Variant "TCF7L2:g.114758349C>T"
Search result: 1 record
Variant information
Gene:
TCF7L2 
Variant:
TCF7L2:g.114758349C>T 
Genomic location:
chr10:114758349(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001146274.1:c.450+33966C>T
protein_coding NM_001146283.1:c.382-41435C>T
protein_coding NM_001146284.1:c.382-41435C>T
protein_coding NM_001146285.1:c.382-41435C>T
protein_coding NM_001146286.1:c.382-41435C>T
protein_coding NM_001198525.1:c.382-41435C>T
protein_coding NM_001198526.1:c.382-41435C>T
protein_coding NM_001198527.1:c.382-41435C>T
protein_coding NM_001198528.1:c.382-41435C>T
protein_coding NM_001198529.1:c.382-41435C>T
protein_coding NM_001198530.1:c.381+46983C>T
protein_coding NM_001198531.1:c.450+33966C>T
protein_coding NM_030756.4:c.382-41435C>T
show all
dbSNP ID:
rs7903146  
GWAS trait:
physical activity measurement,body mass index,smoking behavior,type II diabetes mellitus,waist circumference,hip circumference,peak insulin response measurement,clinical laboratory measurement,glucose measurement,fasting blood insulin measurement,fasting blood glucose measurement,insulin measurement,metabolic syndrome,A1C measurement,autoantibody measurement,schizophrenia 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    HR=1.75 per allele, 95% CI: 1.3-2.4; P=0.0006 
    Effect:
    A modifier of risk for diabetes in CF.
    Reference:
    PMID19585101
    Title:
    A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis.
    Species studied:
    Human
    Abstract:
    AIMS/HYPOTHESIS:Insulin-requiring diabetes affects 25-50% of young adults with cystic fibrosis (CF). Although the cause of diabetes in CF is unknown, recent heritability studies in CF twins and siblings indicate that genetic modifiers play a substantial role. We sought to assess whether genes conferring risk for diabetes in the general population may play a risk modifying role in CF. METHODS:We tested whether a family history of type 2 diabetes affected diabetes risk in CF patients in 539 families in the CF Twin and Sibling family-based study. A type 2 diabetes susceptibility gene (transcription factor 7-like 2, or TCF7L2) was evaluated for association with diabetes in CF using 998 patients from the family-based study and 802 unrelated CF patients in an independent case-control study. RESULTS:Family history of type 2 diabetes increased the risk of diabetes in CF (OR 3.1; p = 0.0009). A variant in TCF7L2 associated with type 2 diabetes (the T allele at rs7903146) was associated with diabetes in CF in the family study (p = 0.004) and in the case-control study (p = 0.02; combined p = 0.0002). In the family-based study, variation in TCF7L2 increased the risk of diabetes about three-fold (HR 1.75 per allele, 95% CI 1.3-2.4; p = 0.0006), and decreased the mean age at diabetes diagnosis by 7 years. In CF patients not treated with systemic glucocorticoids, the effect of TCF7L2 was even greater (HR 2.9 per allele, 95% CI 1.7-4.9, p = 0.00011). CONCLUSIONS/INTERPRETATION:A genetic variant conferring risk for type 2 diabetes in the general population is a modifier of risk for diabetes in CF.