title: Itai-itai disease is not associated with polymorphisms of the estrogen receptor alpha gene.
abstract: 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 predominantly affects postmenopausal women with a history of multiple childbirths. Recently, it has been reported that polymorphisms of the estrogen receptor alpha (ERalpha) gene are associated with postmenopausal reduction of bone mineral density in Japanese women. However, estrogen receptors have never been studied in itai-itai disease. In this study, we examined the genotypic distributions of PvuII and XbaI restriction fragment length polymorphisms (RFLPs) of the ERalpha gene in patients with itai-itai disease and compared them with those of control subjects. The RFLPs are represented here as Pp (PvuII) and Xx (XbaI); the capital and small letters signify the absence and presence of restriction sites, respectively. The genotypic distributions 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 observed for the control groups, hence no pattern of genotypic distribution was observed that could be related to itai-itai disease. We conclude that RFLPs of the ERalpha gene may not be associated with itai-itai disease.
authors.affiliation: Department of Public Health, Kobe University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nishio
authors.forename: C
authors.initials: C
authors.lastname: Hayashi
authors.forename: M J
authors.initials: MJ
authors.lastname: Lee
authors.forename: H
authors.initials: H
authors.lastname: Ayaki
authors.forename: R
authors.initials: R
authors.lastname: Yamamoto
authors.forename: R
authors.initials: R
authors.lastname: Ninomiya
authors.forename: N
authors.initials: N
authors.lastname: Koizumi
authors.forename: K
authors.initials: K
authors.lastname: Sumino
mesh_terms: D000328:Adult; D002105:Cadmium Poisoning / Q000235:genetics*; D004247:DNA / Q000235:genetics; D017931:DNA Primers; D005260:Female; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011960:Receptors, Estrogen / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D011960:Receptors, Estrogen; D004247:DNA