Analysis of the AhR, ARNT, and AhRR gene polymorphisms:: genetic contribution to endometriosis susceptibility and severity

Objective: To explore whether polymorphisms in AhR, ARNT, and AhRR contribute to endometrosis susceptibility and severity. Design: Case control study. Setting: Hospital. Patient(s): One hundred thirty-eight Japanese women with or without endometriosis, diagnosed endoscopically. Intervention(s): Endoscopic laparscopy, with blood samples for genotyping obtained before the laparoscopic examination for genomic DNA extraction from peripheral leukocytes. Main Outcome Measure(s): AhR, ARNT, and AhRR polymorphisms were genotyped using real-time polymerase chain reaction (PCR) analysis. Odds ratios and 95% confidence intervals were calculated for AhR, ARNT, and AhRR genotypes to evaluate the risk of endometriosis. Associations between these polymorphisms and the stage of endometrosis were also examined. Results(s): The C/G + G/G genotypes at codon 185 of AhRR a statistically significant association with risk of endometriosis (adjusted odds ratio, 2.53; 95% confidence interval, 1.16-5.55). Furthermore, a statistically significant association was observed between AhR codon 554 or ARNT codon 189 polymorphisms and endometriosis. Conclusion(s): AhRR codon 185 polymorphism was associated with susceptibility to and severity of endometriosis in Japanese women.