Abstract | BACKGROUND: Susceptibility to the development of sarcoidosis has been demonstrated to be associated with HLA-DR5, -DR6, and -DR8 encoded by the DRB1 gene. However, involvement of the DRB3 (HLA-DR52) gene in the development of sarcoidosis remains unclear. METHODS:
HLA-DRB3 genotyping was performed using the PCR-RFLP method and the clinical features of the patients with and without the DR3, 5, 6, 8 group antigens were compared. RESULTS:
HLA-DRB3 genotyping indicated an association between DRB3*0101 and sarcoidosis. The DR8 haplotype lacking the DRB3 gene has been found to be increased significantly in sarcoidosis, suggesting that the HLA-DRB3 gene is not a primary determinant of predisposition to sarcoidosis. The association of DRB3*0101 with sarcoidosis is attributable to linkage disequilibrium with DR5- and DR6-associated alleles. There were significant decreases in the DR3, 5, 6, 8 group (DR5, DR6, or DR8) antigen frequencies in patients with retinal perivasculitis, high intraocular pressure (or secondary glaucoma), and optic nerve and/or macular lesion. Correlations were observed among the DR3, 5, 6, 8 group antigens, early onset sarcoidosis and disease with fewer intraocular lesions. CONCLUSION: This established a molecular basis for some of the clinical heterogeneity observed in sarcoidosis.
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Authors | M Ishihara, T Ishida, N Mizuki, H Inoko, H Ando, S Ohno |
Journal | The British journal of ophthalmology
(Br J Ophthalmol)
Vol. 79
Issue 4
Pg. 322-5
(Apr 1995)
ISSN: 0007-1161 [Print] England |
PMID | 7742275
(Publication Type: Journal Article)
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Chemical References |
- HLA-DR Antigens
- HLA-DRB1 Chains
- HLA-DRB3 Chains
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Topics |
- Adolescent
- Adult
- Aged
- Base Sequence
- Eye Diseases
(genetics, pathology)
- Female
- Genotype
- Glaucoma
(complications)
- HLA-DR Antigens
(genetics)
- HLA-DRB1 Chains
- HLA-DRB3 Chains
- Humans
- Intraocular Pressure
- Male
- Middle Aged
- Molecular Sequence Data
- Optic Nerve
(pathology)
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length
- Sarcoidosis
(genetics, pathology)
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