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Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population.
J Clin Endocrinol Metab 2012; 97(6):E1043-50JC

Abstract

OBJECTIVE

Type 1 diabetes (T1D) is commonly associated with autoimmune thyroid 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.

Authors+Show Affiliations

Department of Metabolism/Diabetes and Clinical Nutrition, Nagasaki University Hospital, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22466347

Citation

Horie, Ichiro, et al. "Clinical and Genetic Characteristics of Autoimmune Polyglandular Syndrome Type 3 Variant in the Japanese Population." The Journal of Clinical Endocrinology and Metabolism, vol. 97, no. 6, 2012, pp. E1043-50.
Horie I, Kawasaki E, Ando T, et al. Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. J Clin Endocrinol Metab. 2012;97(6):E1043-50.
Horie, I., Kawasaki, E., Ando, T., Kuwahara, H., Abiru, N., Usa, T., ... Kawakami, A. (2012). Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. The Journal of Clinical Endocrinology and Metabolism, 97(6), pp. E1043-50. doi:10.1210/jc.2011-3109.
Horie I, et al. Clinical and Genetic Characteristics of Autoimmune Polyglandular Syndrome Type 3 Variant in the Japanese Population. J Clin Endocrinol Metab. 2012;97(6):E1043-50. PubMed PMID: 22466347.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and genetic characteristics of autoimmune polyglandular syndrome type 3 variant in the Japanese population. AU - Horie,Ichiro, AU - Kawasaki,Eiji, AU - Ando,Takao, AU - Kuwahara,Hironaga, AU - Abiru,Norio, AU - Usa,Toshiro, AU - Yamasaki,Hironori, AU - Ejima,Eri, AU - Kawakami,Atsushi, Y1 - 2012/03/30/ PY - 2012/4/3/entrez PY - 2012/4/3/pubmed PY - 2012/8/16/medline SP - E1043 EP - 50 JF - The Journal of clinical endocrinology and metabolism JO - J. Clin. Endocrinol. Metab. VL - 97 IS - 6 N2 - OBJECTIVE: Type 1 diabetes (T1D) is commonly associated with autoimmune thyroid 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. SN - 1945-7197 UR - https://www.unboundmedicine.com/medline/citation/22466347/Clinical_and_genetic_characteristics_of_autoimmune_polyglandular_syndrome_type_3_variant_in_the_Japanese_population_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2011-3109 DB - PRIME DP - Unbound Medicine ER -