Abstract
Autoimmune diseases are complex conditions that are characterized by an immune response against self. Although they are a group of heterogeneous disorders and their etiology has not been fully elucidated yet, a number of these conditions share some common characteristics such as inflammation and the presence of autoantibodies and self-reactive T cells.
Ten years ago, a better understanding of human genetic variation and advances in high-throughput genotyping methods has made possible the advent of genome-wide association studies (GWASs). Well-powered GWASs including thousands of individuals and millions of single nucleotide polymorphisms (SNPs) have now been carried out for all the main autoimmune diseases. These GWASs have revealed that many susceptibility risk loci are shared among autoimmune diseases, supporting shared etiological mechanisms.
In this chapter, we summarize the main and more robustly validated shared autoimmunity risk loci found in recent GWAS. More specifically, we discuss the involvement of the HLA and other shared risk loci such as the tumor necrosis factor cytokine and receptor superfamilies, IL23R and IL2RA, and genes involved in the interferon signature and the modulation of T- and B-cell response.
Ten years ago, a better understanding of human genetic variation and advances in high-throughput genotyping methods has made possible the advent of genome-wide association studies (GWASs). Well-powered GWASs including thousands of individuals and millions of single nucleotide polymorphisms (SNPs) have now been carried out for all the main autoimmune diseases. These GWASs have revealed that many susceptibility risk loci are shared among autoimmune diseases, supporting shared etiological mechanisms.
In this chapter, we summarize the main and more robustly validated shared autoimmunity risk loci found in recent GWAS. More specifically, we discuss the involvement of the HLA and other shared risk loci such as the tumor necrosis factor cytokine and receptor superfamilies, IL23R and IL2RA, and genes involved in the interferon signature and the modulation of T- and B-cell response.
| Original language | English |
|---|---|
| Title of host publication | Genetics of Rare Autoimmune Diseases |
| Publisher | Springer Nature |
| Pages | 221-236 |
| Number of pages | 16 |
| ISBN (Electronic) | 978-3-030-03934-9 |
| ISBN (Print) | 978-3-030-03933-2 |
| Publication status | Published - 2019 |
Keywords
- Genome- wide association studies
- Single nucleotide polymorphisms (SNP)
- Shared genetic factors
- shared immune pathways
- Cytokines
- Interferon
- T cells
- B cells