rs2910686

This case-control study investigates ERAP1 and ERAP2 gene polymorphisms and their association with psoriatic arthritis (PsA) in a Romanian population of 98 PsA patients and 247 controls. The results show that ERAP2 rs2248374 is associated with increased PsA risk (p=0.02, OR 1.59) especially in HLA-B27 negative patients, while ERAP1 rs30187 is strongly associated with HLA-B27 positive PsA (p=0.005, OR 2.73). This is reported as the first study investigating ERAP2 polymorphisms in relation to PsA susceptibility.

Genetic dissection of acute anterior uveitis (AAU) using high-density Immunochip genotyping in 1,711 AAU cases and 10,000 controls identifies HLA-B27 tag SNP rs116488202 (OR=16.8, P<1×10⁻³⁰⁰) as the strongest association, and three genome-wide significant non-MHC loci (IL23R, chromosome 2p15 intergenic region, and ERAP1) shared with ankylosing spondylitis. Five additional suggestive loci including IL10-IL19, IL18R1-IL1R1, IL6R, KIF21B, and EYS are identified, with shared genetic pathways with inflammatory bowel disease suggesting common etiologic mechanisms.

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.