Variant "CYP1A1:C4887"
Search result: 1 record
Variant information
Gene:
CYP1A1 
Variant:
CYP1A1:C4887 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Dominance(1)  
Modifier effect:
Heterozygote susceptibility(1)  
Detail：
  • Target disease:
    Endometrial Carcinoma (DOID_2871)
    Effect type:
    Dominance 
    Modifier effect:
    Heterozygote susceptibility 
    Evidence:
    OR=6.36, 95% CI: 1.99-26.5, P=0.0004 
    Effect:
    A novel CYP1A1 variant could influence susceptibility to endometrial cancer
    Reference:
    PMID9450474
    Title:
    Germ line polymorphisms in cytochrome-P450 1A1 (C4887 CYP1A1) and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility.
    Species studied:
    Human
    Abstract:
    We describe here a case-control study to identify associations between polymorphisms at the methylenetetrahydrofolate reductase (MTHFR) and cytochrome P-450 1A1 (CYP1A1) genes and susceptibility to endometrial cancer. Accordingly, genotype frequencies in 80 endometrial carcinoma patients were compared with frequencies in 60 controls. DNA analysis suggest a significantly increased endometrial cancer risk with an alanine to valine substitution at nucleotide 677 of MTHFR gene with an odds ratio of 2.8 (95% confidence interval: 1.36-6.14, P = 0.002). Moreover, the tumors from patients with the valine allele were more undifferentiated (P = 0.03). On the other hand, a recently described mutation in exon 7 of CYP1A1 gene (threonine exchanged to asparagine in codon 461) showed a strong association with endometrial cancer risk with an odds ratio of 6.36 (95% confidence interval: 1.99-26.5, P = 0.0004). Thus, this study suggests that polymorphisms at MTHFR and a novel CYP1A1 variant could influence susceptibility to endometrial cancer, although larger sample sizes would be required to corroborate these findings.