مورد إلكتروني
Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population
| العنوان: | Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population |
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| بيانات النشر: | The Endocrine Society 2020-12-22 2012-06 |
| تفاصيل مُضافة: | Horie, Ichiro Kawasaki, Eiji Ando, Takao Kuwahara, Hironaga Abiru, Norio Usa, Toshiro Yamasaki, Hironori Ejima, Eri Kawakami, Atsushi |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | 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. identifier:Journal of Clinical Endocrinology & Metabolism, 97(6), pp.E1043-E1050; 2012 |
| مصطلحات الفهرس: | 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, Young Adult, Journal Article, AM |
| URL: | |
| الإتاحة: | Open access content. Open access content © 2012 by The Endocrine Society. |
| ملاحظة: | English |
| أرقام أخرى: | JPNII oai:irdb.nii.ac.jp:01160:0004783511 0021-972X Journal of Clinical Endocrinology & Metabolism, 97(6), E1043-E1050 1375205590 |
| المصدر المساهم: | NATIONAL INST OF INFO From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1375205590 |
| قاعدة البيانات: | OAIster |
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