Molecular genetic studies of bipolar disorder and puerperal psychosis at two polymorphisms in the estrogen receptor at gene (ESR 1)

A number of lines of evidence point to the possible involvement of estrogen pathways in the pathophysiology of bipolar disorder in general and puerper al psychosis in particular. There is strong evidence from clinical, follow- up, and genetic studies to support the hypothesis that most cases of puerpe ral psychosis are manifestations of an affective disorder diathesis with a puerperal trigger and that genes influence susceptibility to both diathesis and trigger. The nature of the trigger is unknown but in view of the abrup t onset at a time of major physiological change it is widely believed that biological, probably hormonal, mechanisms are of paramount importance, with estrogen receiving the most attention to date. me have undertaken a case c ontrol association study of bipolar disorder and puerperal psychosis at two known polymorphisms within the estrogen receptor or gene (ESR 1) in a samp le of 219 unrelated bipolar probands and 219 controls. We could exclude the se polymorphisms from an important contribution to susceptibility to bipola r disorder with a high level of confidence. We found no support for the hyp othesis that they contribute specific susceptibility to the puerperal trigg er, but due to the small numbers of puerperal probands (n = 26) no firm con clusions can be drawn regarding their involvement in puerperal psychosis. ( C) 2000 Wiley-Liss, Inc.