Variant "TTN:rs540059730"
Search result: 1 record
Variant information
Gene:
TTN 
Variant:
TTN:rs540059730 
dbSNP ID:
rs540059730  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Dilated Cardiomyopathy (DOID_12930)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Patients with TTNTV (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNTV (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P=0.002). 
    Effect:
    TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.
    Reference:
    PMID28822653
    Title:
    Titin-Truncating Variants Increase the Risk of Cardiovascular Death in Patients With Hypertrophic Cardiomyopathy.
    Species studied:
    Human
    Abstract:
    BACKGROUND:Titin-truncating variants (TTNtv) have been detected in a variety of cardiomyopathies and represent the most common cause of dilated cardiomyopathy. However, their significance in hypertrophic cardiomyopathy (HCM) is still unclear. METHODS:The titin gene (TTN) was sequenced for truncating variants in a cohort of 529 Chinese patients with HCM and 307 healthy controls. Baseline and follow-up clinical data (for 4.7 ± 3.2 years) from these patients were obtained. RESULTS:We identified 13 and 8 TTNtv in patients with HCM (13 of 529 [2.5%]) and controls (8 of 307 [2.6%]), respectively. The prevalence of TTNtv in patients with HCM and in healthy controls was comparable (P = 0.895). There were no significant differences in baseline characteristics between patients with and those without TTNtv. However, during follow-up, patients with TTNtv (3 of 13 [23.1%]) were more likely to experience cardiovascular death compared with those without TTNtv (39 of 516 [7.6%]) [adjusted hazard ratio, 6.88; 95% confidence interval, 2.04-23.20; P = 0.002). CONCLUSIONS:Our study suggests that TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death.