PMID- 1450621 OWN - NLM STAT- MEDLINE DCOM- 19930107 LR - 20221207 IS - 0941-0198 (Print) IS - 0941-0198 (Linking) VI - 70 IP - 10 DP - 1992 Oct TI - HLA-DRB3 gene alleles in Caucasian patients with Graves' disease. PG - 956-60 AB - 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. FAU - Boehm, B O AU - Boehm BO AD - Klinikum der Johann Wolfgang Goethe-Universitat, Zentrum der Inneren Medizin, Frankfurt, Main. FAU - Kuhnl, P AU - Kuhnl P FAU - Manfras, B J AU - Manfras BJ FAU - Chen, M AU - Chen M FAU - Lee, J C AU - Lee JC FAU - Holzberger, G AU - Holzberger G FAU - Seidl, S AU - Seidl S FAU - Schifferdecker, E AU - Schifferdecker E FAU - Schumm-Draeger, P M AU - Schumm-Draeger PM FAU - Usadel, K H AU - Usadel KH LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Germany TA - Clin Investig JT - The Clinical investigator JID - 9207154 RN - 0 (Biomarkers) RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB3 Chains) RN - 9007-49-2 (DNA) SB - IM MH - Alleles MH - Base Sequence MH - Biomarkers/blood MH - DNA/analysis MH - Graves Disease/*genetics MH - HLA-DR Antigens/*genetics MH - HLA-DRB3 Chains MH - Heterozygote MH - Humans MH - Molecular Sequence Data MH - Polymerase Chain Reaction MH - Retrospective Studies MH - Risk Factors MH - Serologic Tests MH - White People/*genetics EDAT- 1992/10/01 00:00 MHDA- 1992/10/01 00:01 CRDT- 1992/10/01 00:00 PHST- 1992/10/01 00:00 [pubmed] PHST- 1992/10/01 00:01 [medline] PHST- 1992/10/01 00:00 [entrez] AID - 10.1007/BF00180447 [doi] PST - ppublish SO - Clin Investig. 1992 Oct;70(10):956-60. doi: 10.1007/BF00180447.