach that incorporates lifestyle factors. We will also apply a pathway-based approach that is more powerful in uncovering associations between genetic variations and outcomes. We would like to request access to full cohort as the goal of the study to analyze the effect of sets of variations in genes that play role in metabolic pathways for vitamins and minerals and multiple health conditions and diseases.