@article{oai:nagasaki-u.repo.nii.ac.jp:00010818,
 author = {Horie, Ichiro and Kawasaki, Eiji and Ando, Takao and Kuwahara, Hironaga and Abiru, Norio and Usa, Toshiro and Yamasaki, Hironori and Ejima, Eri and Kawakami, Atsushi},
 issue = {6},
 journal = {Journal of Clinical Endocrinology & Metabolism},
 month = {Jun},
 note = {Objective: Type 1 diabetes (T1D) iscommonlyassociated withautoimmunethyroid disease (AITD),and the occurrence of both T1D and AITD in a patient is defined as autoimmune polyglandular syndrome type 3 variant (APS3v). We aimed to clarify the differences in the clinical and genetic characteristics of APS3v patients and T1D patients without AITD [T1D/AITD(-)] in the Japanese population. Design/Patients: Our subjects were 54 APS3v patients and 143 T1D/AITD(-) patients who were consecutively diagnosed at Nagasaki University Hospital from 1983 to the present. Results: A remarkable female predominance, a slow and older age onset of T1D, and a higher prevalence of glutamic acid decarboxylase autoantibodies were observed in APS3v patients compared to T1D/AITD(-) patients. The older onset age of T1D in APS3v patients was associated with a higher proportion of slow-onset T1D. Among the two major susceptible human leukocyte antigen (HLA) class II haplotypes in Japanese T1D, DRB1*0405- DQB1*0401, but not DRB1*0901-DQB1*0303, was associated with APS3v patients. Furthermore, DRB1*0803-DQB1*0601 was not protective in patients with APS3v. The frequencies of the GG genotype in +49G>A and +6230G>A polymorphism in the CTLA4 gene were significantly higher in T1D/AITD(-) patients, but not in APS3v patients, compared to control subjects. Conclusions: In conclusion, we found notable differences in the clinical and genetic characteristics of APS3v patients and T1D/AITD(-) patients in the Japanese population, and the differences in the clinical characteristics between the two groups may reflect distinct genetic backgrounds including the HLA DRB1-DQB1 haplotypes and CTLA4 gene polymorphisms., Journal of Clinical Endocrinology & Metabolism, 97(6), pp.E1043-E1050; 2012},
 pages = {E1043--E1050},
 title = {Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population},
 volume = {97},
 year = {2012}
}