rs30187

plus

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.

Reference

GRCh38 38.1/141

Chromosome

5

Position

96788627

Gene

ERAP1

is a	snp
is	mentioned by
dbSNP	rs30187
dbSNP (classic)	rs30187
ClinGen	rs30187
ebi	rs30187
HLI	rs30187
Exac	rs30187
Gnomad	rs30187
Varsome	rs30187
LitVar	rs30187
Map	rs30187
PheGenI	rs30187
Biobank	rs30187
1000 genomes	rs30187
hgdp	rs30187
ensembl	rs30187
geneview	rs30187
scholar	rs30187
google	rs30187
pharmgkb	rs30187
gwascentral	rs30187
openSNP	rs30187
23andMe	rs30187
SNPshot	rs30187
SNPdbe	rs30187
MSV3d	rs30187
GWAS Ctlg	rs30187

GMAF

0.4114

Max Magnitude

2

?

(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 21743469 ]
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 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.