rs27044
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | normal risk | |
| (C;G) | 1.4x higher risk for spondylitis | |
| (G;G) | 1.4x higher risk for spondylitis |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 96783148 |
| Gene | ERAP1, LOC102724748 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs27044 |
| dbSNP (classic) | rs27044 |
| ClinGen | rs27044 |
| ebi | rs27044 |
| HLI | rs27044 |
| Exac | rs27044 |
| Gnomad | rs27044 |
| Varsome | rs27044 |
| LitVar | rs27044 |
| Map | rs27044 |
| PheGenI | rs27044 |
| Biobank | rs27044 |
| 1000 genomes | rs27044 |
| hgdp | rs27044 |
| ensembl | rs27044 |
| geneview | rs27044 |
| scholar | rs27044 |
| rs27044 | |
| pharmgkb | rs27044 |
| gwascentral | rs27044 |
| openSNP | rs27044 |
| 23andMe | rs27044 |
| SNPshot | rs27044 |
| SNPdbe | rs27044 |
| MSV3d | rs27044 |
| GWAS Ctlg | rs27044 |
| GMAF | 0.3517 |
| Max Magnitude | 0 |
| ? | (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]
[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 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 19433412] Association of an ERAP1 ERAP2 haplotype with familial ankylosing spondylitis.
[PMID 19692350] 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
[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.
[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 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 30412714] Association analysis of ERAP1 gene single nucleotide polymorphism in susceptibility to ankylosing spondylitis in Iranian population.
[PMID 30518188] Evaluation of ERAP1 Gene Single Nucleotide Polymorphism in Impressing the Inflammatory Cytokine Profile of Ankylosing Spondylitis Patients.
[PMID 30794838] ERAP1-ERAP2 haplotypes are associated with ankylosing spondylitis in Polish patients.
[PMID 31790864] From structure to function for the characterization of ERAP1 active site in Behçet syndrome. A novel polymorphism associated with known gene variations.
