The association between CYP17A1, CYP19A1, and HSD17B1 gene polymorphisms of estrogen synthesis pathway and ovarian cancer predisposition

Background

Ovarian cancer (OCa) is the most lethal gynecologic cancer in women. Genes involved in the synthesis of estrogen and its polymorphisms might have an influence on OCa. The current study aimed to examine the association of selected polymorphisms of CYP17A1, CYP19A1, and HSD17B1 genes in the South Indian population with OCa. We examined single nucleotide polymorphisms (SNPs) in the CYP17A1 (rs743572), CYP19A1 (rs10046), and HSD17B1 (rs605059) genes in South Indian women with OCa (n = 200) and age-matched controls (n = 200).

Methods

All samples were genotyped using TaqMan allelic discrimination assay for all three polymorphisms.

Results

The study revealed significant increase of CC genotype (OR = 3.93; 95%CI = 1.86–8.28; p ≤0.001) and C allele frequency (OR = 1.68; 95%CI = 1.25–2.26; p ≤0.001) of rs743572 polymorphism, and CT genotype (OR = 1.61; 95%CI =1.06–2.43; p = 0.023) and T allele frequency (OR = 1.46; 95%CI =1.07–1.98; p = 0.015) of rs10046 polymorphism in OCa patients in comparison with controls. Furthermore, for rs743572 polymorphism, dominant and recessive models and the dominant model of the rs10046 polymorphism revealed a significant association with OCa risk. Additionally, the rs743572, and rs10046 polymorphisms were associated with clinical characteristics of OCa.

Conclusion

The results of the current study indicated an association between CYP17A1 and CYP19A1 gene polymorphisms and the progression of OCa and the HSD17B1 gene polymorphism did not show any association with OCa risk. However, studies on different populations with a larger number of sample sizes are needed to support the conclusions.