Influence of ERAP1 and ERAP2 gene polymorphisms on disease susceptibility in different populations
Section snippets
ERAPs play an important role in the antigen presentation process
An important part of the human immune system is the presentation of endogenous peptides by major histocompatibility complex (MHC) class I molecules to CD8+ T cells. This educates the immune system to differentiate between self-derived and foreign antigens, resulting in the clearance of infected or tumor cells. This presentation process is the result of a series of reactions: 1) antigens are degraded in the cytosol into peptide precursors by the proteasome; 2) these precursors translocate, via
Polymorphisms of the ERAP1 gene in different populations
Since the genetic diversity of different ethnicities may contaminate the disease association results, we collected all the SNPs that were reported to be associated with autoimmune disease, infectious disease, and cancer, and compared their distributions across several ethnicities: African (AFR), Admixed American (AMR), East Asian (EAS), European (EUR), and South Asian (SAS) (https://www.ncbi.nlm.nih.gov/snp/?termāÆ=āÆERAP1). Some polymorphic variation distal from the active site of ERAP1 can
Association of ERAP1 alleles and genotypes with autoimmune diseases
In 2007, a genome-wide association study (GWAS) of autoimmune diseases conducted by the Wellcome Trust Case Control Consortium and the Australo-Anglo-American Spondylitis Consortium reported the association of ERAP1 with ankylosing spondylitis (AS) [30]. Then, Australo-Anglo-American Spondyloarthritis C et al. confirmed this result [31]. Studies have indicated that ERAP1 SNPs may influence the creation of antigen-derived peptides for presentation to the immune system, shedding light on the
Conclusion
ERAP is a critical component of the MHC class I antigen presentation and processing complex. ERAPs makes a role in shaping the HLA class I peptidome by trimming peptides to the optimal size for the generation of a proper adaptive immune response. The following are the major conclusions from our review: ā The population differences in genetic structure may influence the disease process at both the SNP and haplotype level. ā” The SNP risk alleles that encode the enzymatic activity of ERAP and
Acknowledgments
This work was supported by a grant from the National Natural Science Foundation of China (31570918, 81573206), Yunnan Applied Basic Research Projects (2016FA034) and the Special Funds for High-Level Health Talents of Yunnan Province (D-201669 and L-201615).
Conflicts of interest
The authors declare that there are no conflicting interests.
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