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Influence of ERAP1 and ERAP2 gene polymorphisms on disease susceptibility in different populations |
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| Authors: | Yufeng Yao Nannan Liu Ziyun Zhou Li Shi |
| Affiliation: | 1. Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming 650118, China;2. Yunnan Key Laboratory of Vaccine Research & Development on Severe Infectious Disease, Kunming 650118, China |
| Abstract: | 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. |
| Keywords: | Corresponding author at: Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming 650118, China. AAU Acute anterior uveitis AFR African AMR Admixed American AS ankylosing spondylitis BD Behcet's disease BSCR Birdshot chorioretinopathy BU Birdshot Uveitis CC Cervical carcinoma CD Crohn's disease CT Congenital Toxoplasmosis EAS East Asian ER endoplasmic reticulum ERA enthesitis-related arthriti ERAPs endoplasmic reticulum aminopeptidases EUR European GWAS genome-wide association study HCV Hepatitis C virus chronic infection HLA human leucocyte antigen HIV human immunodeficiency virus IBD inflammatory bowel disease JIA Juvenile Idiopathic Arthritis KD Kawasaki disease LMP molecular weight peptide MHC major histocompatibility complex MS multiple sclerosis NSCLC non-small cell lung carcinoma PE Preeclampsia PLC peptide-loading complex PS psoriasis PsA psoriatic arthritis PsC psoriatic without arthritis PV psoriasis vulgaris RA rheumatoid arthritis SAS South Asian SLE systemic lupus erythematosus SNP single nucleotide polymorphisms SpA spondyloarthritis T1D Type 1 Diabetes TAP transporter associated with antigen presentation ERAP1 ERAP2 Polymorphism Disease association Population genetic background |
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