{{Rsnum
|rsid=30187
|Gene=ERAP1
|Chromosome=5
|position=96788627
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4114
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=ERAP1
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 46.9 | 44.2 | 8.8
| HCB | 24.1 | 52.6 | 23.4
| JPT | 38.1 | 40.7 | 21.2
| YRI | 34.9 | 43.8 | 21.2
| ASW | 31.6 | 50.9 | 17.5
| CHB | 24.1 | 52.6 | 23.4
| CHD | 22.9 | 56.9 | 20.2
| GIH | 35.6 | 44.6 | 19.8
| LWK | 34.5 | 49.1 | 16.4
| MEX | 39.7 | 41.4 | 19.0
| MKK | 21.8 | 53.8 | 24.4
| TSI | 42.2 | 40.2 | 17.6
| HapMapRevision=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 Auto
|PMID=19404951
|Title=Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis
}}

{{PMID Auto
|PMID=19917163
|Title=Association of IL23R and ERAP1 genes with ankylosing spondylitis in a Portuguese population
}}
{{PMID Auto
|PMID=20032103
|Title=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
}}

{{PMID Auto GWAS
|PMID=21743469
|Trait=None
|Title=Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
|RiskAllele=T
|Pval=2E-27
|OR=None
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=22034108
|Title=Radiographic severity in ankylosing spondylitis is associated with polymorphism in large multifunctional peptidase 2 (LMP2) in the SPARCC cohort
}}

{{PMID Auto
|PMID=22253828
|Title=A Functional Variant in ERAP1 Predisposes to Multiple Sclerosis.
|OA=1
}}

{{PMID Auto
|PMID=22632381
|Title=ERAP1 genetic variations associated with HLA-B27 interaction and disease severity of syndesmophytes formation in Taiwanese ankylosing spondylitis
|OA=1
}}

{{PMID Auto
|PMID=21229357
|Title=The association between seven ERAP1 polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis involving 8,530 cases and 12,449 controls
}}

{{PMID Auto
|PMID=18846218
|Title=Evolutionary signatures of common human cis-regulatory haplotypes.
|OA=1
}}

{{PMID Auto
|PMID=18853133
|Title=Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19433412
|Title=Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis.
}}

{{PMID Auto
|PMID=19692350
|Title=Investigating the genetic association between ERAP1 and ankylosing spondylitis.
|OA=1
}}

{{PMID Auto
|PMID=19849816
|Title=Genetics of rheumatic disease.
|OA=1
}}

{{PMID Auto
|PMID=20595269
|Title=Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms.
}}

{{PMID Auto
|PMID=20843824
|Title=Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection.
}}

{{PMID Auto
|PMID=21281511
|Title=Subtype specific genetic associations for juvenile idiopathic arthritis: ERAP1 with the enthesitis related arthritis subtype and IL23R with juvenile psoriatic arthritis.
|OA=1
}}

{{PMID Auto
|PMID=21865284
|Title=ERAP1 polymorphisms and haplotypes are associated with ankylosing spondylitis susceptibility and functional severity in a Spanish population.
}}

{{PMID Auto
|PMID=21877190
|Title=Associations between ERAP1 polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis.
}}

{{PMID Auto
|PMID=22355039
|Title=Endoplasmic reticulum aminopeptidase 1 (ERAP1) exhibits functionally significant interaction with HLA-B27 and relates to subtype specificity in ankylosing spondylitis.
}}

{{PMID Auto
|PMID=22896742
|Title=Investigating the genetic association between ERAP1 and spondyloarthritis
}}

{{GET Evidence
|gene=ERAP1
|aa_change=Lys528Arg
|aa_change_short=K528R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs30187
|overall_frequency_n=6743
|overall_frequency_d=10758
|overall_frequency=0.626789
|n_genomes=43
|n_genomes_annotated=0
|n_haplomes=63
|n_articles=0
|n_articles_annotated=0
|pph2_score=0.235
|nblosum100=-3
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=23093722
|Title=Exploring ankylosing spondylitis-associated ERAP1, IL23R and IL12B gene polymorphisms in subphenotypes of psoriatic arthritis
}}

{{PMID Auto
|PMID=23800305
|Title=Functional variants of ERAP1 gene are associated with HLA-B27 positive spondyloarthritis
}}

{{PMID Auto
|PMID=22931917
|Title=Genetic association with ERAP1 in psoriasis is confined to disease onset after puberty and not dependent on HLA-C*06.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}