Gene "TTN"
Found 13 records
Gene information
Gene symbol:
TTN
See related:
Ensembl: ENSG00000155657, Gene ID: 7273
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
13 
Disorder:
2 
Vriant:
13 
Reference:
2 
Effect type:
Expressivity(13)  
Modifier effect:
Risk factor(12) ,Altered onset time(1)  
Details：
  • Variant 1:
    TTN:rs778260223
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    rs778260223
    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.
  • Variant 2:
    TTN:rs754717390
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    rs754717390
    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.
  • Variant 3:
    TTN:rs556524594
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    rs556524594
    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.
  • Variant 4:
    TTN:rs540059730
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    rs540059730
    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.
  • Variant 5:
    TTN:rs376396183
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    rs376396183
    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.
  • Variant 6:
    TTN:rs142095604
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    rs142095604
    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.
  • Variant 7:
    TTN:c.6790+5T>G
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    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.
  • Variant 8:
    TTN:c.18295C>T(p.Leu4855Phe)
    Gene:
    TTN
    Genomic location:
    chr2:179594832
    dbSNP ID:
    rs370109572
    Target disease:
    Cardiomyopathy(DOID_0050700)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Pedigree analysis 
    Effect:
    The age for heart transplantation was substantially less for LMNA:p.K219T/TTN:p.L4855F double heterozygotes than that for LMNA:p.K219T single heterozygotes.
    Reference:
    PMID23463027
    Title:
    Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy.
    Species studied:
    Human
    Abstract:
    Familial dilated cardiomyopathy (DCM) is a heterogeneous disease; although 30 disease genes have been discovered, they explain only no more than half of all cases; in addition, the causes of intra-familial variability in DCM have remained largely unknown. In this study, we exploited the use of whole-exome sequencing (WES) to investigate the causes of clinical variability in an extended family with 14 affected subjects, four of whom showed particular severe manifestations of cardiomyopathy requiring heart transplantation in early adulthood. This analysis, followed by confirmative conventional sequencing, identified the mutation p.K219T in the lamin A/C gene in all 14 affected patients. An additional variant in the gene for titin, p.L4855F, was identified in the severely affected patients. The age for heart transplantation was substantially less for LMNA:p.K219T/TTN:p.L4855F double heterozygotes than that for LMNA:p.K219T single heterozygotes. Myocardial specimens of doubly heterozygote individuals showed increased nuclear length, sarcomeric disorganization, and myonuclear clustering compared with samples from single heterozygotes. In conclusion, our results show that WES can be used for the identification of causal and modifier variants in families with variable manifestations of DCM. In addition, they not only indicate that LMNA and TTN mutational status may be useful in this family for risk stratification in individuals at risk for DCM but also suggest titin as a modifier for DCM.
  • Variant 9:
    TTN:c.16118T-G(p.L5373*)
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    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.
  • Variant 10:
    TTN:c.11186C-G(p.S3729*)
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    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.
  • Variant 11:
    TTN:c.10882G-T(p.E3628*)
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    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.
  • Variant 12:
    TTN:c.106532-2A>G
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    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.
  • Variant 13:
    TTN:c.106374+5C>A
    Gene:
    TTN
    Genomic location:
    dbSNP ID:
    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.