HLA-DRB3 gene alleles in Caucasian patients with Graves' disease.
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| Abstract |
Graves' disease (GD) is a human leukocyte antigen (HLA) linked organ-specific autoimmune disease. In German GD patients the disease is associated with HLA specificities of the HLA-DRw52 family (HLA-DR3, -DR5, and DR6; HLA-DRB3 positive HLA haplotypes). Recently, a strong association with a HLA-DRB3 restriction fragment length polymorphism gene has been described. To study HLA-DRB3 alleles and their association with the disease, a large cohort of controls (n = 3724) and GD patients (n = 304) was analyzed. HLA-DR allelic combinations revealed an increase in HLA-DR3/DR5 heterozygous patients (relative risk 2.9; P < 0.001). HLA-DRB3 alleles, as defined by DNA typing in HLA-DR matched groups revealed a significant increase in DRB3*0101 homozygosity (relative risk 17.5; P < 0.001) in HLA-DR3 homozygous patients. In GD patients with ophthalmopathy (grade II or higher, according to Werner) DRB3*0101/*0202 heterozygosity revealed an increased relative risk of 5.5 (P < 0.001). Non-HLA-DR3 homozygous, DRB3*0101/*0202 heterozygous patients were at the highest risk for endocrine ophthalmopathy (relative risk 10; P < 0.001). Our data, based on DNA typing methods of HLA-D genes, provide evidence that the susceptibility is strongly associated with HLA-DRB3 genes.
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| Authors | B O Boehm, P Kühnl, B J Manfras, M Chen, J C Lee, G Holzberger, S Seidl, E Schifferdecker, P M Schumm-Draeger, K H Usadel |
| Journal | The Clinical investigator (Clin Investig) Vol. 70 Issue 10 Pg. 956-60 (Oct 1992) ISSN: 0941-0198 [Print] Germany |
| PMID | 1450621 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't) |
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