rs27529
This is a synonymous variant in the ERAP1 gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
ankylosing spondylitis
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶A Genome-Wide Assessment of Variability in Human Serum MetabolismAssociationN=891Mun-Gwan Hong et al.(2013)· Human Mutation
A genome-wide association study (GWAS) of serum metabolic quantitative trait loci (mQTLs) in 891 Swedish men identified seven replicating loci (PYROXD2, FADS1, PON1, CYP4F2, UGT1A8, ACADL, and LIPC) with variants showing significant associations with metabolite levels (P = 10^-13 to 10^-91). rs4345897:A>G in PYROXD2 showed the strongest association with caprolactam (P = 2.40 × 10^-91), while rs174549:A>G in FADS1 associated with glycerolphosphocholine (P = 1.91 × 10^-30). Pathway analysis implicated genes with acyl-CoA dehydrogenase activity (ACADS, ACADM, ACAD8, ACAD10, ACAD11, ACOXL) and mQTL SNPs were enriched across GWAS catalog regions.
▶A polymorphism in ERAP1 is associated with susceptibility to ankylosing spondylitis in a Turkish populationAssociationN=300Muhammet Cinar et al.(2013)· Rheumatology International
A case-control study of 150 Turkish ankylosing spondylitis (AS) patients and 150 healthy controls investigating 10 ERAP1 SNPs. The rs26653 SNP was significantly associated with AS susceptibility (OR 1.609, 95% CI 1.163-2.226; p = 0.004) with a population-attributable risk of 23.4%. The contribution of ERAP1 rs26653 to AS pathogenesis appeared independent from HLA-B27.
▶The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populationsAssociationN=3,608Matthew P. Johnson et al.(2009)· Human Genetics
A genetic association study identified the ERAP2 gene as a novel preeclampsia susceptibility locus on chromosome 5q using SNP genotyping in Australian/New Zealand families (n=480) and an independent Norwegian case-control cohort (1,139 cases, 2,269 controls). ERAP2 variants rs2549782 (Australian cohort, p uncorr=0.004, p corr=0.018) and rs17408150 (Norwegian cohort, p uncorr=0.009, p corr=0.039) showed significant experiment-wide corrected associations with preeclampsia. ERAP1 variants also showed borderline associations (rs3734016, p uncorr=0.009 in Australia; rs34750, p uncorr=0.011 in Norway).
▶Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish populationAssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases
PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.
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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