The rs75862629 minor allele in the endoplasmic reticulum aminopeptidases intergenic region affects human leucocyte antigen B27 expression and protects from ankylosing spondylitis in Sardinia
01 Pubblicazione su rivista
Paladini Fabiana, Fiorillo Maria Teresa, Tedeschi Valentina, D'Otolo Viviana, Piga Matteo, Cauli Alberto, Mathieu Alessandro, Sorrentino Rosa
ISSN: 1462-0324
HLA-B27 and the endoplasmic reticulum aminopeptidase 1 (ERAP1) and ERAP2 genes are predisposing factors for AS. A single nucleotide polymorphism (SNP) in the ERAP2 promoter (rs75862629) coordinates the transcription of both ERAP genes. We investigated whether this SNP associates with AS and whether it affects the expression of the two major HLA-B27 alleles present in Sardinia, the AS-associated B*2705 and the non-AS-associated B*2709.