Results
| PMID | 16084889 |
| Gene Name | CYP1A1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | AhRR (C/G + G/G genotypes at codon 185), AhR codon 554 or ARNT codon 189 polymorphisms |
| Population size | 138 |
| Population details | 138 women with or without endometriosis |
| Sex | Female |
| Associated genes | AhRR |
| Other associated phenotypes |
Endometriosis |
|
Fertil Steril. 2005 Aug;84(2):454-8. Tsuchiya, Masaki| Katoh, Takahiko| Motoyama, Hiroshi| Sasaki, Hiroshi| Tsugane, Shoichiro| Ikenoue, Tsuyomu Department of Public Health, Miyazaki Medical College, University of Miyazaki, Miyazaki, Japan. 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. Mesh Terms: Adult| Aryl Hydrocarbon Receptor Nuclear Translocator/*genetics| Basic Helix-Loop-Helix Transcription Factors| Case-Control Studies| Confidence Intervals| Endometriosis/*genetics/metabolism| Female| *Genetic Predisposition to Disease| Humans| Mid |
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