Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis

This study highlights the subsets of functional rare gene variants involved in pulmonary sarcoidosis, such as, regulations of calcium ions, G-protein-coupled receptor, and immune system including retinoic acid binding. The implicated mechanisms in etiopathogenesis of familial sarcoidosis thus in clude Wnt signalling, inflammation mediated by chemokine and cytokine signalling and cadherin signalling pathways.
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research