TSHR Gene (rs179247) Polymorphism and Susceptibility to Autoimmune Thyroid Disease: A Systematic Review and Meta-Analysis

Author:

Zufry HendraORCID,Hariyanto Timotius Ivan

Abstract

Background: Both Graves’ disease (GD) and Hashimoto’s thyroiditis (HT) are classified as autoimmune thyroid diseases (AITDs). It has been hypothesized that changes in the thyroid-stimulating hormone receptor (<i>TSHR</i>) gene may contribute to the development of these conditions. This study aimed to analyze the correlation between the <i>TSHR</i> rs179247 gene polymorphism and susceptibility to AITD.Methods: We conducted a thorough search of the Google Scholar, Scopus, Medline, and Cochrane Library databases up until March 2, 2024, utilizing a combination of relevant keywords. This review examines data on the association between <i>TSHR</i> rs179247 and susceptibility to AITD. Random-effect models were employed to assess the odds ratio (OR), and the findings are presented along with their respective 95% confidence intervals (CIs).Results: The meta-analysis included 12 studies. All genetic models of the <i>TSHR</i> rs179247 gene polymorphism were associated with an increased risk of developing GD. Specifically, the associations were observed in the dominant model (OR, 1.65; <i>P</i><0.00001), recessive model (OR, 1.65; <i>P</i><0.00001), as well as for the AA genotype (OR, 2.09; <i>P</i><0.00001), AG genotype (OR, 1.39; <i>P</i><0.00001), and A allele (OR, 1.44; <i>P</i><0.00001). Further regression analysis revealed that these associations were consistent regardless of the country of origin, sample size, age, and sex distribution. However, no association was found between <i>TSHR</i> rs179247 and the risk of HT across all genetic models.Conclusion: This study suggests that the <i>TSHR</i> rs179247 gene polymorphism is associated with an increased risk of GD, but not with HT, and may therefore serve as a potential biomarker.

Publisher

Korean Endocrine Society

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