Abstract
The aim of the study was to test whether estrogen receptor 1 (ESR1) gene polymorphisms are correlated with the risk of the development of endometriosis in Japanese women, as a preliminary study. To compare allelic frequencies and genotype distributions, a case-control study of 100 affected women and 143 women with no evidence of disease was performed using 10 microsatellite repeat markers and 66 single-nucleotide polymorphisms (SNPs) in the ESR1 gene region. Although our results might be insufficient to detect genetic susceptibility, owing to the small sample size and low genetic power, statistical analysis of the differences in allelic frequency between the cases and controls at each microsatellite locus demonstrated that no microsatellite locus in the ESR1 gene displayed a significant association with the disease when multiple testing was taken into account. Also, there were no statistically significant differences in the SNP allele frequencies and genotypes between the cases and controls when multiple testing was taken into account. The findings in our pilot study suggest that ESR1 polymorphisms do not contribute to endometriosis susceptibility.
Highlights
Endometriosis (MIM131200) is a common gynecological disorder and reportedly affects 6–10% of women of reproductive age [1], with substantial annual health costs [2] and health burdens for individuals [3]
Objectives The aim of the study was to test whether estrogen receptor 1 (ESR1) gene polymorphisms are correlated with the risk of the development of endometriosis in Japanese women, as a preliminary study
Results our results might be insufficient to detect genetic susceptibility, owing to the small sample size and low genetic power, statistical analysis of the differences in allelic frequency between the cases and controls at each microsatellite locus demonstrated that no microsatellite locus in the ESR1 gene displayed a significant association with the disease when multiple testing was taken into account
Summary
Endometriosis (MIM131200) is a common gynecological disorder and reportedly affects 6–10% of women of reproductive age [1], with substantial annual health costs [2] and health burdens for individuals [3]. While the exact etiology and pathogenesis of endometriosis is unclear, the susceptibility to this disease depends on a complex interaction of environmental and genetic factors. As for genetic factor(s) of susceptibility to endometriosis, the incidence of the disease is approximately seven times higher in relatives of women with endometriosis than in those without a family history [6]. A relationship between exposure to dioxin and the risk of developing endometriosis was previously reported in Environ Health Prev Med (2012) 17:423–428 rhesus monkeys. That study indicated that dioxin could induce the development of endometriosis, with the incidence and severity of the condition being proportional to the dioxin dose [7]. There is growing evidence that exposure to environmental contaminants could contribute to the pathogenesis of endometriosis [9, 10]
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