An estrogen receptor genetic polymorphism and the risk of primary and secondary recurrent spontaneous abortion.

OBJECTIVE: A case-control study was undertaken to assess the association between an estrogen receptor gene variant and the risk of recurrent spontaneous abortions. STUDY DESIGN: The frequency of the estrogen receptor gene variant in blood lymphocyte deoxyribonucleic acid and other selected maternal characteristics was compared among 60 primary recurrent aborters, 61 secondary recurrent aborters, and 43 women who had had at least two live births but no spontaneous abortions. RESULTS: No association was evident between the estrogen receptor gene variant and the risk of either primary or secondary recurrent abortion. There were data suggesting that primary recurrent aborters in particular were more likely to report a family history of recurrent abortion and a family history of breast cancer. CONCLUSIONS: These findings indicate that the estrogen receptor polymorphism is not a genetic marker for recurrent spontaneous abortions. Therefore, as suggested by previous investigations, this polymorphism appears to be a marker for breast cancer risk only among the subgroups who have had a history of repeated abortions.

An estrogen receptor genetic polymorphism and a history of spontaneous abortion--correlation in women with estrogen receptor positive breast cancer but not in women with estrogen receptor negative breast cancer or in women without cancer.

We previously identified a polymorphism in the human estrogen receptor gene. In a preliminary study on women with estrogen receptor positive (ER+) breast tumors, we found that the presence of the rarer of the two alleles, the B' allele, is correlated with a history of spontaneous abortion. Because that study evaluated only women with estrogen receptor positive (ER+) breast cancer, it was unknown whether the observed correlation was restricted to the cancer group or was independent of breast cancer. We have now extended our analysis to include not only additional women with ER+ breast cancer, but also those with estrogen receptor negative (ER-) breast cancer and women without cancer. Results of the current study continue to show an association between the B' allele and a history of spontaneous abortion in the ER+ breast cancer group. There was no such correlation either in the ER- breast cancer group or in the group without cancer. Also, we continue to observe, in the ER+ breast cancer group, a significantly higher concentration of ER protein in tumors from homozygous wild type women (genotype BB), than in the tumors from women who are heterozygous for the rarer allele (genotype BB'). We conclude that the combination of spontaneous abortion and the BB' ER genotype may be a marker for breast cancer susceptibility.