Comparative Analysis of SNP in Estrogen-metabolizing Enzymes for Ovarian, Endometrial, and Breast Cancers in Novosibirsk, Russia

Abstract

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.

Three polymorphisms in cytochrome P450 1B1 (CYP1B1) gene and breast cancer risk: a meta-analysis

“…the Caucasian part of the study by Gulyaeva et al [36]. After the exclusion of this study the results remained practically unchanged, as the associations still did not reach significance.…”

“…Concerning Arg48Gly polymorphism, 10 studies were eligible (11,321 cases and 13,379 controls) [9,22,23,[28][29][30][31][32][33]; 11 studies were eligible for Ala119Ser (10,715 cases and 11,678 controls) [9,22,23,28,31,[34][35][36][37][38]; 12 cases were eligible regarding Asn453Ser (11,630 cases and 14,053 controls) [22, 29-32, 35, 39-43].…”

Genetic polymorphisms in estrogen metabolism and breast cancer risk in case–control studies in Japanese, Japanese Brazilians and non-Japanese Brazilians

“…14,[30][31][32][33] Findings have been inconsistent, however, showing no association for Chinese, 30 Caucasian 31 or American-African women; 31 a positive association for Russian women; 33 and an inverse association for a multiethnic group (Multiethnic Cohort Study). 14 In the present study, we found a significantly decreased risk among NJB with the CC genotype of CYP1A2*1F.…”

SULT1A1 R213H polymorphism and breast cancer risk: a meta-analysis based on 8,454 cases and 11,800 controls

“…They did not find the significant association of SULT1A1 R213H polymorphism with breast cancer in the Europeans. Results of many subsequent epidemiologic studies were different or even contradictory [10][11][12][13][14][15][16][17][18][19][20][21][22][23]. The purpose of this meta-analysis study was to access the overall relationship between the SULT1A1 R213H polymorphism and breast cancer risk from the published case-control studies and to quantify the potential between-study heterogeneity.…”