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Genetically predicted plasma cortisol and common chronic diseases: A Mendelian randomization study

Wei-Hsuan Lee1, Susanna C Larsson2,3, Angela Wood1,4,5,6,7

  • 1British Heart Foundation, Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

Clinical Endocrinology
|September 5, 2023
PubMed

Insights

Lifelong elevated cortisol (hypercortisolaemia) is linked to increased hypertension risk. This study found a causal association, potentially mediated by obesity, but no link to type 2 diabetes or other conditions.

Area of Science:

  • Endocrinology
  • Genetics
  • Epidemiology

Background:

  • Cushing's syndrome involves high cortisol (hypercortisolaemia) and is linked to type 2 diabetes, hypertension, osteoporosis, depression, and schizophrenia.
  • The causal link between moderate, lifelong hypercortisolaemia and these conditions in the general population remains unclear.

Purpose of the Study:

  • To investigate the causal association between genetically predicted plasma cortisol and major comorbidities using Mendelian randomization.
  • To explore potential mediating factors, such as obesity, in the cortisol-hypertension relationship.

Main Methods:

  • Employed a two-sample, inverse-variance-weighted Mendelian randomization analysis.
  • Utilized three cortisol-associated genetic variants in the SERPINA6/SERPINA1 region as instrumental variables.
  • Conducted multivariable Mendelian randomization to assess mediation by waist circumference.

Main Results:

  • A genetically predicted 1 SD increase in plasma cortisol was associated with higher odds of hypertension (OR: 1.12; 95% CI: 1.05-1.18).
  • Elevated cortisol predicted increased systolic and diastolic blood pressure (MD: 0.03 SD change for both).
  • No causal association was found with type 2 diabetes, osteoporosis, depression, or schizophrenia. The hypertension link was reduced when accounting for waist circumference.

Conclusions:

  • Strong evidence supports a causal relationship between plasma cortisol levels and an increased risk of hypertension.
  • Obesity may mediate the association between cortisol and hypertension.
Abstract

Keywords:
Mendelian randomizationchronic diseasescortisolhypertensionmajor mental illnessosteoporosistype 2 diabetes

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