Approved Research

Assessment of vitamin D and calcium on the risk of sarcoidosis by Mendelian Randomization approach

Lay summary

Aims: To evaluate the causal relationship by vitamin D and calcium in the development of sarcoidosis and adverse secondary outcomes

Scientific rationale: Metabolic abnormalities, such as low levels of vitamin D and high levels of calcium, often occur in sarcoidosis patients. These may be implicated in disease development or the occurrence of adverse outcomes, such as a chronic course of disease and hypercalcemia. Sarcoidosis is a systemic inflammatory disease of unknown cause. Although the disease can affect any organ, it commonly affects the lung and lymph nodes in 90% of the cases.

In general, genetic investigations are useful methods for identifying human disease biomarkers. In the present study, we intend to investigate the genes and genetic variants associated with vitamin D and calcium levels in the development of sarcoidosis and the occurrence of adverse secondary outcomes, thereby measuring the genetic influence of vitamin D and calcium in sarcoidosis via a Mendelian Randomization approach. Mendelian randomization is a genetic methodology that assesses the effects of gene and/or genetic variants associated with one disease onto another disease.

Project duration: 12 months

Public health impact: The short-term goal is to characterize the genetic effects of vitamin D and calcium in the development of sarcoidosis and the occurrence of adverse secondary outcomes. Indeed, our investigation will enable us to identify sarcoidosis patients with a high risk for adverse outcomes, such as chronic disease course and/or hypercalcemia. The long-term goal is to find substantial scientific evidence that can be translated into clinical applications, such as early public health interventions and health promotion.