HLA-DRB3 gene alleles in Caucasian patients with Graves' disease |
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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 |
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Affiliation: | (1) Klinikum der Johann Wolfgang Goethe-Universität, Zentrum der Inneren Medizin, Frankfurt/Main;(2) Universitätsklinikum Eppendorf, UKE, Hamburg;(3) Klinikum der Johann Wolfgang Goethe-Universität, Institut fur Immunhämatologie, Frankfurt/Main;(4) Medizinische Klinik, Universitätsklinikum Bergmannsheil, Bochum;(5) Klinikum der Johann Wolfgang Goethe-Universität, Zentrum der Inneren Medizin, Theodor-Stern-Kai 7, W-6000 Frankfurt/Main 70, Germany |
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Abstract: | Summary 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.Abbreviations EF etiological fraction - GD Graves' disease - HLA human leukocyte antigen - RR relative risk |
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Keywords: | Graves' disease HLA-DRB3 alleles Endocrine ophthalmopathy |
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