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

Abstract

Objective: To explore whether polymorphisms in AhR, ARNT, and AhRR contribute to endometriosis 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 laparoscopy, 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 stage of endometriosis were also examined.

Result(s): The C/G + G/G genotypes at codon 185 of AhRR showed a statistically significant association with risk of endometriosis (adjusted odds ratio, 2.53; 95% confidence interval, 1.16-5.55). Furthermore, a statistically significant trend associated the C/G + G/G genotypes with the clinical stage of endometriosis. No 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.