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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

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Related Experiment Video

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Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
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Genetic Polymorphisms on 4q21.1 Contributed to the Risk of Hashimoto's Thyroiditis.

Dachao Mo1, Junjiu Li1, Liang Peng1

  • 1Department of General Surgery, Dongguan Tungwah Hospital, Dongguan, China.

Genetic Testing and Molecular Biomarkers
|November 22, 2019
PubMed
Summary

Genetic variants near the NAAA gene, specifically SNP rs2276886, are linked to Hashimoto's thyroiditis susceptibility in Chinese Han populations. This finding offers insights into the genetic underpinnings of autoimmune thyroid disease.

Keywords:
4q21.1CXCL9Hashimoto's thyroiditisNAAAsingle nucleotide polymorphisms

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Area of Science:

  • Immunogenetics
  • Genomics
  • Endocrinology

Background:

  • Hashimoto's thyroiditis (HT) is a prevalent autoimmune disorder involving thyroid gland inflammation.
  • Genetic factors significantly influence HT susceptibility, with previous studies identifying associations in specific populations.
  • The single nucleotide polymorphism (SNP) rs2276886 near the CXCL9 gene was previously linked to autoimmune thyroid disease in Japanese individuals.

Purpose of the Study:

  • To validate the association of SNP rs2276886 with Hashimoto's thyroiditis risk in a Chinese Han population.
  • To investigate the functional consequences of associated SNPs using bioinformatics tools.

Main Methods:

  • Genotyping of 10 SNPs within the CXCL9 gene region in 688 HT cases and 1456 healthy controls.
  • Logistic regression models were used for genetic association analyses.
  • Bioinformatics tools (RegulomeDB, GTEx) were employed to assess potential functional impacts of SNPs.

Main Results:

  • SNP rs2276886 showed a significant association with HT risk (OR=1.25, p=0.0006).
  • No significant expression quantitative trait loci (eQTL) signals were found for CXCL9.
  • Bioinformatic analysis suggested that rs2276886 might influence the NAAA gene rather than CXCL9, despite mapping to the CXCL9 region.

Conclusions:

  • The SNP rs2276886 is significantly associated with Hashimoto's thyroiditis susceptibility in the Chinese Han population.
  • The functional impact of rs2276886 appears to be on the NAAA gene, contributing to HT risk.
  • This study highlights the importance of investigating genetic associations in diverse populations and clarifying gene-SNP relationships.