Abstract
Recent advances in molecular biology have provided important insights into the genetic background of various inflammatory diseases. In particular, genome-wide association studies of inflammatory diseases have revealed genetic loci that play critical roles in the pathology of inflammation. Whole-exome and whole-genome sequencing analyses have also identified more than 300 causative genes for primary immunodeficiency diseases (PIDs). Some genetic loci that are associated with inflammatory diseases are mutated in PIDs, suggesting close relationships between inflammation and PIDs. Inflammatory diseases for which genetic associations have been described include inflammatory bowel disease (IBD), multiple sclerosis, rheumatoid arthritis, type 1 diabetes mellitus, and systemic lupus erythematosus. Herein, I discuss about the genetic interactions between IBD and PIDs.
Highlights
Most diseases are associated with imbalances between intrinsic genetic factors and extrinsic environmental factors
Whole-exome and whole-genome sequencing studies have identified more than 300 genes that are causative for primary immunodeficiency diseases (PIDs) [1] and some of these are genetic loci that have been associated with inflammatory diseases
Inflammatory diseases such as inflammatory bowel disease (IBD), multiple sclerosis, rheumatoid arthritis, type 1 diabetes mellitus, and systemic lupus erythematosus may be related to PIDs
Summary
Most diseases are associated with imbalances between intrinsic genetic factors and extrinsic environmental factors. Genome-wide association studies (GWAS) of inflammatory diseases have revealed genetic loci that play central roles in pathological inflammation. Whole-exome and whole-genome sequencing studies have identified more than 300 genes that are causative for primary immunodeficiency diseases (PIDs) [1] and some of these are genetic loci that have been associated with inflammatory diseases. Inflammatory diseases such as inflammatory bowel disease (IBD), multiple sclerosis, rheumatoid arthritis, type 1 diabetes mellitus, and systemic lupus erythematosus may be related to PIDs. In this review, genetic interactions between IBD and PIDs are discussed
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