Influence of ERAP1 and ERAP2 gene polymorphisms on disease susceptibility in different populations.
The endoplasmic reticulum aminopeptidases (ERAPs), ERAP1 and ERAP2, makes a role in shaping the HLA class I peptidome by trimming peptides to the optimal size in MHC-class I-mediated antigen presentation and educating the immune system to differentiate between self-derived and foreign antigens. Association studies have shown that genetic variations in ERAP1 and ERAP2 genes increase susceptibility to autoimmune diseases, infectious diseases, and cancers. Both ERAP1 and ERAP2 genes exhibit diverse polymorphisms in different populations, which may influence their susceptibly to the aforementioned diseases. In this article, we review the distribution of ERAP1 and ERAP2 gene polymorphisms in various populations; discuss the risk or protective influence of these gene polymorphisms in autoimmune diseases, infectious diseases, and cancers; and highlight how ERAP genetic variations can influence disease associations.
['Yao|Yufeng|Y|', 'Liu|Nannan|N|', 'Zhou|Ziyun|Z|', 'Shi|Li|L|']
D000626:Aminopeptidases D017951:Antigen Presentation D001327:Autoimmune Diseases D019143:Evolution, Molecular D020022:Genetic Predisposition to Disease D005828:Genetics, Population D005838:Genotype D015395:Histocompatibility Antigens Class I D006801:Humans D015778:Minor Histocompatibility Antigens D020641:Polymorphism, Single Nucleotide D044469:Racial Groups D013329:Structure-Activity Relationship
ERAP1 ERAP2 Polymorphism Disease association Population genetic background