Itai-itai disease is not associated with polymorphisms of the estrogen receptor alpha gene

Itai-itai (or ouch-ouch) disease is a syndrome accompanied by bone mineral disorders, and which may be related to oral cadmium exposure. Itai-itai pre dominantly affects postmenopausal women with a history of multiple childbir ths. Recently, it has been reported that polymorphisms of the estrogen rece ptor alpha (ER alpha) gene are associated with postmenopausal reduction of bone mineral density in Japanese women. However, estrogen receptors have ne ver been studied in itai-itai disease. In this study. we examined the genot ypic distributions of PvuII and XbaI restriction fragment length polymorphi sms (RFLPs) of the ER alpha gene in patients with itai-itai disease and com pared them with those of control subjects. The RFLPs are represented here a s Pp (PvuII) and Xx (XbaI); the capital and small letters signify the absen ce and presence of restriction sites, respectively. The genotypic distribut ions of the patient group were: PP, 14.8%; Pp, 55.6%; pp, 29.6%; XX, 7.4%; Xx, 29.6%, and xx, 63.0%. These distributions were similar to those observe d for the control groups, hence no pattern of genotypic distribution was ob served that could be related to itai-itai disease. We conclude that RFLPs o f the ER alpha gene may not be associated with itai-itai disease.