The Impact of ERAP1 and ERAP2 Haplotype Combinations on Susceptibility and Severity of Birdshot Chorioretinitis.

ABSTRACT:

Purpose

To investigate how ERAP1 and ERAP2 genotype combinations influence susceptibility and severity in birdshot chorioretinitis (BSCR), an HLA-A29-associated disease with variable visual outcomes.

Methods

We analyzed ERAP1 and ERAP2 haplotypes in 406 HLA-A29-positive BSCR patients and 106 HLA-A29-positive controls. ERAP1 activity was inferred from published enzymatic efficiency data and ERAP2 activity from protein expression data. Predicted peptide trimming activity was assigned to each patient. Correlation and multivariable regression analyses were performed to evaluate associations between ERAP1 and ERAP2 genotypes and disease severity, assessed by disease onset (age at first symptoms) and visual outcomes: best-corrected visual acuity, mean deviation, pattern standard d

SUBMITTER: Loeliger J 

PROVIDER: S-EPMC12849819 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature