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Published in: Environmental Health and Preventive Medicine 6/2012

01-11-2012 | Short communication

Lack of an association human dioxin detoxification gene polymorphisms with endometriosis in Japanese women: results of a pilot study

Authors: Yasunari Matsuzaka, Yukie Y. Kikuti, Kenichi Goya, Takahiro Suzuki, Li-yi Cai, Akira Oka, Hidetoshi Inoko, Jerzy K. Kulski, Shun-ichiro Izumi, Minoru Kimura

Published in: Environmental Health and Preventive Medicine | Issue 6/2012

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Abstract

Objectives

Endometriosis is a chronic disease caused by the presence of endometrial tissue in ectopic locations outside the uterus. Chronic exposure to the environmental pollutant dioxin has been correlated with an increased incidence in the development of endometriosis in non-human primates. We have therefore examined whether there is an association between the polymorphisms of ten dioxin detoxification genes and endometriosis in Japanese women.

Methods

This was a pilot study in which 100 patients with endometriosis and 143 controls were enrolled. The prevalence of five microsatellite and 28 single nucleotide polymorphism markers within ten dioxin detoxification genes (AhR, AHRR, ARNT, CYP1A1, CYP2E1, EPHX1, GSTM1, GSTP1, GSTT1, NAT2) was examined.

Results

Taking into account that this analysis was a preliminary study due to its small sample size and genetic power, the results did not show any statistically significant difference between the cases and controls for any of the allele and genotype frequency distributions examined. In addition, no significant associations between the allele/genotype of all polymorphisms and the stage (I–II or III–IV) of endometriosis were observed.

