Noriaki Sakuragi

Six polymorphisms on estrogen receptor 1 gene in Japanese, American and German populations

ObjectiveEstrogen receptor 1 (ESR1) plays an important role in various estrogen-related diseases, the incidences of which are significantly lower in the Japanese population than in Western populations. We hypothesize that polymorphisms in exon 1 of the ESR1 gene are associated with a lower incidence of estrogen-related diseases in the Japanese population.MethodsThe genetic distributions of six different ESR1 gene polymorphisms were investigated among 200 Japanese, 200 Americans and 112 Germans using a novel sequence-specific polymerase chain reaction (SSP) technique and direct DNA sequencing.ResultsThe frequencies of variant genotypes on codons 10 and 87 located on exon 1 were significantly lower in the Japanese population than other populations. The polymorphism on codon 87 was not detected in the Japanese population, although other populations showed the homozygous and heterozygous variant genotype on this codon. Other loci, intron 1, and codons 243 and 594 were not different among these populations.ConclusionsThis is the first report to demonstrate the polymorphisms at codons 10 and 87 of ESR1 are significantly low for the Japanese population. Thus, inherited alterations in ESR1 polymorphisms may be associated with changes of estrogen effects and, thereby, may possibly explain inter-population differences in incidences of estrogen-mediated diseases.

CHAPTER 33 – Ovarian Function and Survival of Patients with Cervical Carcinoma Treated with Radical Hysterectomy and Ovarian Transposition

This chapter investigates the long-term prognosis of the physiologic function of transposed ovaries in patients with cervical cancer and the risk factors of impairment of ovarian function after radical hysterectomy (RH), and analyzes the survival of patients treated with RH with ovarian transposition. The hormonal function of transposed ovaries and survival of patients treated with RH and ovarian transposition in cervical carcinoma is followed up prospectively. In the treatment of cervical cancer, gynecologists should make an effort to maintain the quality of life (QOL) of patients by maximally preserving the physiologic functions of the pelvic organs while pursuing a cure of the disease. Bilateral oophorectomy and resultant loss of ovarian function in young patients will cause climacteric-like symptoms, decrease in bone mineral density, hypercholesterolemia, increased risk of ischemic heart disease, and adverse psychological effects. In cervical cancer, especially in squamous cell carcinoma, risk of ovarian metastasis is quite low, while there are several reports of ovarian metastasis in adenocarcinoma of the cervix.