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HLA-A29 and birdshot chorioretinopathy.

Antoine P Brézin¹, Dominique Monnet, Jacques H M Cohen

¹Université Paris Descartes, Faculté de Médecine, Centre Cochin Ambulatoire d'Ophtalmologie, AP-HP, Paris, France. antoine.brezin@cch.aphp.fr

Ocular Immunology and Inflammation

|November 24, 2011

Summary

Birdshot chorioretinopathy is strongly linked to HLA-A29, particularly HLA-A*29:02. Research suggests a non-HLA factor may explain disease prevalence in European descent patients.

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Area of Science:

Ophthalmology
Immunogenetics

Background:

Birdshot chorioretinopathy predominantly affects individuals of European descent.
The disease shows a very high association with the HLA-A29 gene, with over 96% of patients being carriers.

Purpose of the Study:

To explore the genetic and potential non-genetic factors contributing to the prevalence of Birdshot chorioretinopathy in specific ethnic groups.
To investigate the role of HLA-A29 subtypes in disease pathogenesis.

Main Methods:

Analysis of HLA-A29 subtype distribution (HLA-A*29:01 and HLA-A*29:02) in different populations.
Review of existing literature regarding ethnic prevalence and genetic associations.
Examination of data from HLA-A*29:02 transgenic mouse models exhibiting posterior uveitis.

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Main Results:

While HLA-A29 is a strong risk factor, the differential distribution of its subtypes (HLA-A*29:02 in whites, HLA-A*29:01 in Asians) does not fully explain the disease's ethnic selectivity.
Evidence suggests a potential non-HLA linked factor that may be protective in Asian and African populations or trigger autoimmunity in white populations.
HLA-A*29:02 transgenic mice spontaneously develop posterior uveitis, supporting the pathogenic role of the HLA-A29 molecule.

Conclusions:

The high prevalence of Birdshot chorioretinopathy in Europeans is strongly associated with HLA-A29, specifically HLA-A*29:02.
A non-HLA linked factor likely plays a significant role in the ethnic disparities observed in Birdshot chorioretinopathy, warranting further investigation.