Abstract

To establish a multilocus model for studying the effect of dioxin receptor complex components and detoxification-related enzymes on advanced endometriosis. Six single-nucleotide polymorphisms (SNPs) and two deletion polymorphisms from eight genes (CYP1A1, CYP1B1, GSTM1, GSTT1, GSTP1, AhR, ARNT, and AhRR) were genotyped. In the single SNP analysis, GSTM1 null type and AhRR variant type were associated with a significantly increased risk of endometriosis [odds ratio (OR)=2.38 and 2.45, respectively]. Using multiple SNPs in the logistic regression for covariates, wild-type AhR and mutant AhRR combination was significantly higher in patients (67.8%) than in controls (48.0%) (OR=2.76). On the other hand, mutant AhRR in combination with GSTM1 null genotype was significantly higher in patients (35.5%) than in controls (19.3%) (OR=6.12). Polymorphisms of dioxin receptor complex components and detoxification-related genes jointly confer susceptibility to advanced-stage endometriosis in the Taiwanese Han population.

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