Key result
Rare protein-truncating variants are linked to a ~0.25 kg reduction in hand grip strength.
Why the study?
Muscle strength is highly heritable and predictive of multiple adverse health outcomes including mortality, motivating study of rare genetic variation.
Population
340,319 individuals
Comparison
Burden of rare protein-truncating and damaging missense variants
Design
Rare protein-coding variant association study
Authors
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Rare variants may contribute to muscle weakness; leaves open their clinical relevance for sarcopenia or frailty pending replication.
Observational (n=340,319)
Yes
Mean Difference: -0.25
p-value: p=4.05x10^-56
Rare genetic variants, including those in the titin (TTN) locus, significantly impact muscle strength and share mechanisms with brain function and disease.
Huang et al. (2023) conducted an observational in Muscle strength (Hand grip strength) (n=340,319). Rare protein-truncating variants (PTV-burden) in loss-of-function intolerant genes vs. Non-carriers / lower variant burden was evaluated on Hand grip strength (kg) (beta = -0.25 kg, p=4.05x10^-56). The exome-wide burden of rare protein-truncating variants in loss-of-function intolerant genes is significantly associated with a 0.25 kg reduction in hand grip strength.
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