Clinical features of sarcoidosis in relation to HLA distribution and HLA-DRB3 genotyping by PCR-RFLP.

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.

• 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)

Chemical References

• HLA-DR Antigens
• HLA-DRB1 Chains
• HLA-DRB3 Chains

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)