Gene "TBP"
Found 2 records
Gene information
Gene symbol:
TBP
See related:
Ensembl: ENSG00000112592, Gene ID: 6908
Additive variants :
Detected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
2 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Altered onset time(2)  
Details：
  • Variant 1:
    TBP:variant
    Gene:
    TBP
    Genomic location:
    dbSNP ID:
    Target disease:
    Spinocerebellar ataxia type 1(DOID_0050954)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    P<0.001 
    Effect:
    The (CAG)n repeat length correlates with age at onset of spinocerebellar ataxia type 1.
    Reference:
    PMID30891880
    Title:
    (CAG)n loci as genetic modifiers of age at onset in patients with spinocerebellar ataxia type 1 from mainland China
    Species studied:
    Human
    Abstract:
    BACKGROUND AND PURPOSE:The expanded repeat length in ATXN1 negatively correlates with age at onset (AAO) of spinocerebellar ataxia type 1 (SCA1) but can explain only part of it, indicating that other factors affect AAO. Some studies have explored the influence of non-causative CAG repeats on the AAO of SCA patients. However, studies on Chinese SCA1 patients regarding candidate modifier factors involved in the variability in AAO are rare. METHODS:In all, 152 Chinese SCA1 patients who were genotyped for ATXN1 and nine other (CAG)n -containing genes were enrolled. Regression analysis was performed to determine the effect of the expanded allele of ATXN1 (linear and quadratic effects) on AAO. Then, different models were used to explore the modulatory effect of nine other (CAG)n -containing genes. RESULTS:Our results verified the negative effect of the expanded allele in ATXN1 by regression analysis. Some (CAG)n -containing genes including TBP, ATN1 and HTT modified AAO with variance ranging from 0.8% to 3.8% and tended to decrease or delay AAO. However, no modifier effects of ATXN2, ATXN3, CACNA1A, ATXN7, KCNN3, RAI1 and normal ATXN1 alleles in trans were detected. CONCLUSION:By using interaction analyses, TBP, ATN1 and HTT were determined to have modifying effects. Our study revealed that differences in modulation may be due to ethnic and geographic diversity across different populations. Furthermore, the variability of AAO was not completely explained by the genetic modifiers examined here, suggesting that other genetic or environmental factors are involved in these diseases.
  • Variant 2:
    TBP:CAGrepeat
    Gene:
    TBP
    Genomic location:
    dbSNP ID:
    Target disease:
    Huntington's Disease(DOID_12858)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered onset time 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Polymorphisms in the genes affect the age at onset of Huntington disease in Tunisian patients
    Reference:
    PMID25254119
    Title:
    Modulation at age of onset in tunisian huntington disease patients: implication of new modifier genes.
    Species studied:
    Human
    Abstract:
    Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene. Many studies have shown that the IT15 interacts with several modifier genes to regulate the age at onset (AO) of HD. Our study aims to investigate the implication of CAG expansion and 9 modifiers in the age at onset variance of 15 HD Tunisian patients and to establish the correlation between these modifiers genes and the AO of this disease. Despite the small number of studied patients, this report consists of the first North African study in Huntington disease patients. Our results approve a specific effect of modifiers genes in each population.