Clarification of genetic factors of endometriosis onset using Japanese standard genome reference and Japonica array

2017 Fiscal Year Final Research Report

• Project/Area Number: 15H04978
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Obstetrics and gynecology
• Research Institution: Tohoku University
• Principal Investigator: YAEGASHI Nobuo 東北大学, 大学病院, 教授 (00241597)
• Co-Investigator(Kenkyū-buntansha): 安田 純 東北大学, 東北メディカル・メガバンク機構, 教授 (00281684) ; 高橋 史朗 東北大学, 大学病院, 特任准教授 (20365183) ; 渡部 洋 東北医科薬科大学, 医学部, 教授 (80231009) ; 鈴木 史彦 東北大学, 医学(系)研究科(研究院), 助教 (20400343)
• Co-Investigator(Renkei-kenkyūsha): WATANABE Yoh 東北医科薬科大学, 医学部, 教授 (80231009)
• Research Collaborator: TOKUNAGA Hideki ; SHIBUYA Yusuke
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: 婦人科腫瘍学 / 子宮内膜症 / 卵巣明細胞癌 / 遺伝要因 / 遺伝子異常

Outline of Final Research Achievements

We clarified that increase of copy number of the region containing ZNF217 gene and HNF1B gene region, decrease of copy number of CDKN2A gene and ARID3A gene region in ovarian clear cell carcinoma (OCCC). A significant peak on long arm of chromosome 8 was also observed in OCCC. We confirmed that amplification of three coagulation - related genes in OCCC. We discovered that APOBEC-related base mutation is a characteristic change in OCCC and reported for the first time that base mutation by APOBEC contributes to the development of OCCC.

Free Research Field

産婦人科学