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From SNPedia

Geno Mag Summary
(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.
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs30187
1000 genomesrs30187
GWAS Ctlgrs30187
Max Magnitude2
? (C;C) (C;T) (T;T) 28

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]

A study of 872 Korean patients found that each T allele was associated with 1.5x higher odds of ankylosing spondylitis. [PMID 19414429]

[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

GWAS snp
PMID [PMID 21743469OA-icon.png]
Title Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
Risk Allele T
P-val 2E-27
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 22253828OA-icon.png] A Functional Variant in ERAP1 Predisposes to Multiple Sclerosis.

[PMID 22632381OA-icon.png] 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 18846218OA-icon.png] Evolutionary signatures of common human cis-regulatory haplotypes.

[PMID 18853133OA-icon.png] 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 19692350OA-icon.png] Investigating the genetic association between ERAP1 and ankylosing spondylitis.

[PMID 19849816OA-icon.png] 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 21281511OA-icon.png] 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 22931917OA-icon.png] 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 25994336OA-icon.png] 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 28083613OA-icon.png] 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 30514861OA-icon.png] 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.