Screening of a panel of steroid-related genes showed polymorphisms of aromatase genes confer susceptibility to advanced stage endometriosis in the Taiwanese Han population

ObjectiveTo establish a multilocus model for studying the effect of steroid-related genes on advanced stage endometriosis.Materials and methodsA total of 121 patients with advanced stage endometriosis and 171 control women were included. Eighteen single-nucleotide polymorphisms (SNPs) from nine genes (HSD17B1, HSD17B2, HSD17B5, HSD17B6, CYP17, CYP19, ERα, ERβ, and PGR) were genotyped using the TaqMan assays. Logistic regression models were used to evaluate the genetic effects, with adjustment for other covariates.ResultsOnly the presence of the mutant CYP19 (aromatase gene) was associated with a significantly increased risk of endometriosis after adjusting for age, BMI, and parity (p = 0.002, OR = 2.69; 95% CI = 1.44–5.02). No association was ascertained between the other investigated SNPs and endometriosis.ConclusionPolymorphisms of the aromatase gene confer susceptibility to advanced stage endometriosis in the Taiwanese Han population.