PMID- 7608264 OWN - NLM STAT- MEDLINE DCOM- 19950811 LR - 20111117 IS - 0021-972X (Print) IS - 0021-972X (Linking) VI - 80 IP - 7 DP - 1995 Jul TI - Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and HLA DQB1 are shared in endocrine autoimmune disease. PG - 2112-7 AB - Because particular human leukocyte antigen (HLA) DQ alleles are the major predisposing factors for type 1 diabetes mellitus (IDDM), we investigated whether they are shared by other endocrine autoimmune diseases. We, therefore, analyzed the HLA DQ genotypes of 171 patients with IDDM, 271 with Graves' disease (GD), 65 with Hashimoto's thyroiditis, 51 with postpartum thyroiditis, 53 with Addison's disease (AD), and 271 healthy controls. HLA DQA1 and DQB1 alleles were defined by polymerase chain reaction and sequence-specific oligonucleotide hybridization as well as by single strand conformational polymorphism analysis. HLA DQA1*0501 was significantly more frequent in IDDM (60%), GD (65%), and AD (70%) than in controls (43%); DQA1*0301 was significantly more frequent only in IDDM (67% vs. 30% controls). The heterozygous state DQA1*0301/*0501 was found in 9% of controls and 35% of IDDM (relative risk, 5.6). An arginine at position 52 on either DQA1 allele was significantly more frequent in patients with IDDM (94%), GD (80%), and AD (89%) compared with controls (66%). HLA DQB1*0201 and DQB1*0302 were more frequent in IDDM patients (*0201, 62% vs. 36% in controls, *0302, 59% vs. 19% controls), whereas DQB1*0602 was less frequent in IDDM (4%) and GD (18% vs. 31% of controls). In conclusion, endocrine autoimmunity has a common immunogenetic background; susceptibility is conferred by DQA1*0501 as well as an arginine at position 52 of DQA1 alleles, and protection against IDDM and GD is conferred by DQB1*0602. FAU - Badenhoop, K AU - Badenhoop K AD - Medical Clinic, Klinikum of the Johann Wolfgang Goethe-University, Frankfurt/Main, Germany. FAU - Walfish, P G AU - Walfish PG FAU - Rau, H AU - Rau H FAU - Fischer, S AU - Fischer S FAU - Nicolay, A AU - Nicolay A FAU - Bogner, U AU - Bogner U FAU - Schleusener, H AU - Schleusener H FAU - Usadel, K H AU - Usadel KH LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - J Clin Endocrinol Metab JT - The Journal of clinical endocrinology and metabolism JID - 0375362 RN - 0 (DNA Primers) RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ alpha-Chains) RN - 0 (HLA-DQ beta-Chains) RN - 0 (HLA-DQA1 antigen) RN - 0 (HLA-DQB1 antigen) SB - IM MH - Addison Disease/genetics/immunology MH - Adolescent MH - Adult MH - Age of Onset MH - *Alleles MH - Autoimmune Diseases/*genetics/immunology MH - Base Sequence MH - DNA Primers MH - Diabetes Mellitus, Type 1/genetics/immunology MH - Disease Susceptibility/immunology MH - Female MH - *Genes, MHC Class II MH - Genetic Predisposition to Disease MH - Graves Disease/genetics/immunology MH - HLA-DQ Antigens/*genetics MH - HLA-DQ alpha-Chains MH - HLA-DQ beta-Chains MH - Humans MH - Immunity, Innate/genetics/immunology MH - Molecular Sequence Data MH - Puerperal Disorders/genetics/immunology MH - Reference Values MH - Thyroiditis/genetics/immunology MH - Thyroiditis, Autoimmune/genetics/immunology EDAT- 1995/07/01 00:00 MHDA- 1995/07/01 00:01 CRDT- 1995/07/01 00:00 PHST- 1995/07/01 00:00 [pubmed] PHST- 1995/07/01 00:01 [medline] PHST- 1995/07/01 00:00 [entrez] AID - 10.1210/jcem.80.7.7608264 [doi] PST - ppublish SO - J Clin Endocrinol Metab. 1995 Jul;80(7):2112-7. doi: 10.1210/jcem.80.7.7608264.