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Updated: Jul 15, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Effect of genetically determined BCAA levels on cardiovascular diseases and their risk factors: A Mendelian

Zheng Zuo1, Yi Tong1, Minghua Li1

  • 1Cardiovascular Medicine Department, Cardiology Center, First Hospital of Jilin University, Changchun, Jilin Province, China.

Nutrition, Metabolism, and Cardiovascular Diseases : NMCD
|October 3, 2023
PubMed

Insights

Genetically determined branched-chain amino acid (BCAA) levels are linked to an increased risk of hypertension. This Mendelian randomization study found no causal effect on other cardiovascular diseases, highlighting a specific association with high blood pressure.

Area of Science:

  • Genetics
  • Metabolic Health
  • Cardiovascular Epidemiology

Background:

  • Observational studies suggest a link between serum branched-chain amino acids (BCAAs) and cardiovascular disease (CVD) risk.
  • The causal relationship between BCAAs and CVDs remains unclear.

Purpose of the Study:

  • To investigate the causal effect of genetically determined BCAA levels on CVDs and their risk factors.
  • Utilizing Mendelian randomization (MR) to assess causality.

Main Methods:

  • Performed univariable and multivariable Mendelian randomization analyses.
  • Used summary-level data from multiple Genome-Wide Association Studies (GWASs) and the FinnGen consortium.
  • Employed random-effects IVW and fixed-effects models for robust analysis.

Main Results:

  • Genetically determined total and individual BCAA levels were associated with a higher risk of hypertension.
  • No evidence of a causal relationship was found between BCAA levels and three specific cardiovascular diseases or other risk factors.
  • Odds of hypertension increased per 1-SD increase in total BCAA levels (OR=1.02, P=0.005), valine (OR=1.02, P<0.0001), leucine (OR=1.02, P<0.01), and isoleucine (OR=1.02, P<0.0001).

Conclusions:

  • Total and individual BCAA levels may be associated with an elevated risk of hypertension.
  • This Mendelian randomization study provides evidence for a potential causal link between BCAAs and hypertension.
Abstract

Keywords:
Branched-chain amino acidsCardiovascular diseasesIsoleucineLeucineMendelian randomizationValine

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