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rs27044

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal risk
(C;G) 1.4x higher risk for spondylitis
(G;G) 1.4x higher risk for spondylitis
ReferenceGRCh38 38.1/141
Chromosome5
Position96783148
GeneERAP1, LOC102724748
is asnp
is mentioned by
dbSNPrs27044
ebirs27044
HLIrs27044
Exacrs27044
Varsomers27044
Maprs27044
PheGenIrs27044
hapmaprs27044
1000 genomesrs27044
hgdprs27044
ensemblrs27044
gopubmedrs27044
geneviewrs27044
scholarrs27044
googlers27044
pharmgkbrs27044
gwascentralrs27044
openSNPrs27044
23andMers27044
23andMe allrs27044
SNP Nexus

SNPshotrs27044
SNPdbers27044
MSV3drs27044
GWAS Ctlgrs27044
GMAF0.3517
Max Magnitude
? (C;C) (C;G) (G;G) 28
rs27044 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. The odds ratio is 1.40 (p=1.0x10e-6).[PMID 17952073, PMID 18037607]

A study of 872 Korean patients with ankylosing spondylitis also found a significant association with this SNP.[PMID 19414429]

Neighborrs17482078
Distance14


[PMID 19404951] Association of a specific ERAP1/ARTS1 haplotype with disease susceptibility in ankylosing spondylitis


[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


[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 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 20595269] Serum cytokine receptors in ankylosing spondylitis: relationship to inflammatory markers and endoplasmic reticulum aminopeptidase polymorphisms.


[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-Q730E
aa_change Gln730Glu
aa_change_short Q730E
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.7058
summary



[PMID 23800305] Functional variants of ERAP1 gene are associated with HLA-B27 positive spondyloarthritis


[PMID 21833528] Susceptibility to ankylosing spondylitis: evidence for the role of ERAP1, TGFb1 and TLR9 gene polymorphisms.