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rs30187

From SNPedia

Orientationplus
Stabilizedplus
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
Chromosome5
Position96788627
GeneERAP1
is asnp
is mentioned by
dbSNPrs30187
ebirs30187
HLIrs30187
Exacrs30187
Varsomers30187
Maprs30187
PheGenIrs30187
hapmaprs30187
1000 genomesrs30187
hgdprs30187
ensemblrs30187
gopubmedrs30187
geneviewrs30187
scholarrs30187
googlers30187
pharmgkbrs30187
gwascentralrs30187
openSNPrs30187
23andMers30187
23andMe allrs30187
SNP Nexus

SNPshotrs30187
SNPdbers30187
MSV3drs30187
GWAS Ctlgrs30187
GMAF0.4114
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]
Trait
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


GET Evidence
ERAP1-K528R
aa_change Lys528Arg
aa_change_short K528R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.626789
summary



[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