G2Cdb::Human Disease report

Disease id
D00000273
Name
Endometriosis
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002163 ARNT
aryl hydrocarbon receptor nuclear translocator
Y (16084889) Polymorphism (P) N

References

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

    Tsuchiya M, Katoh T, Motoyama H, Sasaki H, Tsugane S and Ikenoue T

    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.

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

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

    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.

    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.

    AhRR codon 185 polymorphism was associated with susceptibility to and severity of endometriosis in Japanese women.

    Fertility and sterility 2005;84;2;454-8

Literature (1)

Pubmed - human_disease

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

    Tsuchiya M, Katoh T, Motoyama H, Sasaki H, Tsugane S and Ikenoue T

    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.

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

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

    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.

    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.

    AhRR codon 185 polymorphism was associated with susceptibility to and severity of endometriosis in Japanese women.

    Fertility and sterility 2005;84;2;454-8

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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