rs26653
This is a variant in the ERAP1 gene that changes a arginine to an proline.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
systolic blood pressure
hypertension
▶ClinVar annotation
▶Research that mentions this SNP (4)
▶Single Nucleotide Polymorphisms of the ERAP1 Gene and Risk of NSCLC: A Comparison of Genetically Distant Populations, Chinese and CaucasianAssociationN=2,028Yufeng Yao et al.(2016)· Archivum Immunologiae et Therapiae Experimentalis
This case-control study examined associations between four ERAP1 SNPs (rs26653 G/C [R127P], rs26618 T/C [I276M], rs30187 C/T [K528R], rs27044 C/G [Q730E]) and non-small cell lung cancer (NSCLC) risk in Chinese and Polish populations. All four SNPs showed significant associations with NSCLC in Chinese patients (n=420 cases, 385 controls) but not in Polish patients (n=317 cases, 506 controls), with the differences explained by substantially different SNP allele frequencies between populations.
▶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 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.
▶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).
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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