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 endometriosis susceptibility and severity.


METHODS
Case control study.


METHODS
Hospital.


METHODS
One hundred thirty-eight Japanese women with or without endometriosis, diagnosed endoscopically.


METHODS
Endoscopic laparoscopy, with blood samples for genotyping obtained before the laparoscopic examination for genomic DNA extraction from peripheral leukocytes.


METHODS
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.


RESULTS
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.


CONCLUSIONS
AhRR codon 185 polymorphism was associated with susceptibility to and severity of endometriosis in Japanese women.
Tsuchiya
Masaki
M
Department of Public Health, Miyazaki Medical College, University of Miyazaki, Miyazaki, Japan.
Katoh
Takahiko
T
Motoyama
Hiroshi
H
Sasaki
Hiroshi
H
Tsugane
Shoichiro
S
Ikenoue
Tsuyomu
T
D000328:Adult; D051784:Aryl Hydrocarbon Receptor Nuclear Translocator / Q000235:genetics*; D051792:Basic Helix-Loop-Helix Proteins; D016022:Case-Control Studies; D016001:Confidence Intervals; D004715:Endometriosis / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics*; D018336:Receptors, Aryl Hydrocarbon / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D012720:Severity of Illness Index
D051784:Aryl Hydrocarbon Receptor Nuclear Translocator; D051792:Basic Helix-Loop-Helix Proteins; D018336:Receptors, Aryl Hydrocarbon; D012097:Repressor Proteins; C492162:AHRR protein, human