MSH5 Gene Polymorphisms Are Associated with Hashimoto's Thyroiditis Susceptibility in a Chinese Han Population.

IF 2.3 4区医学 Q3 IMMUNOLOGY

Immunological Investigations Pub Date : 2026-09-14 DOI:10.1080/08820139.2026.2729081

Xinwei Zhang, Yanfei Jiang, Wenyu Xu, Guangxin Li, Yalin Wang, Qiu Qin, Na Li, Jin-An Zhang

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引用次数: 0

Abstract

Background: This study investigated associations between MSH5 polymorphisms and autoimmune thyroid disease (AITD) susceptibility.

Methods: We genotyped rs409558 and rs707939 in 943 patients with AITD, including 591 with Graves' disease (GD) and 352 with Hashimoto's thyroiditis (HT), and 488 controls. Genetic associations were assessed before and after adjustment for age and sex. MAX3 testing with Bonferroni correction and haplotype analysis were performed. Linkage disequilibrium was assessed in healthy controls.

Results: rs409558 was not associated with AITD or its subtypes. The unadjusted association between rs707939 and overall AITD was attenuated after adjustment. Associations with HT remained significant after adjustment (allele model: OR = 1.28, p = .032; dominant model: OR = 1.84, p = .016). MAX3 testing favored the additive model for HT, with significance retained after Bonferroni correction. The variants shared a haplotype block, with high D' (0.96) but low r² (0.10), indicating limited allelic correlation. The TA haplotype was associated with reduced HT risk (OR = 0.64, 95% CI: 0.51-0.81, p < .001).

Conclusion: MSH5 rs707939 and the TA haplotype were associated with HT susceptibility. Further studies are needed to validate these associations and clarify their functional basis.

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中国汉族人群MSH5基因多态性与桥本甲状腺炎易感性相关

背景：本研究探讨了MSH5多态性与自身免疫性甲状腺疾病（AITD）易感性之间的关系。方法：对943例AITD患者进行rs409558和rs707939基因分型，其中Graves病（GD） 591例，桥本甲状腺炎（HT） 352例，对照组488例。对年龄和性别调整前后的遗传关联进行了评估。进行Bonferroni校正和单倍型分析的MAX3检验。在健康对照中评估连锁不平衡。结果：rs409558与AITD及其亚型无相关性。rs707939与总体AITD之间的未校正相关性在校正后减弱。调整后与HT的相关性仍然显著（等位基因模型：OR = 1.28, p = 0.032；显性模型：OR = 1.84, p = 0.016）。MAX3检验倾向于HT的加性模型，经Bonferroni校正后仍具有显著性。这些变异共享一个单倍型区，高D′（0.96）但低r2(0.10)，表明等位基因相关性有限。TA单倍型与HT风险降低相关（OR = 0.64, 95% CI: 0.51-0.81, p < 0.001）。结论：MSH5 rs707939和TA单倍型与HT易感性相关。需要进一步的研究来验证这些关联并阐明其功能基础。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Immunological Investigations 医学-免疫学

CiteScore

5.50

自引率

7.10%

发文量

审稿时长

3 months

期刊介绍： Disseminating immunological developments on a worldwide basis, Immunological Investigations encompasses all facets of fundamental and applied immunology, including immunohematology and the study of allergies. This journal provides information presented in the form of original research articles and book reviews, giving a truly in-depth examination of the latest advances in molecular and cellular immunology.