|(C;C)||1.2||Normal low risk (0.1%) for ankylosing spondylitis.|
|(C;T)||1.5||1.4x higher risk for Ankylosing Spondylitis.|
|(T;T)||2||2x higher risk for Ankylosing Spondylitis.|
rs30187 is one of several SNPs in the ERAP1 gene that has been shown in a large (over 1,000 Caucasian patients) study to be associated with ankylosing spondylitis. Each T allele appears to increase the odds by about 1.4x (p=3.4x10e-10). [PMID 17952073, PMID 18037607]
[PMID 19404951] Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis
[PMID 19917163] Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population
[PMID 20032103] Association of ARTS1 Gene Polymorphisms with Ankylosing Spondylitis in the Hungarian Population: The rs27044 Variant Is Associated with HLA-B*2705 Subtype in Hungarian Patients with Ankylosing Spondylitis
|Title||Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.|
|Odds Ratio||None None|
[PMID 22034108] Radiographic severity in ankylosing spondylitis is associated with polymorphism in large multifunctional peptidase 2 (LMP2) in the SPARCC cohort
[PMID 22253828] A Functional Variant in ERAP1 Predisposes to Multiple Sclerosis.
[PMID 22632381] ERAP1 genetic variations associated with HLA-B27 interaction and disease severity of syndesmophytes formation in Taiwanese ankylosing spondylitis
[PMID 21229357] The association between seven ERAP1 polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis involving 8,530 cases and 12,449 controls
[PMID 18846218] Evolutionary signatures of common human cis-regulatory haplotypes.
[PMID 18853133] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
[PMID 19433412] Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis.
[PMID 19692350] Investigating the genetic association between ERAP1 and ankylosing spondylitis.
[PMID 19849816] Genetics of rheumatic disease.
[PMID 20595269] Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms.
[PMID 20843824] Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection.
[PMID 21281511] Subtype specific genetic associations for juvenile idiopathic arthritis: ERAP1 with the enthesitis related arthritis subtype and IL23R with juvenile psoriatic arthritis.
[PMID 21865284] ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population.
[PMID 21877190] Associations between ERAP1 polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis.
[PMID 22355039] Endoplasmic reticulum aminopeptidase 1 (ERAP1) exhibits functionally significant interaction with HLA-B27 and relates to subtype specificity in ankylosing spondylitis.
[PMID 22896742] Investigating the genetic association between ERAP1 and spondyloarthritis
[PMID 23093722] Exploring ankylosing spondylitis-associated ERAP1, IL23R and IL12B gene polymorphisms in subphenotypes of psoriatic arthritis
[PMID 23800305] Functional variants of ERAP1 gene are associated with HLA-B27 positive spondyloarthritis
[PMID 22931917] Genetic association with ERAP1 in psoriasis is confined to disease onset after puberty and not dependent on HLA-C*06.
[PMID 25740711] ERAP1 gene expression is influenced by non-synonymous polymorphisms associated with predisposition to spondyloarthritis
[PMID 25994336] Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1
[PMID 28083616] ERAP1 and ERAP2 Gene Variations Influence the Risk of Psoriatic Arthritis in Romanian Population.
[PMID 28083613] Single Nucleotide Polymorphisms of the ERAP1 Gene and Risk of NSCLC: A Comparison of Genetically Distant Populations, Chinese and Caucasian.
[PMID 28161768] ERAP1 rs30187 single nucleotide polymorphism does not confer disease susceptibility in North Indian children with enthesitis-related arthritis.
[PMID 28651467] ERAP1 and HLA-C interaction in inflammatory bowel disease in the Spanish population.
[PMID 28867178] Associations of ERAP1 coding variants and domain specific interaction with HLA-C∗06 in the early onset psoriasis patients of India.
[PMID 29183862] The association of ERAP1 and ERAP2 single nucleotide polymorphisms and their haplotypes with psoriasis vulgaris is dependent on the presence or absence of the HLA-C∗06:02 allele and age at disease onset.
[PMID 30514861] Epistatic Interaction of ERAP1 and HLA-B*51 in Iranian Patients with Behçet's Disease.
[PMID 30794838] ERAP1-ERAP2 haplotypes are associated with ankylosing spondylitis in Polish patients.
[PMID 31523044] Analysis of 47 non-MHC Ankylosing Spondylitis Susceptibility Loci Reveals Shared Associated Variants across Caucasians and Han Chinese.
[PMID 31711818] Evaluation of ERAP1 gene single nucleotide polymorphisms in immunomodulation of pro-inflammatory and anti-inflammatory cytokines profile in ankylosing spondylitis.
[PMID 31790864] From structure to function for the characterization of ERAP1 active site in Behçet syndrome. A novel polymorphism associated with known gene variations.