PMID- 17919266 OWN - NLM STAT- MEDLINE DCOM- 20071206 LR - 20221207 IS - 0001-2815 (Print) IS - 0001-2815 (Linking) VI - 70 IP - 5 DP - 2007 Nov TI - Islet autoantibodies are associated with HLA-DQ genotypes in Han Chinese patients with type 1 diabetes and their relatives. PG - 369-75 AB - The objective of this study was to explore the relationship between islet autoantibodies of glutamic acid decarboxylase (GADA), islet antigen-2A (IA-2A), insulin autoantibody (IAA), and human leukocyte antigen (HLA)-DQ genotypes in type 1 diabetes (T1D) patients and their first-degree relatives (FDRs). Cross-sectional and case-control study. Four hundred and ninety-five T1D patients, 419 FDRs, and 376 control subjects in Han Chinese populations were recruited and tested for GADA and IA-2A, while 71 cases, all FDRs and 300 controls were tested for IAA. The 338 T1D patients (including 187 antibody-positive and 151 antibody-negative patients), 173 FDRs and 278 controls were genotyped for HLA-DQ with polymerase chain reaction sequencing-based method. Compared with the control, the frequency of DQA1*03-DQB1*0303, DQA1*05-DQB1*0201, and DQA1*03-DQB1*0401 haplotypes was higher (P < 0.05-0.01) but DQA1*0102-DQB1*0602 haplotype was lower (P < 0.01) in T1D patients. DQA1*03 allele was less in the FDRs than in their probands (P < 0.05). GADA was more prevalent in T1D patients carrying DQA1*05-DQB1*0201 or DQA1*03-DQB1*0401 haplotype (55.8% vs 41.0%, 65.5% vs 40.3%, P < 0.05-0.01), whereas IA-2A presented more in the patients carrying DQA1*03-DQB1*0303 haplotype (27.0% vs 7.9%, P < 0.05-0.01), both GADA and IA-2A showed frequently in the patients with DQA1*03-DQB1*0303/DQA1*05-DQB1*0201 haplotypes (34.5% vs 9.7%, P < 0.01). GADA positivity was lower in the patients with DQA1*0102-DQB1*0602 haplotype (16.7% vs 45.9%, P < 0.05). The frequency of IAA was not different between patients with and without susceptible DQ haplotypes (P > 0.05). GADA, IA-2A or IAA presented frequently in FDRs with DQA1*03-DQB1*0303 haplotype. The findings in the study indicate that some of specific HLA-DQA1/-DQB1 genotypes and haplotypes not only confer susceptibility to T1D but also are associated with the presence of the islet autoantibodies in the Han Chinese population. FAU - Wang, J-P AU - Wang JP AD - Department of Endocrinology, Diabetes Center, Institute of Metabolism and Endocrinology, Second Xiangya Hospital, Central South University, Changsha, Hunan, China. FAU - Zhou, Z-G AU - Zhou ZG FAU - Lin, J AU - Lin J FAU - Huang, G AU - Huang G FAU - Zhang, C AU - Zhang C FAU - Yang, L AU - Yang L FAU - Yuan, Y AU - Yuan Y FAU - Zhou, H-F AU - Zhou HF FAU - Zhou, M AU - Zhou M FAU - Hou, C AU - Hou C FAU - Zhou, W-D AU - Zhou WD FAU - Peng, H AU - Peng H FAU - Hagopian, W A AU - Hagopian WA LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (Autoantibodies) 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) RN - 0 (Insulin Antibodies) RN - 0 (Membrane Glycoproteins) RN - 0 (islet cell antibody) RN - EC 3.1.3.48 (PTPRN protein, human) RN - EC 3.1.3.48 (Receptor-Like Protein Tyrosine Phosphatases, Class 8) RN - EC 4.1.1.15 (Glutamate Decarboxylase) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Asian People MH - Autoantibodies/genetics/*immunology MH - Case-Control Studies MH - Child MH - Child, Preschool MH - China MH - Cross-Sectional Studies MH - Diabetes Mellitus, Type 1/*genetics/*immunology MH - Family MH - Female MH - Gene Frequency/immunology MH - Genetic Predisposition to Disease/*genetics MH - Genotype MH - Glutamate Decarboxylase/genetics/immunology MH - HLA-DQ Antigens/*genetics/immunology MH - HLA-DQ alpha-Chains MH - HLA-DQ beta-Chains MH - Humans MH - Insulin Antibodies/genetics/immunology MH - Male MH - Membrane Glycoproteins/*genetics/immunology MH - Middle Aged MH - Receptor-Like Protein Tyrosine Phosphatases, Class 8/genetics/immunology EDAT- 2007/10/09 09:00 MHDA- 2007/12/07 09:00 CRDT- 2007/10/09 09:00 PHST- 2007/10/09 09:00 [pubmed] PHST- 2007/12/07 09:00 [medline] PHST- 2007/10/09 09:00 [entrez] AID - TAN916 [pii] AID - 10.1111/j.1399-0039.2007.00916.x [doi] PST - ppublish SO - Tissue Antigens. 2007 Nov;70(5):369-75. doi: 10.1111/j.1399-0039.2007.00916.x.