The Relationship Between Genetic Factors and the Development of Cardiac Sarcoidosis

Abstract

Sarcoidosis is a disease that causes inflammatory lumps (granulomas) in various organs, such as lungs, eyes, and skin. While some cases improve on their own, others can become chronic and challenging to treat. Although the exact cause and development process of sarcoidosis are not fully understood, immune responses to bacteria and other triggers are suspected to play a role. Previous studies have shown association between sarcoidosis and HLA (human leukocyte antigen), a molecule essential for the immune system.

Among the organs affected by sarcoidosis, heart is a relatively rare site. However, cardiac sarcoidosis can cause heart failure and arrhythmias, often resulting in a poorer prognosis than sarcoidosis affecting other organs. While there are several reports on the association of HLA with systemic sarcoidosis, no studies have explored the link between HLA and the development of cardiac sarcoidosis, nor its association with heart function and prognosis.

Our research group has previously examined the relationship between HLA types and cardiac function by focusing on the binding affinity of HLA proteins. In this study, we aim to expand our research to include more patients to further clarify the connection between specific HLA types, other genetic factors, and the development of cardiac sarcoidosis as well as heart-related symptoms.

Perspectives

If new genes involved in the onset and severity of cardiac sarcoidosis are discovered, we may be able to predict disease progression in patients diagnosed with cardiac sarcoidosis. Additionally, studying genetic factors could allow us to detect and treat cardiac involvement at an earlier stage.

Comments from principal researcher

Koshiro Kanaoka (Department of Medical and Health Information／Biobank Management, National Cerebral and Cardiovascular Center)

Cardiac sarcoidosis remains one of the cardiovascular diseases with unclear mechanisms and poor outcomes. To provide valuable information for patients with cardiac sarcoidosis, we are collaborating with national centers to collect cases and advance our research on this important topic.

Shared Researchers

Akane Ishida (Respiratory medicine, National Center for Global Health and Medicine)

Takuya Harada (Rheumatology, National Center for Global Health and Medicine)