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.