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Environ Health Prev Med (2012) 17:512517 DOI 10.1007/s12199-012-0281-y
SHORT COMMUNICATION
Lack of an association human dioxin detoxication gene polymorphisms with endometriosis in Japanese women: results of a pilot study
Yasunari Matsuzaka Yukie Y. Kikuti Kenichi Goya
Takahiro Suzuki Li-yi Cai Akira Oka Hidetoshi Inoko
Jerzy K. Kulski Shun-ichiro Izumi Minoru Kimura
Received: 15 December 2011 / Accepted: 28 March 2012 / Published online: 1 May 2012 The Japanese Society for Hygiene 2012
AbstractObjectives 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 detoxication 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 ve microsatellite and 28 single nucleotide polymorphism markers within ten dioxin detoxication 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 signicant difference between the cases and controls for any of the allele and genotype frequency distributions examined. In addition, no signicant associations between the allele/ genotype of all polymorphisms and the stage (III or IIIIV) of endometriosis were observed.
Conclusion Based on the ndings of this pilot study, we conclude the polymorphisms of the ten dioxin detoxication genes analyzed did not contribute to the etiology of endometriosis among our patients.
Keywords Endometriosis Dioxin detoxication genes
Single nucleotide polymorphisms Microsatellite
Association study
Introduction
Endometriosis (MIM131200) is an estrogen-dependent inammatory disease that is characterized histologically by the presence of endometrial glands and stroma outside the uterine cavity. Approximately 610 % of women of reproductive age have been reported to suffer from this condition [1, 2]. In a study of the genetic inuence on the risk of endometriosis among twins in Australia, the risk ratio of affected versus population prevalence was 3.58 for monozygotic twins and 2.32 for dizygotic twins [3]. A strong familial occurrence,
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