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Genetically proxied appendicular lean mass and stroke risk: A two-step mendelian randomization study.
Zhiming Li1, Xueyun Liu1, Jianshang Wen2
1Department of Neurology, The Second Affiliated Hospital of Anhui Medical University, Hefei 230601, Anhui, China.
Summary
Lower appendicular lean mass (ALM) is linked to increased stroke risk. Higher ALM may protect against stroke, with hypertension and blood pressure playing a mediating role.
Area of Science:
- Genetics
- Neurology
- Gerontology
Background:
- Observational studies suggest sarcopenia and stroke are linked, but causality is unclear.
- Sarcopenia, characterized by muscle mass loss, impacts aging populations.
- Stroke remains a leading cause of disability and mortality worldwide.
Purpose of the Study:
- To investigate the causal relationship between genetically predicted sarcopenia-related traits and stroke.
- Utilize a two-step Mendelian randomization (MR) approach for robust genetic analysis.
- Examine potential mediating factors in the ALM-stroke association.
Main Methods:
- Acquired genome-wide association study (GWAS) data for sarcopenia traits from UK Biobank.
- Selected genetic associations for ischemic stroke (IS) subtypes from MEGASTROKE and cerebral hemorrhage from FinnGen.
- Employed inverse-variance weighted (IVW) method for MR estimates and assessed SNP heterogeneity and pleiotropy.
Main Results:
- Higher appendicular lean mass (ALM) showed a potential protective association with large artery atherosclerosis (LAA) and small vessel disease (SVD).
- Multivariable MR indicated that body fat and physical activity modified the ALM-stroke and ALM-intracerebral hemorrhage (ICH) associations.
- Hypertension and systolic blood pressure (SBP) were identified as significant mediators (>10%) in the ALM-stroke relationship.
Conclusions:
- Lower ALM is associated with an elevated risk of stroke.
- Higher ALM may confer protection against stroke, warranting further investigation.
- Understanding the mechanisms of ALM's protective effects is crucial for stroke prevention strategies.
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