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Thyroid Function, Diabetes, and Common Age-Related Eye Diseases: A Mendelian Randomization Study.

Christina Ellervik1,2,3,4, Lena Boulakh5, Alexander Teumer6,7

  • 1Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Thyroid : Official Journal of the American Thyroid Association
|September 16, 2024
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Summary

Autoimmune thyroid disease (AITD) increases the risk of diabetic retinopathy and cataracts, primarily through type 1 diabetes (T1D). Higher free thyroxine (FT4) levels within the normal range are linked to late age-related macular degeneration (AMD), especially in women.

Keywords:
age-related macular degeneration (AMD)autoimmune thyroid diseasecataractdiabetic retinopathyglaucomathyroid function

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Area of Science:

  • Ophthalmology and Endocrinology Genetics
  • Utilizing Mendelian Randomization (MR) to explore causal links between thyroid function and age-related eye diseases.

Background:

  • Previous MR studies indicated associations between hypothyroidism and cataract, and high-normal free thyroxine (FT4) and late age-related macular degeneration (AMD).
  • Gaps existed regarding autoimmune thyroid disease (AITD), glaucoma, bidirectional causality, multivariable MR (MVMR), sex differences, and diabetes mediation.

Purpose of the Study:

  • To investigate the causal relationships and directionality between AITD, FT4/TSH within the reference range, and common age-related eye diseases.
  • To examine the mediating roles of type 1 diabetes (T1D) and type 2 diabetes (T2D) in these associations.
  • To explore potential sex differences in the FT4-AMD link.

Main Methods:

  • Conducted a bidirectional two-sample Mendelian Randomization (MR) study using publicly available genome-wide association study (GWAS) summary statistics.
  • Employed multivariable MR (MVMR) to assess independent causal effects.
  • Investigated T1D and T2D as potential mediators.

Main Results:

  • Genetic predisposition to AITD was associated with increased risk of diabetic retinopathy, cataract, and T1D, but less so with T2D.
  • MVMR indicated that T1D mediated the effects of AITD on diabetic retinopathy and cataract.
  • Higher genetically predicted FT4 within the reference range correlated with increased risk of late AMD, particularly in women. Bidirectional associations were found between AITD, T1D, and diabetic retinopathy.

Conclusions:

  • Genetic predisposition to AITD contributes to the risk of diabetic retinopathy and cataract, largely via T1D.
  • Reciprocal associations between AITD, T1D, and diabetic retinopathy suggest a shared autoimmune etiology.
  • The association between FT4 and late AMD, and potential sex-specific effects, warrant further investigation.