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Korean Journal of Clinical Laboratory Science
Article . 2025 . Peer-reviewed
License: CC BY NC
Data sources: Crossref
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Association between TG Genetic Polymorphisms and Thyroid Diseases

Authors: Gaeun KIM; Eun-Jung KIM;

Association between TG Genetic Polymorphisms and Thyroid Diseases

Abstract

Thyroid diseases are among the most prevalent endocrine diseases and are more common in females. A genetic association study of 104 single nucleotide polymorphisms (SNPs) within the TG gene was conducted using data from the Korean Genome and Epidemiology Study (KoGES) to identify SNPs associated with thyroid diseases. The analysis identified 28 significant SNPs, with rs2248346 (odds ratio=1.46, P=5.30×10-3) as the most significant variant. Haploview-based linkage disequilibrium (LD) analysis revealed five LD blocks, with strong genetic associations observed between blocks 2 and 3 and blocks 4 and 5. Locuszoom analysis identified rs2248346 at the 3’ end of the TG gene, showing high LD (r2≥0.8) with neighboring SNPs in a low recombination rate region. RegulomeDB analysis identified six SNPs with high regulatory potential, influencing transcription factor binding sites and chromatin accessibility. Expression quantitative trait loci analysis showed that rs2246611 (normalized effect size=-0.37, P=1.96×10-5) was linked to reduced TG expression in esophagus-gastroesophageal junction tissue. Splicing quantitative trait loci analysis identified 11 SNPs affecting RNA splicing in thyroid tissue. These findings underscore the role of TG genetic polymorphisms in the etiology of thyroid diseases in Koreans, supporting their potential as biomarkers for precision diagnostics and targeted therapies.

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Keywords

Medicine (General), R5-920, genetic association study; polymorphism, single nucleotide; thyroglobulin; thyroid diseases

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
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