Objective: To investigate the polymorphisms of genes in the steroidogenesis pathway to understand the etiological mechanisms to OC risk in the South Indian population Design: Case-Control Study Setting and Sample: Ovarian cancer cases (200) and healthy individuals (200) from the South Indian population. Methods: All the cases and controls were genotyped for SNPs by using allelic discrimination assay. Main outcome measures: Genetic distribution of SNPs of Steroidogenesis pathway genes in the South Indian population. Results: The observed results for rs743752, the homozygous CC genotype revealed significant association (OR; 1.68; 95%CI, 1.25-2.26; p =<0.05) and the dominant model, recessive model and additive model showed a significant association with an OR of 1.62; 95%CI, 1.09-2.42; p = 0.015, OR of 0.29, 95%CI, 0.14-0.60; p = <0.001 and OR of 1.68, 95%CI, 1.25-2.26); p = <0.001 respectively in cases and controls for OC risk. In rs10046, the heterozygous CT genotype (OR; 1.61; 95%CI 1.06-2.43; p = 0.023), the dominant (OR; 1.65; 95%CI, 1.11-2.45; p = 0.012) and the additive (OR; 1.46; 95%CI, 1.07-1.98; p = 0.015) models were found to be statistically significant. There was no significant association between rs605059 genotypes with ovarian cancer risk. Conclusions: To conclude, results indicated that the polymorphisms of CYP17A1 (rs743572) and CYP19A1 (rs10046) genes are associated with increased risk of ovarian cancer risk in South Indian population.
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