Human leukocyte antigen A29 subtypes associated with birdshot retinochoroidopathy - 25/08/11
, Raja Rajalingam, PhD b, Min S. Park, DVM b, Elaine F. Reed, PhD b, David W. Gjertson, PhD b, Peter J. Kappel, MD a, Robert F. See, MD c, Narsing A. Rao, MD c, Gary N. Holland, MD aRésumé |
Purpose |
To determine whether birdshot retinochoroidopathy is associated with subtypes of the human leukocyte antigen (HLA)-A29 other than HLA-A*2902.
Design |
Experimental study.
Methods |
High-resolution DNA typing of HLA-A29 subtypes was performed on blood from 20 subjects with birdshot retinochoroidopathy using polymerase chain reaction–based typing methods. Results were compared with published controls.
Results |
Four of 20 subjects (20%) had the HLA-A*2901 allele; two were homozygous for HLA-A*29, and both had the HLA-A*2901 and HLA-A*2902 alleles. Among 18 subjects with only one HLA-A*29 allele, the HLA-A*2902 allele was found in 16 (89%) and the HLA-A*2901 allele was found in two (11%). No subject was found to have HLA-A*2903, HLA-A*2904, HLA-A*2905, or HLA-A*2906.
Conclusions |
Both HLA-A*2901 and HLA-A*2902 are associated with birdshot retinochoroidopathy. Our data do not support the previous suggestion that the HLA-A29.1 serotype may be protective against development of birdshot retinochoroidopathy. Additional studies will be required to determine whether the other, less common subtypes are associated with the disease. HLA-A29 subtype testing is not required for the clinical evaluation of HLA-A29–positive patients with birdshot retinochoroidopathy.
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| Supported in part by Research to Prevent Blindness, Inc, New York, New York (G.N.H.); the MacDonald Family Foundation, Los Angeles California (R.D.L.); the Skirball Foundation, Los Angeles, California (G.N.H.); and the David May II Endowed Professorship (G.N.H.). Dr Holland is a recipient of a Research to Prevent Blindness Physician-Scientist Award. |
Vol 138 - N° 4
P. 631-634 - octobre 2004 Retour au numéro
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