rs27434
This is a synonymous variant in the ERAP1 gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
ankylosing spondylitis
systolic blood pressure
diastolic blood pressure
hypertension
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶Is there a higher genetic load of susceptibility loci in familial ankylosing spondylitis?AssociationN=502Joshi R. et al.(2012)· Arthritis Care & Research
This association study compared genetic susceptibility loci frequencies between 312 familial and 190 sporadic ankylosing spondylitis (AS) cases. HLA-B27 was significantly more prevalent in familial cases (OR: 5.41, p=8.4×10⁻⁸), while non-MHC susceptibility variants in IL23R, IL1R2, ANTXR2, ERAP1, and intergenic regions on chromosomes 2p15 and 21q22 showed no significant differences between familial and sporadic cases.
▶The association between seven ERAP1 polymorphisms and ankylosing spondylitis susceptibility: a meta-analysis involving 8,530 cases and 12,449 controlsMeta-analysisN=20,979Rui Chen et al.(2012)· Rheumatology International
This meta-analysis of 9 case-control studies (8,530 AS patients and 12,449 controls) examined the association between ERAP1 polymorphisms and ankylosing spondylitis susceptibility. Six ERAP1 variants showed significant associations: rs27044 (OR 1.57, P<0.001), rs17482078 (OR 1.271, P<0.001), rs10050860 (OR 0.772, P=0.006), rs30187 (OR 1.348, P<0.001), rs2287987 (OR 0.746, P<0.001), and rs27037 (OR 1.257, P=0.001), while rs27434 showed no significant association (P=0.23). The findings support ERAP1's role in AS pathogenesis through peptide trimming for MHC class I presentation and cytokine receptor shedding.
▶SNPs in CAST are associated with Parkinson disease: A confirmation studyAssociationN=1,943Andrew S. Allen et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This confirmation study analyzes GWAS data from the CIDR familial Parkinson disease cohort (1048 cases, 895 controls) to validate previously reported associations between calpastatin (CAST) gene polymorphisms and Parkinson disease. The authors found a significant association between rs1559085 in CAST and PD (p=0.0167 after multiple comparison correction) with an allelic odds ratio of 1.43, confirming the association identified in the NINDS PD study and supporting CAST as a gene involved in PD etiology.
▶Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese populationAssociationN=1,472Stuart I. Davidson et al.(2009)· Arthritis & Rheumatism
This case-control study examined polymorphisms in ERAP1 and IL23R genes in a Han Chinese population with ankylosing spondylitis (527 cases, 945 controls). Multiple SNPs in ERAP1 were significantly associated with AS (rs27980 P=0.0048, rs7711564 P=0.0081), confirming the gene's role across different ethnic populations. However, no association was found between IL23R and AS, with the key nonsynonymous SNP rs11209026 not polymorphic in Chinese individuals, suggesting different disease pathogenesis mechanisms between Chinese and Caucasian populations.
About ERAP1
The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
View all ERAP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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