CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women

Abstract

Purpose The aim of the study was to evaluate the association of CYP1A1 and CYP1B1 polymorphisms with uterine leiomyoma in Chinese women. Methods We investigated 100 women with clinically diagnosed uterine leiomyoma and 110 healthy normal subjects from Chinese women. The genetic distribution of two CYP1A1 polymorphisms at MspI, Ile462Val and four CYP1B1 polymorphisms at Arg48Gly, Ala119Ser, Leu432Val, Asp449Asp were analyzed by polymerase chain reactionrestriction fragment length polymorphism and DNA sequencing method. Results All the SNPs showed polymorphisms in Chinese women. The genotype A/G and the allele G on Ile462Val was significantly different between uterine leiomyoma patients and controls (P<0.05). Conclusion These results suggest that the genotype of CYP1A1 Ile462Val was associated with the increased risk of uterine leiomyomas in Chinese women.

Association of polymorphisms and haplotypes in the cytochrome P450 1B1 gene with uterine leiomyoma: A case control study

“…However, similar to the findings of the present study, there was no association between polymorphisms of the CYP1B1 gene and UL susceptibility in China. Despite the results of Ye et al (17) in Chinese females, El-Shennawy et al (14) observed an elevated risk of UL in females with the CC genotype of the CYP1B1 Leu432Val (C/G) polymorphism and according to their results this genotype can predict the susceptibility to UL in Egyptian females. Shen et al (27,28) studied the association between the Ala119Ser, Leu432Val and Asp449Asp polymorphisms of the CYP1B1 gene and UL in Han Chinese females.…”

“…Several studies have addressed the association between the genetic polymorphisms of enzymes involved in the estrogen metabolism and the occurrence of UL (14,17,26,27). In 2006, Herr et al (26) reported a significant correlation between CYP2A13 and CYP1A1 SNPs and UL in a Caucasian population.…”

“…In 2006, Herr et al (26) reported a significant correlation between CYP2A13 and CYP1A1 SNPs and UL in a Caucasian population. The genetic distribution of Ile462Val and T6235C polymorphisms of the CYP1A1 gene and Arg48Gly, Ala119Ser, Leu432Val and Asp449Asp polymorphisms of the CYP1B1 gene were studied by Ye et al (17) in Chinese females. The studies reported that only the CYP1A1 Ile462Val polymorphism was associated with the increased risk of UL.…”

“…The association between polymorphisms of estrogen-metabolizing enzyme genes and UL susceptibility have been studied in different populations, however, their results were inconsistent (14,17). Therefore, in the present study the association between Arg368His (rs79204362), Leu432Val (rs1056836), Asp449Asp (rs1056837) and Asn453Ser (rs1800440) polymorphisms of the CYP1B1 gene and UL susceptibility was examined in southeast Iran.…”

A Multicenter Case-Control Study on Screening of Single Nucleotide Polymorphisms in Estrogen-Metabolizing Enzymes and Susceptibility to Uterine Leiomyoma in Han Chinese

“…The most well-studied SNP locus on CYP1A1 is rs1048943, which involves a G→A transversion, leading to the substitution of 462Ile with Val [20]. This transversion is reported to increase the risk of UL development in a Chinese population [21]. In the present study, the frequencies of the mutant genotype G/A+G/C mutation on the rs1048943 locus (34.9%, 19.5%) and G/A+A/A mutation on the rs4646422 locus (34.2%, 15.9%) were higher in UL tissues than that in the control tissues (p < 0.05).…”