Pemmaraju Sirisha, Amidyala Lingaiah, Vottery Ravindra, Nallari Pratibha, Akka Jyothy, Ananthapur Venkateshwari
Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, India.
Yashoda Hospitals, Secunderabad, India.
Cancer Treat Res Commun. 2018;14:13-16. doi: 10.1016/j.ctarc.2017.11.001. Epub 2017 Nov 4.
Ovarian cancer is the most common cancer among women worldwide. Estrogen plays an important role in follicle formation and maturation of oocyte via its receptor (ER). It has a special interest as their protein levels are always elevated in premalignant and malignant cancer cells and are over expressed in different tumors with a favourable prognosis. The present study is aimed to evaluate the role of ER-α gene ( rs2234693) PVUII polymorphism in the etiology of ovarian cancer.
A total of eighty clinically and histopathologically confirmed ovarian cancer patients and 100 healthy control subjects were included in the present study. Demographic details along with blood samples were collected from all the subjects. DNA was extracted, amplified and genotyped for ER-α gene PVUII polymorphism by PCR-RFLP method followed by agarose gel electrophoresis. Statistical methods were applied to test for the significance of the results.
The genotype frequencies revealed 50% of wild homozygotes (PP), 33.75% of heterozygotes (Pp), 16.25% of mutant homozygotes (pp) in the diseased group and 79% of wild homozygotes (PP), 12% of heterozygotes (Pp), 9% of mutant homozygotes (pp) in the control group. There is a significant increase of p allele in patients compared to controls.
The present study thus indicates the possible association of PVUII polymorphism of ER-α gene in the etiology of ovarian cancer.
卵巢癌是全球女性中最常见的癌症。雌激素通过其受体（ER）在卵泡形成和卵母细胞成熟过程中发挥重要作用。由于其蛋白水平在癌前和恶性癌细胞中总是升高，且在预后良好的不同肿瘤中过度表达，因此备受关注。本研究旨在评估ER-α基因（rs2234693）PVUII多态性在卵巢癌病因学中的作用。
本研究共纳入80例经临床和组织病理学确诊的卵巢癌患者及100例健康对照者。收集所有受试者的人口统计学细节及血样。采用PCR-RFLP方法，随后进行琼脂糖凝胶电泳，提取DNA、扩增并对ER-α基因PVUII多态性进行基因分型。应用统计方法检验结果的显著性。
患病组基因型频率显示50%为野生纯合子（PP），33.75%为杂合子（Pp），16.25%为突变纯合子（pp）；对照组中79%为野生纯合子（PP），12%为杂合子（Pp），9%为突变纯合子（pp）。与对照组相比，患者中p等位基因显著增加。
本研究表明ER-α基因PVUII多态性可能与卵巢癌病因有关。
