Related Experiment Videos
Association of HLA-DR4 with ocular cicatricial pemphigoid
M M Zaltas1, R Ahmed, C S Foster
1Hilles Immunology Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston.
Insights
This study found specific human leukocyte antigen (HLA) types and complement proteins are more common in ocular cicatricial pemphigoid (OCP) patients. These findings may help identify genes contributing to this autoimmune disease.
Area of Science:
- Immunogenetics
- Ophthalmology
- Autoimmune Diseases
Background:
- Ocular cicatricial pemphigoid (OCP) is a chronic autoimmune blistering disease affecting the eyes.
- Understanding the genetic factors associated with OCP is crucial for elucidating its pathogenesis.
Purpose of the Study:
- To investigate the association between specific human leukocyte antigen (HLA) and complement protein types and the risk of developing ocular cicatricial pemphigoid (OCP).
Main Methods:
- Human leukocyte antigen (HLA) typing for A, B, C, DR, and DQ loci was performed on 70 OCP patients and 1849 controls.
- Complement protein typing (C2, factor B, C4A, C4B) was conducted on 63 OCP patients and the same control group.
Main Results:
- Significantly higher incidences of HLA antigens DR4, DR5, DQw3, A2, B8, B35, and B49 were observed in OCP patients compared to controls.
- Specific complement types (SC01, SC30, SC32, SC41, SC42) were also significantly increased in OCP patients.
- No significant associations were found with ethnic background, disease severity, or specific conjunctival biopsy findings.
Conclusions:
- Specific HLA and complement types are significantly associated with ocular cicatricial pemphigoid (OCP).
- These genetic associations may contribute to the susceptibility and pathogenesis of OCP.
- Further research could focus on identifying specific susceptibility genes for this autoimmune condition.
Abstract:
HLA typing for A, B, and C locus antigens was performed on 70 patients with ocular cicatricial pemphigoid (OCP) and on 1849 controls. Additionally, typing for DR and DQ antigens and for the complement proteins (C2, factor B, C4A, and C4B) was performed on 63 patients and on the same control population. A significantly higher incidence of the following antigens was found in the OCP patients when compared to the control population: DR4 (43% in patients compared to 18% in controls, p = 0.0001); DR5 (41% compared to 16%, p = 0.0001); DQw3 (57% compared to 31%, p = 0.0010); A2 (60% compared to 28%, p = 0.0001); B8 (24% compared to 13%, p = 0.0086); B35 (19% compared to 9%, p = 0.0097); and B49 (7% compared to 2%, p = 0.0052). The complement types SC01, SC30, SC32, SC41, and SC42 were also significantly increased in patients compared to controls. No significant differences were found based on ethnic background, involvement of multiple mucous membranes, history of glaucoma, or deposition of specific immunoreactants in conjunctival biopsy samples. These findings may provide further insights into the pathogenesis of OCP and may help to localize a susceptibility gene for this autoimmune disease.