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

摘要

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, andPGR) 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 mutantCYP19(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.