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Approved research

Characterizing the genetic determinants of mineral metabolism: A UK Biobank study

Principal Investigator: Dr Fadil Hannan
Approved Research ID: 45742
Approval date: May 7th 2019

Lay summary

Aims: The purpose of this study is to identify common variations within the human genome, which influence the concentration of minerals in the blood such as calcium and phosphate. Alterations in these minerals are also linked to major diseases such as osteoporosis and cardiovascular disease, and this study will investigate whether genetic variations that regulate blood minerals also contribute to the occurrence or severity of these major diseases. Scientific rationale: Calcium and phosphate are required to mineralise bone, and this process is regulated by alkaline phosphatase, which is a protein produced by bone cells. Disturbances in the blood concentrations of calcium, phosphate and alkaline phosphatase have been linked to osteoporosis, which is a common disorder characterised by reduced bone strength and an increased susceptibility to broken bones. Alterations in blood calcium and phosphate also predispose to cardiovascular diseases such as heart attacks and angina. The circulating concentrations of calcium, phosphate and alkaline phosphatase in healthy individuals are considered to be influenced by multiple different variations within the human genome, however, many of these genetic variations remain to be identified. We will undertake a genome-wide association study, which is a technique used to rapidly scan the entire genome for variations that occur commonly (in >1% of the population). We will then evaluate whether these genetic variations are linked to calcium, phosphate and alkaline phosphatase concentrations in blood samples collected from UK Biobank participants. Genetic variations that are found to be linked to these blood mineral parameters will be further evaluated for associations with osteoporosis and cardiovascular diseases. Project duration: 24 months Public health impact: Increased understanding of the genetic factors that control the blood concentrations of calcium, phosphate and alkaline phosphatase may lead to the discovery of new drug targets for disorders of bone and mineral metabolism, and also for cardiovascular diseases. Furthermore, this study has the potential to advance personalised medicine by identifying individuals that may be susceptible to side effects from drugs that influence mineral metabolism such as calcium supplements, vitamin D preparations, and osteoporosis drugs.