Mendelian randomization reveals interactions of the blood proteome and immunome in mitral valve prolapse.

One cause of heart disease is mitral valve prolapse, where heart valve thickening leads to malfunction. Biological factors that contribute to this occurrence are largely unknown. We took advantage of different public resources and independent datasets to conduct different converging analyses to identify relevant biological factors. Using genetic variation, we implemented a technique to assess the role of circulating blood proteins on the risk of the disease. We report that blood proteins involved in the regulation of the immune response promote a dysfunctional tissue repair process of the mitral valve. This study has highlighted a contribution of blood proteins that promote excessive tissue repair leading to mitral valve dysfunction. Several of the identified proteins are potential pharmacological targets that could be singled out in future efforts to halt the progression of the disease.