Yuni Hisbiyah, Anang Endaryanto, Bagus Setyoboedi, Nur Rochmah, Muhammad Faizi, Sukmawati Basuki, Asri Maharani
{"title":"HLA DQA1*和HLA- dqb1 *等位基因与唐氏综合征儿童自身免疫性甲状腺炎的遗传易感性：一项印度尼西亚研究","authors":"Yuni Hisbiyah, Anang Endaryanto, Bagus Setyoboedi, Nur Rochmah, Muhammad Faizi, Sukmawati Basuki, Asri Maharani","doi":"10.2478/enr-2025-0010","DOIUrl":null,"url":null,"abstract":"<p><p><b>Objective.</b> The purpose of this study was to investigate the role of the HLA-DQA1 and HLADQB1 alleles in Indonesian children who had autoimmune thyroiditis (AITD) and Down syndrome (DS). <b>Methods.</b> At Dr. Soetomo Hospital, 49 DS-AITD patients and 42 controls participated in a cross-sectional study. Alleles of HLA-DQA1*0103 and HLA-DQB1*0401 were genotyped by PCRRFLP assays. Allelic relationships were assessed by statistical studies. <b>Results.</b> In the DS-AITD group, the HLA-DQA1*0103 and HLA-DQB1*0401 alleles were more frequently found. The HLA-DQB1*0303, *0402, and *0501/0604 alleles, on the other hand, were significantly more common in the control group. While the HLA-DQB1 *0303 (odds ratio [OR]=0.169, 95% confidence interval [CI]: 0.065-0.435, p=0.000) alleles significantly reduced AITD risk, the HLA-DQA1*0103 (OR=3.9, 95% CI: 1.552-9.797, p=0.003), and HLA-DQB1*0401 (OR=4.5, 95% CI: 1.326-15.277, p=0.010) alleles considerably increased AITD risk. <b>Conclusion.</b> HLA-DQA1*0103 and HLA-DQB1*0401 are risk alleles, while HLA-DQB1 *0303 are protective alleles for AITD in children with DS. Further studies are required to obtain more data on Indonesians with DS.</p>","PeriodicalId":11650,"journal":{"name":"Endocrine regulations","volume":"59 1","pages":"87-94"},"PeriodicalIF":0.0000,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"HLA DQA1* and HLA-DQB1* alleles and genetic susceptibility to autoimmune thyroiditis in Down syndrome children: An Indonesian study.\",\"authors\":\"Yuni Hisbiyah, Anang Endaryanto, Bagus Setyoboedi, Nur Rochmah, Muhammad Faizi, Sukmawati Basuki, Asri Maharani\",\"doi\":\"10.2478/enr-2025-0010\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Objective.</b> The purpose of this study was to investigate the role of the HLA-DQA1 and HLADQB1 alleles in Indonesian children who had autoimmune thyroiditis (AITD) and Down syndrome (DS). <b>Methods.</b> At Dr. Soetomo Hospital, 49 DS-AITD patients and 42 controls participated in a cross-sectional study. Alleles of HLA-DQA1*0103 and HLA-DQB1*0401 were genotyped by PCRRFLP assays. Allelic relationships were assessed by statistical studies. <b>Results.</b> In the DS-AITD group, the HLA-DQA1*0103 and HLA-DQB1*0401 alleles were more frequently found. The HLA-DQB1*0303, *0402, and *0501/0604 alleles, on the other hand, were significantly more common in the control group. While the HLA-DQB1 *0303 (odds ratio [OR]=0.169, 95% confidence interval [CI]: 0.065-0.435, p=0.000) alleles significantly reduced AITD risk, the HLA-DQA1*0103 (OR=3.9, 95% CI: 1.552-9.797, p=0.003), and HLA-DQB1*0401 (OR=4.5, 95% CI: 1.326-15.277, p=0.010) alleles considerably increased AITD risk. <b>Conclusion.</b> HLA-DQA1*0103 and HLA-DQB1*0401 are risk alleles, while HLA-DQB1 *0303 are protective alleles for AITD in children with DS. Further studies are required to obtain more data on Indonesians with DS.</p>\",\"PeriodicalId\":11650,\"journal\":{\"name\":\"Endocrine regulations\",\"volume\":\"59 1\",\"pages\":\"87-94\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-09-05\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Endocrine regulations\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2478/enr-2025-0010\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"Print\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Endocrine regulations","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2478/enr-2025-0010","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"Print","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
HLA DQA1* and HLA-DQB1* alleles and genetic susceptibility to autoimmune thyroiditis in Down syndrome children: An Indonesian study.
Objective. The purpose of this study was to investigate the role of the HLA-DQA1 and HLADQB1 alleles in Indonesian children who had autoimmune thyroiditis (AITD) and Down syndrome (DS). Methods. At Dr. Soetomo Hospital, 49 DS-AITD patients and 42 controls participated in a cross-sectional study. Alleles of HLA-DQA1*0103 and HLA-DQB1*0401 were genotyped by PCRRFLP assays. Allelic relationships were assessed by statistical studies. Results. In the DS-AITD group, the HLA-DQA1*0103 and HLA-DQB1*0401 alleles were more frequently found. The HLA-DQB1*0303, *0402, and *0501/0604 alleles, on the other hand, were significantly more common in the control group. While the HLA-DQB1 *0303 (odds ratio [OR]=0.169, 95% confidence interval [CI]: 0.065-0.435, p=0.000) alleles significantly reduced AITD risk, the HLA-DQA1*0103 (OR=3.9, 95% CI: 1.552-9.797, p=0.003), and HLA-DQB1*0401 (OR=4.5, 95% CI: 1.326-15.277, p=0.010) alleles considerably increased AITD risk. Conclusion. HLA-DQA1*0103 and HLA-DQB1*0401 are risk alleles, while HLA-DQB1 *0303 are protective alleles for AITD in children with DS. Further studies are required to obtain more data on Indonesians with DS.
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