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

Investigative ophthalmology & visual science - 5 Jan 2026

Loeliger Jordan, Gelfman Sahar, Stahl Eli A, Moscati Arden, Bai Xiaodong, Monnet Dominique, Imikirene Linda, Kecili Souhila, Tabary Thierry, Cohen Jacques, Brézin Antoine P

Abstract excerpt

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...

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Source

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Identifiers

PMID: 41575441
DOI: 10.1167/iovs.67.1.51
PMCID: PMC12849819

Genes

ERAP1
ERAP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Impact of ERAP1 and ERAP2 Haplotype Combinations on Susceptibility and Severity of Birdshot Chorioretinitis.PMID 41575441Read ↗

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.Semantic proximity Read ↗

ERAP1, ERAP2, and Two Copies of HLA-Aw19 Alleles Increase the Risk for Birdshot Chorioretinopathy in HLA-A29 Carriers.Semantic proximity Read ↗

ERAP1, ERAP2, and two copies of HLA-Aw19 alleles increase the risk for Birdshot Chorioretinopathy in HLA-A29 carriersSemantic proximity Read ↗

Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.Semantic proximity Read ↗

Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphism Relevant to Inflammatory Disease Shapes the Peptidome of the Birdshot Chorioretinopathy-Associated HLA-A*29:02 Antigen.Semantic proximity Read ↗

Susceptibility to birdshot chorioretinopathy is restricted to the HLA-A29.2 subtype.Semantic proximity Read ↗

Allele-specific Alterations in the Peptidome Underlie the Joint Association of HLA-A*29:02 and Endoplasmic Reticulum Aminopeptidase 2 (ERAP2) with Birdshot Chorioretinopathy.Semantic proximity Read ↗

High Resolution DNA Typing of Human Leukocyte Antigen A29 in Familial Birdshot Chorioretinopathy.Semantic proximity Read ↗

HLA-A29 and Birdshot Uveitis: Further Down the Rabbit HoleSemantic proximity Read ↗

The Impact of HLA-A29 Homozygosity and of the Second HLA-A Allele on Susceptibility and Severity of Birdshot Chorioretinitis.Semantic proximity Read ↗

Human leukocyte antigen A29 subtypes associated with birdshot retinochoroidopathySemantic proximity Read ↗

Single-cell profiling identifies a CD8bright CD244bright Natural Killer cell subset that reflects disease activity in HLA-A29-positive birdshot chorioretinopathy.Semantic proximity Read ↗

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