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Article

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

Investigative ophthalmology & visual science - 1 Nov 2021

Gelfman Sahar, Monnet Dominique, Ligocki Ann J, Tabary Thierry, Moscati Arden, Bai Xiaodong, Freudenberg Jan, Cooper Blerta, Kosmicki Jack A, Wolf Sarah, Ferreira Manuel A R, Overton John, Weyne Jonathan, Stahl Eli A, Baras Aris, Romano Carmelo, Cohen Jacques H M, Coppola Giovanni, Brézin Antoine

Abstract excerpt

Purpose: Birdshot chorioretinopathy (BSCR) is strongly associated with HLA-A29. This study was designed to elucidate the genetic modifiers of BSCR in HLA-A29 carriers. Methods: We sequenced the largest BSCR cohort to date, including 286 cases and 108 HLA-A29-positive controls to determine genome-wide common and rare variant associations. We further typed the HLA alleles of cases and 45,386 HLA-A29 controls of...

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Identifiers

PMID: 34727153
DOI: 10.1167/iovs.62.14.3
PMCID: PMC8572510

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

ERAP1, ERAP2, and Two Copies of HLA-Aw19 Alleles Increase the Risk for Birdshot Chorioretinopathy in HLA-A29 Carriers.PMID 34727153Read ↗

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

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

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

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

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

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A new HLA extended haplotype containing the A*2910 allele in birdshot retinochoroidopathy: susceptibility narrowed to the HLA molecule itself.Semantic proximity Read ↗

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