Conclusion

Based on the findings of this pilot study, we conclude the polymorphisms of the ten dioxin detoxification genes analyzed did not contribute to the etiology of endometriosis among our patients.
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Literature
3.
go back to reference Treloar SA, O’Connor DT, O’Connor VM, Martin NG. Genetic influences on endometriosis in an Australian twin sample. Fertil Steril. 1999;71:701–10. Treloar SA, O’Connor DT, O’Connor VM, Martin NG. Genetic influences on endometriosis in an Australian twin sample. Fertil Steril. 1999;71:701–10.
4.
go back to reference Simpson JL, Elias S, Malinak LR, Buttram VC Jr. Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol. 1980;137:327–31.PubMed Simpson JL, Elias S, Malinak LR, Buttram VC Jr. Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol. 1980;137:327–31.PubMed
5.
go back to reference Matalliotakis IM, Arici A, Cakmak H, Goumenou AG, Koumantakis G, Mahutte NG. Familial aggregation of endometriosis in the Yale Series. Arch Gynecol Obstet. 2008;278(6):507–11.PubMedCrossRef Matalliotakis IM, Arici A, Cakmak H, Goumenou AG, Koumantakis G, Mahutte NG. Familial aggregation of endometriosis in the Yale Series. Arch Gynecol Obstet. 2008;278(6):507–11.PubMedCrossRef
6.
go back to reference Swanson HI. DNA binding and protein interactions of the AHR/ARNT heterodimer that facilitate gene activation. Chem Biol Interact. 2002;141:63–76.PubMedCrossRef Swanson HI. DNA binding and protein interactions of the AHR/ARNT heterodimer that facilitate gene activation. Chem Biol Interact. 2002;141:63–76.PubMedCrossRef
7.
go back to reference Haarmann-Stemmann T, Abel J. The arylhydrocarbon receptor repressor (AhRR): structure, expression, and function. Biol Chem. 2006;387:1195–9.PubMedCrossRef Haarmann-Stemmann T, Abel J. The arylhydrocarbon receptor repressor (AhRR): structure, expression, and function. Biol Chem. 2006;387:1195–9.PubMedCrossRef
8.
go back to reference Ohtake F, Takeyama K, Matsumoto T, Kitagawa H, Yamamoto Y, Nohara K, et al. Modulation of oestrogen receptor signalling by association with the activated dioxin receptor. Nature. 2003;423:545–50.PubMedCrossRef Ohtake F, Takeyama K, Matsumoto T, Kitagawa H, Yamamoto Y, Nohara K, et al. Modulation of oestrogen receptor signalling by association with the activated dioxin receptor. Nature. 2003;423:545–50.PubMedCrossRef
9.
go back to reference Rier SE, Martin DC, Bowman RE, Dmowski WP, Becker JL. Endometriosis in rhesus monkeys (Macaca mulatta) following chronic exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin. Fundam Appl Toxicol. 1993;21:433–41.PubMedCrossRef Rier SE, Martin DC, Bowman RE, Dmowski WP, Becker JL. Endometriosis in rhesus monkeys (Macaca mulatta) following chronic exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin. Fundam Appl Toxicol. 1993;21:433–41.PubMedCrossRef
10.
go back to reference Revised American Society for Reproductive Medicine classification of endometriosis: 1996. Fertil Steril. 1997;67:817–21. Revised American Society for Reproductive Medicine classification of endometriosis: 1996. Fertil Steril. 1997;67:817–21.
11.
go back to reference Matsuzaka Y, Makino S, Okamoto K, Oka A, Tsujimura A, Matsumiya K, et al. Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: primary role of DQB1*0604. Tissue Antigens. 2002;60:53–63.PubMedCrossRef Matsuzaka Y, Makino S, Okamoto K, Oka A, Tsujimura A, Matsumiya K, et al. Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: primary role of DQB1*0604. Tissue Antigens. 2002;60:53–63.PubMedCrossRef
12.
go back to reference Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263–5.PubMedCrossRef Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263–5.PubMedCrossRef
13.
go back to reference Zondervan KT, Cardon LR, Kennedy SH. The genetic basis of endometriosis. Curr Opin Obstet Gynecol. 2001;13:309–14.PubMedCrossRef Zondervan KT, Cardon LR, Kennedy SH. The genetic basis of endometriosis. Curr Opin Obstet Gynecol. 2001;13:309–14.PubMedCrossRef
14.
go back to reference Cai LY, Izumi S, Suzuki T, Goya K, Nakamura E, Sugiyama T, et al. Dioxins in ascites and serum of women with endometriosis: a pilot study. Hum Reprod. 2011;26:117–26.PubMedCrossRef Cai LY, Izumi S, Suzuki T, Goya K, Nakamura E, Sugiyama T, et al. Dioxins in ascites and serum of women with endometriosis: a pilot study. Hum Reprod. 2011;26:117–26.PubMedCrossRef
15.
go back to reference Uno S, Zembutsu H, Hirasawa A, Takahashi A, Kubo M, Akahane T, et al. A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. Nat Genet. 2010;42:707–10.PubMedCrossRef Uno S, Zembutsu H, Hirasawa A, Takahashi A, Kubo M, Akahane T, et al. A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. Nat Genet. 2010;42:707–10.PubMedCrossRef
16.
go back to reference Painter JN, Anderson CA, Nyholt DR, Macgregor S, Lin J, Lee SH, et al. Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nat Genet. 2011;43:51–4.PubMedCrossRef Painter JN, Anderson CA, Nyholt DR, Macgregor S, Lin J, Lee SH, et al. Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nat Genet. 2011;43:51–4.PubMedCrossRef
Metadata
Title
Lack of an association human dioxin detoxification gene polymorphisms with endometriosis in Japanese women: results of a pilot study
Authors
Yasunari Matsuzaka
Yukie Y. Kikuti
Kenichi Goya
Takahiro Suzuki
Li-yi Cai
Akira Oka
Hidetoshi Inoko
Jerzy K. Kulski
Shun-ichiro Izumi
Minoru Kimura
Publication date
01-11-2012
Publisher
Springer Japan
Published in
Environmental Health and Preventive Medicine / Issue 6/2012
Print ISSN: 1342-078X
Electronic ISSN: 1347-4715
DOI
https://doi.org/10.1007/s12199-012-0281-y

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