PMID- 8675578 OWN - NLM STAT- MEDLINE DCOM- 19960815 LR - 20111117 IS - 0021-972X (Print) IS - 0021-972X (Linking) VI - 81 IP - 7 DP - 1996 Jul TI - Although DR3-DQB1*0201 may be associated with multiple component diseases of the autoimmune polyglandular syndromes, the human leukocyte antigen DR4-DQB1*0302 haplotype is implicated only in beta-cell autoimmunity. PG - 2559-63 AB - Human leukocyte antigen (HLA)-DRB1 and -DQB1 alleles were analyzed using a PCR-based sequence-specific priming technique in 16 patients with autoimmune polyglandular syndrome type I (APS-I), 31 patients with APS-II, and 110 patients with component diseases of APS-II, including 9 patients with isolated Addison's disease, 43 patients with Hashimoto's thyroiditis, 22 patients with Graves' disease, and 36 patients with vitiligo. No significant associations was observed between HLA and APS-I patients in our data set, nor was sharing of HLA haplotypes by sibling pairs affected by APS I significantly different from the random expectation. Thus, HLA-DRB1 and -DQB1 genes are probably not involved in APS-I. To delineate the associations between HLA-DRB1, DQB1, and APS-II, we analyzed APS-II patients with or without beta-cell autoimmunity [i.e. insulin-dependent diabetes (IDD) and/or islet cell or glutamic acid decarboxylase autoantibodies]. Our results suggest that the association between DR4-DQB1*0302 and APS-II was entirely due to the presence of pancreatic beta-cell autoimmunity, since this haplotype was otherwise not significantly associated with APS-II or with any other of its component diseases. In contrast, the DR3-DQB1*0201 haplotype was associated not only with IDD, but also with APS-II in the absence of pancreatic beta-cell autoimmunity, as were several its component diseases, including isolated Addison's disease, Graves' disease, and Hashimoto's thyroiditis. Interestingly, the frequency of DQB1*0602, a dominantly protective allele against IDD, was not significantly decreased in the APS-II patients with IDD or beta-cell autoimmunity, albeit the patient numbers were small. This phenomenon may suggest that the development of autoimmunity to nonpancreatic endocrine glands may predispose autoimmunity to the pancreatic beta-cells and involve genes other than those of the MHC. FAU - Huang, W AU - Huang W AD - Department of Pathology, University of Florida College of Medicine, Gainesville 32610, USA. FAU - Connor, E AU - Connor E FAU - Rosa, T D AU - Rosa TD FAU - Muir, A AU - Muir A FAU - Schatz, D AU - Schatz D FAU - Silverstein, J AU - Silverstein J FAU - Crockett, S AU - Crockett S FAU - She, J X AU - She JX FAU - Maclaren, N K AU - Maclaren NK LA - eng GR - GCRC-RR-082./RR/NCRR NIH HHS/United States GR - HD-19469/HD/NICHD NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PT - Research Support, U.S. Gov't, P.H.S. PL - United States TA - J Clin Endocrinol Metab JT - The Journal of clinical endocrinology and metabolism JID - 0375362 RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ beta-Chains) RN - 0 (HLA-DQB1 antigen) RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Autoimmune Diseases/genetics/*immunology MH - Child MH - HLA-DQ Antigens/*genetics/immunology MH - HLA-DQ beta-Chains MH - HLA-DR Antigens/*genetics/immunology MH - HLA-DRB1 Chains MH - *Haplotypes MH - Humans MH - Islets of Langerhans/*immunology MH - Middle Aged MH - Polyendocrinopathies, Autoimmune/genetics/*immunology EDAT- 1996/07/01 00:00 MHDA- 1996/07/01 00:01 CRDT- 1996/07/01 00:00 PHST- 1996/07/01 00:00 [pubmed] PHST- 1996/07/01 00:01 [medline] PHST- 1996/07/01 00:00 [entrez] AID - 10.1210/jcem.81.7.8675578 [doi] PST - ppublish SO - J Clin Endocrinol Metab. 1996 Jul;81(7):2559-63. doi: 10.1210/jcem.81.7.8675578.