What question did this study set out to answer?

To investigate how haplotype combinations of ERAP1 and ERAP2 affect the susceptibility and severity of birdshot chorioretinitis (BSCR).

January 25, 2026Open Access

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

JLJordan LoeligerUniversity Hospital of Basel SGSahar Gelfman ESEli StahlBroad Institute

Key Points

To investigate how haplotype combinations of ERAP1 and ERAP2 affect the susceptibility and severity of birdshot chorioretinitis (BSCR).
Investigated ERAP1 and ERAP2 activity levels in BSCR patients.
Analyzed haplotype combinations and their association with BSCR susceptibility and severity.
Evaluated peptide processing and HLA-A29-mediated presentation.
ERAP1 activity is reduced in BSCR patients.
ERAP2 activity is elevated in BSCR patients.
ERAP1 and ERAP2 mainly influence susceptibility but have limited effect on disease severity.

Abstract

Our findings support a model in which ERAP1 and ERAP2 contribute to BSCR susceptibility, but have limited influence on disease severity. The observed pattern of reduced ERAP1 and elevated ERAP2 activity in BSCR patients may affect peptide processing and HLA-A29-mediated presentation.

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

Key Points

Abstract

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