确定亚急性甲状腺炎的发生和复发与人类白细胞抗原亚型之间的关系

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2024-01-01 DOI:10.1089/gtmb.2023.0386
Fatma Nur Korkmaz, Asena Gökçay Canpolat, Klara Dalva, Atilla Halil Elhan, Mustafa Şahin, Demet Çorapçıoğlu, Özgür Demir
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引用次数: 0

摘要

背景:有多项研究调查了人类白细胞抗原(HLA)在亚急性甲状腺炎(SAT)发病和复发中的作用。与亚急性甲状腺炎相关的 HLA 亚型通常是以人群为基础确定的,HLA-B*35、HLA-B*18:01、HLA-C*04:01 和 HLA-DRB1*01 被检测出在疾病易感性和预后中起作用。本研究旨在确定土耳其人群中与 SAT 复发倾向和预防相关的 HLA 等位基因。研究方法这项前瞻性研究的对象是 51 名 SAT 患者和 720 名健康的骨髓捐献志愿者。使用新一代测序技术对 HLA-A、-B、-C、-DRB1 和 -DQB1 进行基因分型。结果显示HLA-A*02:09、HLA-B*35:01/35:02/35:03、HLA-C*04:01、HLA-DRB1*12:01和DRB1*13:03的频率与SAT发病风险的增加有关(比值比分别为22.4、9.5、10.3、4.2和3.5)。HLA-A*02:09、HLA-B*35:01、HLA-B*44:02、HLA-C*07:18 和 HLA-C*16:04 与非复发性 SAT 相关,而 HLA-DR*12:01 与复发性 SAT 相关。与对照组相比,HLA-B*35:02、HLA-B*35:03 和 HLA-C*04:01 在复发组和非复发组中的频率都更高。HLA-B*18:01 曾被报告为一种危险因素,但在 SAT 组和对照组中的出现频率相似(p = 0.959)。HLA-DRB1*11:01 与较低的 SAT 发病风险相关。结论在我国人群中,HLA-A*02:09 与 -B*358 和 -C*04 一起被检测出是 SAT 发病的重要风险因素。HLA-DRB1*11:01 似乎是针对 SAT 的保护性 HLA 亚型。HLA-A*02:09、HLA-B*35:01、HLA-B*44:02、HLA-C*07:18、HLA-C*16:04、HLA-DQ*06:03 和 HLA-DR*12:01 亚型可形成复发性或非复发性 SAT 的倾向。
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Determination of the Relationship Between the Development and Recurrence of Subacute Thyroiditis and Human Leukocyte Antigen Subtypes.

Background: There are several studies investigating the role of human leukocyte antigens (HLA) in the development and recurrence of subacute thyroiditis (SAT). The HLA subtypes associated with SAT were usually determined in a population-based manner and HLA-B*35, HLA-B*18:01, HLA-C*04:01, and HLA-DRB1*01 were detected to play a role in the disease susceptibility and prognosis. The aim of this study was to determine HLA alleles associated with the tendency of recurrence and prevention of SAT within the Turkish population. Methods: This prospective study was conducted with 51 SAT patients and 720 healthy bone marrow donor volunteers. HLA-A, -B, -C, -DRB1, and -DQB1 were genotyped using next-generation sequencing. Results: The frequency of HLA-A*02:09, HLA-B*35:01/35:02/35:03, HLA-C*04:01, HLA-DRB1*12:01, and DRB1*13:03 were associated with an increased risk of SAT development (Odds Ratio: 22.4, 9.5, 10.3, 4.2, and 3.5, respectively). While HLA-A*02:09, HLA-B*35:01, HLA-B*44:02 HLA-C*07:18, and HLA-C*16:04 were associated with nonrelapsing SAT, HLA-DR*12:01was associated with relapsing SAT. HLA-B*35:02, HLA-B*35:03, and HLA-C*04:01 were more frequent both in relapsing and nonrelapsing groups according to control group. The frequency of HLA-B*18:01, reported as a risk factor previously, was similar in the SAT and control groups (p = 0.959). HLA-DRB1*11:01 was associated with a lower risk of SAT development. Conclusions: Along with -B*358 and -C*04, HLA-A*02:09 was detected as an important risk factor for SAT development in our population. HLA-DRB1*11:01 appears to be the protective HLA subtype against SAT. HLA-A*02:09, HLA-B*35:01, HLA-B*44:02, HLA-C*07:18, HLA-C*16:04, HLA-DQ*06:03, and HLA-DR*12:01 subtypes can establish a tendency to relapsing or nonrelapsing SAT.

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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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