PMID- 22731780 OWN - NLM STAT- MEDLINE DCOM- 20121212 LR - 20120813 IS - 1399-0039 (Electronic) IS - 0001-2815 (Linking) VI - 80 IP - 3 DP - 2012 Sep TI - The HLA-DRB1 gene and Graves disease in Taiwanese children: a case-control and family-based study. PG - 224-30 LID - 10.1111/j.1399-0039.2012.01920.x [doi] AB - Graves disease (GD) is an autoimmune thyroid disease with a female preponderance and a wide range of ages at onset, and human leukocyte antigen (HLA) gene plays a primary role in the susceptibility to GD. We aim to investigate the associations between HLA-DRB1 alleles and Taiwanese children with GD by both case-control and family-based studies. A total of 241 unrelated children with GD, 539 healthy controls, 115 trios of affected patients and their parents, and 121 trios of unaffected siblings and their parents were recruited. HLA-DRB1 genotyping was performed by polymerase chain reaction and sequence-based typing assays. We found that DRB1*09:01 (OR=2.60, 95% CI 2.02-3.35, Pc=6.55x10(-13)) was associated with GD risk, while DRB1*12:02 (OR=0.32, 95% CI 0.20-0.53, Pc=4.55x10(-5)) was protective against GD. Transmission/disequilibrium test further confirmed an overtransmission of the DRB1*09:01 (OR 3.37, 95% CI 2.13-6.22, Pc=1.0x10(-5)) and an undertransmission of the DRB1*12:02 (OR 0.21, 95% CI 0.05-0.42, Pc=1.7x10(-3)). The findings were similar in females when stratified by gender. In conclusion, our results clearly identify that HLA-DRB1*09:01 confers susceptibility to GD and DRB1*12:02 exerts protection against GD development in Taiwanese children. CI - (c) 2012 John Wiley & Sons A/S. FAU - Wu, Y-L AU - Wu YL AD - Department of Pediatrics, Mackay Memorial Hospital, and College of Medicine, Taipei Medical University, Taipei, Taiwan. FAU - Chang, T-Y AU - Chang TY FAU - Chu, C-C AU - Chu CC FAU - Huang, C-Y AU - Huang CY FAU - Lo, F-S AU - Lo FS FAU - Ting, W-H AU - Ting WH FAU - Lin, C-H AU - Lin CH FAU - Lin, M AU - Lin M FAU - Chiu, P-C AU - Chiu PC FAU - Lin, C-L AU - Lin CL FAU - Chen, W-F AU - Chen WF FAU - Lee, Y-J AU - Lee YJ LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20120626 PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (Amino Acids) RN - 0 (HLA-DRB1 Chains) SB - IM MH - Adolescent MH - Alleles MH - Amino Acids/genetics MH - Case-Control Studies MH - Child MH - Child, Preschool MH - Family MH - Female MH - Gene Frequency/genetics MH - *Genetic Predisposition to Disease MH - Graves Disease/*genetics/*immunology MH - HLA-DRB1 Chains/*genetics MH - Humans MH - Linkage Disequilibrium/genetics MH - Male MH - Siblings MH - Taiwan/ethnology MH - Young Adult EDAT- 2012/06/27 06:00 MHDA- 2012/12/13 06:00 CRDT- 2012/06/27 06:00 PHST- 2012/03/04 00:00 [received] PHST- 2012/05/03 00:00 [revised] PHST- 2012/06/07 00:00 [accepted] PHST- 2012/06/27 06:00 [entrez] PHST- 2012/06/27 06:00 [pubmed] PHST- 2012/12/13 06:00 [medline] AID - 10.1111/j.1399-0039.2012.01920.x [doi] PST - ppublish SO - Tissue Antigens. 2012 Sep;80(3):224-30. doi: 10.1111/j.1399-0039.2012.01920.x. Epub 2012 Jun 26.