From SNPedia
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
normal risk
|
| (C;T)
|
|
1.4x higher risk for spondylitis
|
| (T;T)
|
|
1.4x higher risk for spondylitis
|
| ? | (C;C) (C;T) (T;T) | 28 |
|---|
 |
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.
