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Related Concept Videos

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Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
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Related Experiment Video

Updated: Jun 12, 2025

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
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Hypothyroidism and dermato/polymyositis: a two-sample Mendelian randomization study.

Qianqian Li1, Shaoying Yang1, Yan Ma1

  • 1Department of Rheumatology, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Frontiers in Endocrinology
|September 19, 2024
PubMed
Summary

Hypothyroidism may cause dermatomyositis (DM) and polymyositis (PM). This study used Mendelian randomization to analyze genetic data, finding a causal link between hypothyroidism and increased risk of DM and PM.

Keywords:
Mendelian randomizationdermatomyositishypothyroidismimmune diseasepolymyositis

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Area of Science:

  • Endocrinology
  • Rheumatology
  • Genetics

Background:

  • Observational studies suggest a link between hypothyroidism and inflammatory myopathies like dermatomyositis (DM) and polymyositis (PM).
  • However, a causal relationship has not been established, necessitating further investigation into the underlying mechanisms.

Purpose of the Study:

  • To investigate the potential causal association between hypothyroidism and the risk of developing dermatomyositis (DM) or polymyositis (PM).
  • To utilize two-sample Mendelian randomization (TSMR) to assess this causal link using genetic data.

Main Methods:

  • Genome-wide association study (GWAS) data for hypothyroidism, DM, and PM were obtained from the IEU Open GWAS project.
  • Two-sample Mendelian randomization (TSMR) was employed, with single-nucleotide polymorphisms (SNPs) associated with hypothyroidism serving as instrumental variables (IVs).
  • Statistical models including inverse variance weighted (IVW), MR-Egger, weighted median, and weighted modes were used, alongside tests for heterogeneity and pleiotropy.

Main Results:

  • A significant positive causal effect of hypothyroidism on both DM (OR 2.563, P=0.00156) and PM (OR 1.709, P=0.007) was identified.
  • Sixty-eight SNPs for DM and 68 SNPs for PM were utilized as IVs.
  • No significant heterogeneity or pleiotropy was detected, supporting the validity of the findings.

Conclusions:

  • The Mendelian randomization analysis provides robust evidence suggesting a causal role of hypothyroidism in the development of DM and PM.
  • These findings highlight the potential importance of thyroid hormone status in the pathogenesis of these autoimmune conditions.
  • The results may inform future therapeutic strategies for DM and PM by considering thyroid function.