Skip to main content
NCBI home page
The British Journal of Ophthalmology logoLink to The British Journal of Ophthalmology
. 1995 Apr;79(4):322–325. doi: 10.1136/bjo.79.4.322

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

M Ishihara 1, T Ishida 1, N Mizuki 1, H Inoko 1, H Ando 1, S Ohno 1
PMCID: PMC505093  PMID: 7742275

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.

Full text

PDF
322

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bodmer J. G., Marsh S. G., Albert E. D., Bodmer W. F., Dupont B., Erlich H. A., Mach B., Mayr W. R., Parham P., Sasazuki T. Nomenclature for factors of the HLA system, 1991. WHO Nomenclature Committee for factors of the HLA system. Tissue Antigens. 1992 Apr;39(4):161–173. doi: 10.1111/j.1399-0039.1992.tb01932.x. [DOI] [PubMed] [Google Scholar]
  2. Gardner J., Kennedy H. G., Hamblin A., Jones E. HLA associations in sarcoidosis: a study of two ethnic groups. Thorax. 1984 Jan;39(1):19–22. doi: 10.1136/thx.39.1.19. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Hedfors E., Lindström F. HLA-B8/DR3 in sarcoidosis. Correlation to acute onset disease with arthritis. Tissue Antigens. 1983 Sep;22(3):200–203. doi: 10.1111/j.1399-0039.1983.tb01192.x. [DOI] [PubMed] [Google Scholar]
  4. Ina Y., Takada K., Yamamoto M., Morishita M., Senda Y., Torii Y. HLA and sarcoidosis in the Japanese. Chest. 1989 Jun;95(6):1257–1261. doi: 10.1378/chest.95.6.1257. [DOI] [PubMed] [Google Scholar]
  5. Inoko H., Ando A., Ito M., Tsuji K. Southern hybridization analysis of DNA polymorphism in the HLA-D region. Hum Immunol. 1986 Jul;16(3):304–313. doi: 10.1016/0198-8859(86)90058-3. [DOI] [PubMed] [Google Scholar]
  6. Ishihara M., Ohno S., Ishida T., Ando H., Naruse T., Nose Y., Inoko H. Molecular genetic studies of HLA class II alleles in sarcoidosis. Tissue Antigens. 1994 Apr;43(4):238–241. doi: 10.1111/j.1399-0039.1994.tb02331.x. [DOI] [PubMed] [Google Scholar]
  7. Ishihara M., Ohno S., Ishida T., Kagiya M., Ando H., Inoko H. [Analysis of susceptibility genes in sarcoidosis]. Nippon Ganka Gakkai Zasshi. 1994 Jan;98(1):80–85. [PubMed] [Google Scholar]
  8. Kunikane H., Abe S., Tsuneta Y., Nakayama T., Tajima Y., Misonou J., Wakisaka A., Aizawa M., Kawakami Y. Role of HLA-DR antigens in Japanese patients with sarcoidosis. Am Rev Respir Dis. 1987 Mar;135(3):688–691. doi: 10.1164/arrd.1987.135.3.688. [DOI] [PubMed] [Google Scholar]
  9. Nowack D., Goebel K. M. Genetic aspects of sarcoidosis. Class II histocompatibility antigens and a family study. Arch Intern Med. 1987 Mar;147(3):481–483. doi: 10.1001/archinte.147.3.481. [DOI] [PubMed] [Google Scholar]
  10. Odum N., Milman N., Jakobsen B. K., Georgsen J., Svejgaard A. HLA class II (DR, DQ, DP) in patients with sarcoidosis: evidence of an increased frequency of DRw6. Exp Clin Immunogenet. 1991;8(4):227–232. [PubMed] [Google Scholar]
  11. Sasazuki T., Nishimura Y., Muto M., Ohta N. HLA-linked genes controlling immune response and disease susceptibility. Immunol Rev. 1983;70:51–75. doi: 10.1111/j.1600-065x.1983.tb00709.x. [DOI] [PubMed] [Google Scholar]
  12. Todd J. A., Acha-Orbea H., Bell J. I., Chao N., Fronek Z., Jacob C. O., McDermott M., Sinha A. A., Timmerman L., Steinman L. A molecular basis for MHC class II--associated autoimmunity. Science. 1988 May 20;240(4855):1003–1009. doi: 10.1126/science.3368786. [DOI] [PubMed] [Google Scholar]

Articles from The British Journal of Ophthalmology are provided here courtesy of BMJ Publishing Group

RESOURCES