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Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population

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Title: Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population
Authors: Horie, Ichiro / Kawasaki, Eiji / Ando, Takao / Kuwahara, Hironaga / Abiru, Norio / Usa, Toshiro / Yamasaki, Hironori / Ejima, Eri / Kawakami, Atsushi
Issue Date: Jun-2012
Publisher: The Endocrine Society
Citation: Journal of Clinical Endocrinology & Metabolism, 97(6), pp.E1043-E1050; 2012
Abstract: 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.
Keywords: autoantibody / cytotoxic T lymphocyte antigen 4 / glutamate decarboxylase antibody / HLA DQB1 antigen / HLA DRB1 antigen / adult / article / autoimmune disease / autoimmune polygrandular syndrome type 3 / autoimmune thyroiditis / clinical feature / controlled study / CTLA4 gene / disease association / female / gene / gene frequency / genetic analysis / genetic association / haplotype / human / insulin dependent diabetes mellitus / Japanese / major clinical study / male / onset age / priority journal / sex difference / single nucleotide polymorphism / Adolescent / Age of Onset / Asian Continental Ancestry Group / Autoantibodies / Child / Child, Preschool / Diabetes Mellitus, Type 1 / Female / Haplotypes / HLA-DQ beta-Chains / HLA-DRB1 Chains / Humans / Islets of Langerhans / Japan / Middle Aged / Polyendocrinopathies / Autoimmune / Prevalence / Seroepidemiologic Studies / Sex Distribution / Thyroiditis / Autoimmune / Young Adult
URI: http://hdl.handle.net/10069/29379
ISSN: 0021972X
DOI: 10.1210/jc.2011-3109
Rights: © 2012 by The Endocrine Society.
Type: Journal Article
Text Version: author
Appears in Collections:Articles in academic journal

Citable URI : http://hdl.handle.net/10069/29379

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