RGD Reference Report - Comparative analysis of SNP in estrogen-metabolizing enzymes for ovarian, endometrial, and breast cancers in Novosibirsk, Russia. - Rat Genome Database

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Comparative analysis of SNP in estrogen-metabolizing enzymes for ovarian, endometrial, and breast cancers in Novosibirsk, Russia.

Authors: Gulyaeva, LF  Mikhailova, ON  PustyInyak, VO  Kim IV, 4TH  Gerasimov, AV  Krasilnikov, SE  Filipenko, ML  Pechkovsky, EV 
Citation: Gulyaeva LF, etal., Adv Exp Med Biol. 2008;617:359-66.
RGD ID: 2301045
Pubmed: PMID:18497059   (View Abstract at PubMed)
DOI: DOI:10.1007/978-0-387-69080-3_34   (Journal Full-text)

We estimated the frequency of CYP1A1, CYP1A2, CYP1B1, CYP19, and SULT1A1 allelic variants in a female population of the Novosibirsk district and their association with the elevated risk of breast (BC), ovarian (OC), and endometrial (EC) cancers. Significant differences (OR = 2.34, p = 0.0002) in the allele distributions for CYP1A1 M1 polymorphism between patients with BC (n = 118) and controls (n = 180) were found. No significant difference in both genotype and allele distributions for CYP1A1 polymorphisms in patients with OC (n = 96) and EC (n = 154) was observed. Remarkable differences in the allele and genotype distributions for CYP1A2*1F polymorphism in patients with BC or OC were found (OR = 0.26, p = 0.0000005 and OR = 0.34, p = 0.00000002). There were no differences for this polymorphism in women with EC. In patients with BC no significant differences were found in genotype and allele distributions for R264C polymorphism in the CYP19 gene. The frequency of a mutant CYP19 heterozygote genotype C/T was higher in patients with OC and EC compared with healthy women (OR = 3.87, p = 0.001 and OR = 3.73, p = 0.0004, respectively). Comparison of allele frequencies revealed a deficiency of an allele A of SULT1A1*2 in patients with OC (OR = 0.64, p = 0.019) compared with controls. No differences were found in the genotype and allele distributions for SULT1A1 polymorphism between patients with BC and EC and controls. In addition, there were no difference in allele and genotype distributions for CYP1B1 119G-->T polymorphism between BC and control. In conclusion, these results support the hypothesis that susceptibility gene alleles of estrogen-metabolizing enzymes may differentially influence risk for woman hormone-dependent cancers.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
breast cancer  IAGP 2301045DNA:SNP::rs4646903 (human)RGD 
breast cancer  IAGP 2301045DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.0000005)RGD 
breast cancer  ISOCYP1A1 (Homo sapiens)2301045; 2301045DNA:SNP::rs4646903 (human)RGD 
breast cancer  ISOCYP1A2 (Homo sapiens)2301045; 2301045 RGD 
endometrial cancer  IAGP 2301045DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004)RGD 
endometrial cancer  IAGP 2301045DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002)RGD 
endometrial cancer  ISOCYP19A1 (Homo sapiens)2301045; 2301045DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.0004)RGD 
endometrial cancer  ISOCYP1A2 (Homo sapiens)2301045; 2301045 RGD 
Endometrial Neoplasms no_associationIAGP 2301045DNA:SNP::no difference in allele distribution or genotype between patients and controlsRGD 
Endometrial Neoplasms no_associationISOSULT1A1 (Homo sapiens)2301045; 2301045 RGD 
ovarian cancer  IAGP 2301045DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.001)RGD 
ovarian cancer  ISOCYP19A1 (Homo sapiens)2301045; 2301045DNA:SNP::increase in frequency of mutant heterozygote C/T (p=0.001)RGD 
Ovarian Neoplasms  IAGP 2301045DNA:SNP::reduced frequency of SULT1A1*2 A allele in patientsRGD 
Ovarian Neoplasms  ISOSULT1A1 (Homo sapiens)2301045; 2301045 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cyp19a1  (cytochrome P450, family 19, subfamily a, polypeptide 1)
Cyp1a1  (cytochrome P450, family 1, subfamily a, polypeptide 1)
Cyp1a2  (cytochrome P450, family 1, subfamily a, polypeptide 2)
Sult1a1  (sulfotransferase family 1A member 1)

Genes (Mus musculus)
Cyp19a1  (cytochrome P450, family 19, subfamily a, polypeptide 1)
Cyp1a1  (cytochrome P450, family 1, subfamily a, polypeptide 1)
Cyp1a2  (cytochrome P450, family 1, subfamily a, polypeptide 2)
Sult1a1  (sulfotransferase family 1A, phenol-preferring, member 1)

Genes (Homo sapiens)
CYP19A1  (cytochrome P450 family 19 subfamily A member 1)
CYP1A1  (cytochrome P450 family 1 subfamily A member 1)
CYP1A2  (cytochrome P450 family 1 subfamily A member 2)
SULT1A1  (sulfotransferase family 1A member 1)


Additional Information