Susceptibility to birdshot chorioretinopathy is restricted to the HLA‐A29.2 subtype

Tabary, Thierry; LeHoang, Phuc; Bétuel, H; Benhamou, A.; Semiglia, Renato; Edelson, C.; Cohen, Jacques H. M.

doi:10.1111/j.1399-0039.1990.tb01826.x

Cited by 29 publications

(11 citation statements)

References 12 publications

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“…For many years it has been known that there are genetic predispositions to disease that are correlated with certain HLA alleles (2-7). The human MHC class I specificity HLA-A29 was observed in nearly all patients (95.8%) with birdshot chorioretinopathy (BSCR) compared with 7% in healthy controls (8)(9)(10)(11)(12)(13).…”

mentioning

confidence: 99%

Spontaneous retinopathy in HLA-A29 transgenic mice

Szpak

Vieville

Tabary

et al. 2001

Proc. Natl. Acad. Sci. U.S.A.

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Humans who have inherited the class I major histocompatibility allele HLA-A29 have a markedly increased relative risk of developing the eye disease termed birdshot chorioretinopathy. This disease affecting adults is characterized by symmetrically scattered, small, cream-colored spots in the fundus associated with retinal vasculopathy and inflammatory signs causing damage to the ocular structures, leading regularly to visual loss. To investigate the role of HLA-A29 in this disease, we introduced the HLA-A29 gene into mice. Aging HLA-A29 transgenic mice spontaneously developed retinopathy, showing a striking resemblance to the HLA-A29-associated chorioretinopathy. These results strongly suggest that HLA-A29 is involved in the pathogenesis of this disease. Elucidation of the role of HLA-A29 should be assisted by this transgenic model.

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confidence: 99%

Spontaneous retinopathy in HLA-A29 transgenic mice

Szpak

Vieville

Tabary

et al. 2001

Proc. Natl. Acad. Sci. U.S.A.

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“…This is consistent with the observation that the vast majority of autoimmune diseases have HLA class II associations. Key exceptions are the association of HLA B27 with the spondyloarthropathies (1, 2) and of HLA A29 with birdshot retinopathy (3).…”

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confidence: 99%

Fully Functional HLA B27-Restricted CD4+ as well as CD8+ T Cell Responses in TCR Transgenic Mice

Roddis

Carter

Sun

et al. 2004

The Journal of Immunology

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The strong association of HLA B27 with spondyloarthropathies contrasts strikingly with most autoimmune diseases, which are HLA class II associated and thought to be mediated by CD4+ T lymphocytes. By introducing a human-derived HLA B27-restricted TCR into HLA B27 transgenic mice, we have obtained a functional TCR transgenic model, GRb, dependent on HLA B27 for response. Surprisingly, HLA B27 supported CD4+ as well as CD8+ T cell responses in vivo and in vitro. Further, HLA B27-restriced CD4+ T cells were capable of differentiation into a range of Th1 and Th2 T cell subsets with normal patterns of cytokine expression. The transgenic T cells were also able to enhance clearance of recombinant vaccinia virus containing influenza nucleoprotein in vivo. This is the first description of a human HLA class I-restricted TCR transgenic line. The existence of CD4+ MHC class I-restricted T cells has significant implications for immune regulation in autoimmunity and, in particular, in HLA B27-associated arthritis. We believe that this model provides a novel system for the study of unusual T cell behavior in vivo.

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“…The high prevalence of HLA-A29 in people with birdshot chorioretinopathy (95.7%) in relation to the general population (7%) suggests a role for the HLA-A29 molecule in disease progression (Nussenblatt, Mittal et al, 1982;Baarsma, Kijlstra et al, 1986;Priem, Kijlstra et al, 1988;Baarsma, Priem et al, 1990;Tabary, Lehoang et al, 1990;de Waal, Lardy et al, 1992). However, HLA-A29 is a common allele, so if it were the only factor required for disease activation, there would be a higher prevalence of birdshot chorioretinopathy.…”

Section: Strong Association Of Human Leukocyte Antigen (Hla)-a29mentioning

confidence: 83%

“…The relative risk for developing birdshot chorioretinopathy in HLA-A29 has been reported to be as high as 50-224 (Baarsma, Kijlstra et al, 1986;Priem, Kijlstra et al, 1988;Tabary, Lehoang et al, 1990). In certain Asian populations, the lack or low incidence of birdshot chorioretinopathy may be attributable to the low incidence of the HLA-A29 gene.…”

Section: Strong Association Of Human Leukocyte Antigen (Hla)-a29mentioning

confidence: 92%

“…The suggestion has been made that the HLA-A29.1 serotype is protective against developing birdshot chorioretinopathy (Tabary, Lehoang et al, 1990;LeHoang, Ozdemir et al, 1992). This argument is based in part on the lack or very low incidence of birdshot chorioretinopathy in Asians, a population where the HLA-A29.1 serotype predominates.…”

Section: Human Leukocyte Antigen A*2901 and A*2902 Subtypesmentioning

confidence: 98%

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Genetics of Birdshot Chorioretinopathy

Wee

Papaliodis

2008

Seminars in Ophthalmology

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Birdshot chorioretinopathy is a bilateral, posterior uveitis that affects primarily Caucasians. Although the genetic basis of disease is not completely understood, certain factors are known, such as the strong association with human leukocyte antigen (HLA)-A29. However, given the prevalence of the HLA-A29 allele in the general population, if it were the only factor required for disease, many more people would have birdshot chorioretinopathy. It has been suggested that some environmental factor may trigger this disease entity in those who are genetically predisposed based on inheritance of the HLA-A29 allele.

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Susceptibility to birdshot chorioretinopathy is restricted to the HLA‐A29.2 subtype

Cited by 29 publications

References 12 publications

Spontaneous retinopathy in HLA-A29 transgenic mice

Spontaneous retinopathy in HLA-A29 transgenic mice

Fully Functional HLA B27-Restricted CD4+ as well as CD8+ T Cell Responses in TCR Transgenic Mice

Genetics of Birdshot Chorioretinopathy

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