Variant "TNF:c.-1037C>T"
Search result: 1 record
Variant information
Gene:
TNF 
Variant:
TNF:c.-1037C>T 
Genomic location:
chr6:31542482(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000594.3:c.-1037C>T
protein_coding NM_000595.3:c.*1012C>T
protein_coding NM_001159740.2:c.*1012C>T
LTA-TNF:n.31542482C>T
dbSNP ID:
GWAS trait:
no data 
Modifier statisitcs
Record:
Disorder:
Reference:
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail:
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.0005, OR=7.06, 95% CI:3.71-13.45 
    Effect:
    TNFα -857T allele and GG genotype of TNFR2 +587 were more frequent in CF patients compared to healthy controls and hence, they showed an association with CF and severe pulmonary phenotype in Iranian patients.
    Reference:
    Title:
    TNFα -857 C/T and TNFR2 +587 T/G polymorphisms are associated with cystic fibrosis in Iranian patients.
    Species studied:
    Human
    Abstract:
    Identification of modifier genes influencing phenotype of cystic fibrosis (CF) patients has become a challenge in CF pathophysiology, prognostic estimations and development of new therapeutic strategies. The aim of this study was to explore the association between four genetic polymorphisms of three modifier genes with CF, by comparing their alleles, genotypes and haplotype frequencies in patients and controls. In this favor, two regulatory polymorphic loci in TNFα promoter (-857C/T, rs1799724 and -238A/G, rs361525) and two functional polymorphic loci in TNFR1 (+36A/G, rs767455) and TNFR2 (+587T/G, rs1061622) were genotyped in 70 patients and 79 controls, using PCR-RFLP. Clinical pulmonary data were also recorded from all studied patients. Results indicated that an association was observed between both T allele and CT/TT genotypes of TNFα (P=0.0005, OR=7.06, 95% CI=3.71-13.45) with CF under dominant model of inheritance. GG genotype of TNFR2 +587 (P=0.0005, OR=4.92, 95%CI=2.34-10.34) was significantly associated with CF using recessive model. Consistently, more severe pulmonary disorder was found for patients carrying either T dominant allele of TNFα -857 or GG genotype of TNFR2 +587 polymorphic sites. Despite an association of A-T and G-T haplotypes with CF, no significant association was found between these haplotypes and clinical parameters of CF. Overall, TNFα -857T allele and GG genotype of TNFR2 +587 were more frequent in CF patients compared to healthy controls and hence, they showed an association with CF and severe pulmonary phenotype in Iranian patients.