Large-scale cross-trait genetic analysis highlights shared genetic backgrounds of autoimmune diseases.

Abstract

Disorders associated with the immune system burden multiple organs, although the shared biology exists across the diseases. Preceding family-based studies reveal that immune diseases are heritable to varying degrees, providing the basis for immunogenomics. The recent cost reduction in genetic analysis intensively promotes biobank-scale studies and the development of frameworks for statistical genetics. The accumulating multi-layer omics data, including genome-wide association studies (GWAS) and RNA-sequencing at single-cell resolution, enable us to dissect the genetic backgrounds of immune-related disorders. Although autoimmune and allergic diseases are generally categorized into different disease categories, epidemiological studies reveal the high incidence of autoimmune and allergic disease complications, suggesting the shared genetics and biology between the disease categories. Biobank resources and consortia cover multiple immune-related disorders to accumulate phenome-wide associations of genetic variants and enhance researchers to analyze the shared and heterogeneous genetic backgrounds. The emerging post-GWAS and integrative multi-omics analyses provide genetic and biological insights into the multicategorical disease associations.