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Approved research

Phenome-wide association study (PheWAS) for the investigation of the associations between serum vitamin D levels and multiple health outcomes

Principal Investigator: Dr Evropi Theodoratou
Approved Research ID: 10775
Approval date: January 1st 2016

Lay summary

We propose to run a phenome-wide association study (PheWAS) to investigate the associations between single nucleotide polymorphisms (SNPs) related to serum vitamin D levels, serum vitamin D levels and multiple clinical outcomes. For these analyses we will need access GWAS data, serum levels of vitamin D as well as incident and prevalent cases of specific health outcomes including autoimmune diseases, cancer outcomes, cardiovascular outcomes, cognitive disorders, infectious diseases, metabolic disorders, pregnancy-related outcomes, skeletal and other outcomes. The associations between vitamin D concentrations and various conditions and diseases have been assessed in a large and rapidly expanding literature. In addition to observational studies, numerous randomised trials have examined the effect of vitamin D supplementation on a range of outcomes. However, the composite literature is often confusing and has led to heated debates about the optimal concentrations of vitamin D and related guidelines for supplementation. If causal, associations between low vitamin D concentrations and disease outcomes might be of great importance for public health, as vitamin D deficiency has been found to be highly prevalent in populations residing at high latitudes or leading an indoors oriented lifestyle. A large number of genome wide association studies (GWAS) have been performed that led to the identification of genetic polymorphisms that increase the risk of disease development. PheWAS is an alternative and complementary approach that has recently been developed to query genotype-phenotype associations. In this application we propose to apply the PheWAS methodology in order to explore the association between vitamin D related SNPs identified through GWAS and multiple health outcomes. In addition, we propose to expand the PheWAS methodology to investigate the association between serum vitamin D levels and multiple health outcomes. We request to get specific genetic, risk factor and clinical data for the full cohort.