PMID- 33386169 OWN - NLM STAT- MEDLINE DCOM- 20211111 LR - 20211111 IS - 1879-1166 (Electronic) IS - 0198-8859 (Linking) VI - 82 IP - 4 DP - 2021 Apr TI - Critical amino acid variants in HLA-DRB1 allotypes in the development of Graves' disease and Hashimoto's thyroiditis in the Japanese population. PG - 226-231 LID - S0198-8859(20)30441-9 [pii] LID - 10.1016/j.humimm.2020.12.007 [doi] AB - The effects of amino acid variants encoded by human leukocyte antigen (HLA) class II on the development of Graves' disease (GD) and Hashimoto's thyroiditis (HT) have not been fully elucidated. We investigated the HLA-DRB1 genes of 243 GD patients and 82 HT patients in the Japanese population and compared the frequencies of HLA-DRB1 alleles and HLA-DRB1 amino acid variants between these patients and the Japanese populations previously reported by another institution. The frequencies of HLA-DRB1*04:05 and -DRB1*14:03 alleles were significantly higher and those of HLA-DRB1*01:01 and -DRB1*15:02 alleles were lower in GD patients than in controls. The frequencies of HLA-DRB1*08:03 and -DRB1*09:01 alleles were significantly higher and that of the HLA-DRB1*13:02 allele was lower in HT patients than in controls. A blind association analysis with all amino acid positions identified DRss9 and DRss31 for GD and DRss9, DRss13, and DRss21 for HT. The frequency of Glu-9 was significantly higher and that of Cys-9 was lower in GD patients than in controls. The frequencies of Lys-9 and Phe-13 were significantly higher in HT patients than in controls. DRss9 and DRss13 could be critical amino acid positions in the development of GD and HT. CI - Copyright (c) 2020 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved. FAU - Katahira, Masahito AU - Katahira M AD - Aichi Prefectural University School of Nursing and Health, Nagoya, Japan; Department of Endocrinology and Diabetes, Ichinomiya Municipal Hospital, Ichinomiya, Japan. Electronic address: katahira-0034@umin.net. FAU - Ogata, Hidetada AU - Ogata H AD - Department of Endocrinology and Diabetes, Ichinomiya Municipal Hospital, Ichinomiya, Japan. FAU - Takashima, Hiromi AU - Takashima H AD - Department of Endocrinology and Diabetes, Ichinomiya Municipal Hospital, Ichinomiya, Japan. FAU - Ito, Takahiro AU - Ito T AD - Department of Endocrinology and Diabetes, Ichinomiya Municipal Hospital, Ichinomiya, Japan. FAU - Hodai, Yuichi AU - Hodai Y AD - Department of Endocrinology and Diabetes, Ichinomiya Municipal Hospital, Ichinomiya, Japan; Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, Japan. FAU - Miwata, Tsutomu AU - Miwata T AD - Department of Endocrinology and Diabetes, Ichinomiya Municipal Hospital, Ichinomiya, Japan; Department of Endocrinology and Diabetes, Nagoya University Graduate School of Medicine, Nagoya, Japan. FAU - Goto, Megumi AU - Goto M AD - Department of Endocrinology and Diabetes, Ichinomiya Municipal Hospital, Ichinomiya, Japan. FAU - Yamaguchi, Mariko AU - Yamaguchi M AD - Department of Endocrinology and Diabetes, Ichinomiya Municipal Hospital, Ichinomiya, Japan. FAU - Mizoguchi, Akira AU - Mizoguchi A AD - Department of Endocrinology and Diabetes, Ichinomiya Municipal Hospital, Ichinomiya, Japan. FAU - Kawakubo, Mitsuhiro AU - Kawakubo M AD - Department of Endocrinology and Diabetes, Ichinomiya Municipal Hospital, Ichinomiya, Japan; Department of Internal Medicine, Nishio Municipal Hospital, Nishio, Japan. FAU - Nakamura, Shizuka AU - Nakamura S AD - Department of Endocrinology and Diabetes, Ichinomiya Municipal Hospital, Ichinomiya, Japan. LA - eng PT - Journal Article DEP - 20201230 PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (Amino Acids) RN - 0 (HLA-DRB1 Chains) SB - IM MH - Adult MH - Aged MH - Alleles MH - Amino Acids/*genetics MH - Female MH - Gene Frequency MH - Genetic Association Studies MH - Genetic Predisposition to Disease MH - *Genotype MH - Graves Disease/genetics/*immunology MH - HLA-DRB1 Chains/*genetics MH - Hashimoto Disease/genetics/*immunology MH - Humans MH - Japan MH - Male MH - Middle Aged MH - Polymorphism, Genetic OTO - NOTNLM OT - Amino acid variants OT - Graves' disease OT - HLA class II OT - Hashimoto's thyroiditis COIS- Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. EDAT- 2021/01/03 06:00 MHDA- 2021/11/12 06:00 CRDT- 2021/01/02 05:15 PHST- 2020/07/14 00:00 [received] PHST- 2020/10/27 00:00 [revised] PHST- 2020/12/11 00:00 [accepted] PHST- 2021/01/03 06:00 [pubmed] PHST- 2021/11/12 06:00 [medline] PHST- 2021/01/02 05:15 [entrez] AID - S0198-8859(20)30441-9 [pii] AID - 10.1016/j.humimm.2020.12.007 [doi] PST - ppublish SO - Hum Immunol. 2021 Apr;82(4):226-231. doi: 10.1016/j.humimm.2020.12.007. Epub 2020 Dec 30.