Variant "TBK1:c.1007A-G(p.H336R)"
Search result: 1 record
Variant information
Gene:
TBK1 
Variant:
TBK1:c.1007A-G(p.H336R) 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk of respiratory failure or death(1)  
Detail：
  • Target disease:
    Amyotrophic Lateral Sclerosis (DOID_332)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk of respiratory failure or death 
    Evidence:
    After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). 
    Effect:
    The presence of the rare variant was associated with the risk of ALS
    Reference:
    PMID28709720
    Title:
    Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.
    Species studied:
    Human
    Abstract:
    Genetic variants are implicated in the development of amyotrophic lateral sclerosis (ALS), but it is unclear whether the burden of rare variants in ALS genes has an effect on survival. We performed whole genome sequencing on 8 familial ALS (FALS) patients with superoxide dismutase 1 (SOD1) mutation and whole exome sequencing on 46 sporadic ALS (SALS) patients living in Hong Kong and found that 67% had at least 1 rare variant in the exons of 40 ALS genes; 22% had 2 or more. Patients with 2 or more rare variants had lower probability of survival than patients with 0 or 1 variant (p = 0.001). After adjusting for other factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p = 0.0098). The presence of the rare variant was associated with the risk of ALS (Odds ratio 1.91, 95% confidence interval 1.03-3.61, p = 0.03), and ALS patients had higher rare variant burden than controls (MB, p = 0.004). Our findings support an oligogenic basis with the burden of rare variants affecting the development and survival of ALS.