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.