Figure 1. Genetic variation, intermediate immunological phenotypes and disease.
Genetic variation (top left) may influence molecular phenotypes, including gene transcription, DNA–DNA interactions, transcription factor binding, histone modifications, DNA methylation, mRNA stability and translation, protein levels, and protein–protein interactions (top right). These cellular processes may affect or be affected by immunophenotypes, such as signalling response, cell-type abundances and cytokine production (bottom right). Immunophenotypes in turn can influence or be influenced by the manifestation of autoimmune diseases and affect different parts of the body (bottom left). DC, dendritic cell; MHC, major histocompatibility complex; TCR, T cell receptor; TH cell, T helper cell; TReg, regulatory T cell.
