Key result
Rare TRIM63 variants were significantly enriched in white patients with hypertrophic cardiomyopathy compared to controls (4.4% vs 1.1%, P=0.024) and imparted loss-of-function effects.
Case-Control (n=1,392)
Absolute Event Rate: 4.4% vs 1.1%
p-value: p=0.024
No takes yet. Share an insight, caveat, or question.
TRIM63 mutations are identified as a novel genetic cause of human hypertrophic cardiomyopathy, acting through impaired protein degradation.
Chen et al. (2012) conducted a case-control in Hypertrophic cardiomyopathy (n=1,392). TRIM63 rare variants vs. Wild-type TRIM63 (control subjects) was evaluated on Presence of rare TRIM63 variants in the white population (p=0.024). Rare TRIM63 variants were significantly enriched in white patients with hypertrophic cardiomyopathy compared to controls (4.4% vs 1.1%, P=0.024) and imparted loss-of-function effects.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: