Copy number variations of DEFB gene and the risk of cervical carcinoma

• Project/Area Number: 24791711
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Obstetrics and gynecology
• Research Institution: Nagasaki University
• Principal Investigator: YAMASAKI Kentaro 長崎大学, 医歯(薬)学総合研究科, 研究員 (90380899)
• Project Period (FY): 2012-04-01 – 2014-03-31
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000); Fiscal Year 2012: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: 子宮頸癌 / HPV / DEFB / cytology / 多型 / 遺伝子多型 / ディフェンシン / コピー数多型

Research Abstract

1) DEFB4 CNV was observed in both cervical cancer and healthy control groups, and a lower DEFB4 copy number may be associated with susceptibility to cervical cancer, which is a population at high-risk of persistent oncogenic HPV infection. We found CNV of DEFB4 to be an additional host genetic susceptibility factor of cervical cancer. Further studies are required to determine the reproducibility of our findings in larger patient groups and different study populations.
2) we confirmed that common oncogenic HPV infection is associated with a higher risk of progression of cytological findings 2 years later in Japanese women with NILM or ASC-US; of these infections, HPV-16 was found to have a higher risk of progressive cytological findings than HPV-52. Therefore, the initial HPV-DNA genotype might be a potential predictive marker of later progression of cytological findings in the uterine cervix in Japanese women with NILM or ASC-US.

Research Products

• [Journal Article] Predominantly placenta-expressed mRNAs in maternal plasma as predictive markers for twin-twin transfusion syndrome (2014)
  • Author(s): Miura K, Higashijima A, Miura S, Mishima H, Yamasaki K, Abe S, Hasegawa Y, Kaneuchi M, Yoshida A, Kinoshita A, Yoshiura KI, Masuzaki H
  • Journal Title: Prenat Diagn Volume: 34 Pages: 345-349
• [Journal Article] Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US. (2014)
  • Author(s): Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Yoshida A, Kaneuchi M, Yoshiura K, Masuzaki H.
  • Journal Title: Journal of Human Genetics Volume: 59 (5) Issue: 5 Pages: 251-255
  • DOI: 10.1038/jhg.2014.9
  • Peer Reviewed
• [Journal Article] Aggressive ovarian plasmacytoma resistant to radiation and chemotherapy (2013)
  • Author(s): Yamasaki K, Miura K, Abe K, Masuzaki H
  • Journal Title: ACTA MEDICA NAGASAKIENSIA Volume: 58 Pages: 9-12
  • NAID: 130004451032
• [Journal Article] Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy (2013)
  • Author(s): Higashijima A, Miura K, Mishima H, Kinoshita A, Jo O, Abe S, Hasegawa Y, Miura S, Yamasaki K, Yoshida A, Yoshiura KI, and Masuzaki H
  • Journal Title: Prenatal Diagnosis Volume: 33 Pages: 214-222
• [Journal Article] Copy number variation of the antimicrobial-gene, defensin beta 4 , is associated with susceptibility to cervical cancer (2013)
  • Author(s): Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Sasaki K, Yoshida A, Yoshiura KI, and Masuzaki H
  • Journal Title: J Hum Genet Volume: 58 Pages: 250-253
  • NAID: 10031177218
• [Journal Article] Initial viral load in cases of single human papillomavirus 16 or 52 persistent infection is associated with progression of later cytopathological findings in the uterine cervix (2013)
  • Author(s): Hamaguchi D, Miura K, Abe S, Kinoshita A, Miura S, Yamasaki K, Yoshiura K, Masuzaki H
  • Journal Title: Journal of Medical Virology Volume: 85 Issue: 12 Pages: 2093-2100
  • DOI: 10.1002/jmv.23709
  • Peer Reviewed
• [Journal Article] Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer. (2013)
  • Author(s): Abe, S, Miura, K, Kinoshita, A, Mishima, H, Miura, S, Yamasaki, K, Hasegawa, Y, Higashijima, A, Jo, O, Sasaki, K, Yoshida, A, Yoshiura, KI, Masuzaki.
  • Journal Title: Journal of Human Genetics Volume: 58 Issue: 5 Pages: 250-253
  • DOI: 10.1038/jhg.2013.7
  • Peer Reviewed
• [Journal Article] Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy (2013)
  • Author(s): Higashijima A
  • Journal Title: Prenat Diagn Volume: 33 Issue: 3 Pages: 214-222
  • DOI: 10.1002/pd.4045
  • Peer Reviewed
• [Journal Article] Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders (2011)
  • Author(s): Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura K, and Masuzaki H
  • Journal Title: Journal of Human Genetics Volume: 56 Pages: 296-299
  • NAID: 10030658849
• [Journal Article] Epidemiology of human papillomavirus genotypes in pregnant Japanese women (2011)
  • Author(s): Yamasaki K, Miura K, Shimada T, Miura S, Abe S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura K, and Masuzaki H
  • Journal Title: Journal of Human Genetics Volume: 56 Pages: 313-315
  • NAID: 10030658951
• [Journal Article] Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology (2011)
  • Author(s): Yamasaki K, Miura K, Shimada T, Ikemoto R, Miura S, Murakami M, Sameshima T, Fujishita A, Kotera K, Kinoshita A, Yoshiura K, Masuzaki H
  • Journal Title: Journal of Obstetrics and Gynaecology Research Volume: 37 Pages: 1666-1670
  • NAID: 120006985461
• [Journal Article] Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US
  • Author(s): Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Yoshida A, Kaneuchi M, Yoshiura KI and Masuzaki H
  • Journal Title: Journal of Human Genetics Volume: (in press)
• [Presentation] 胎盤特異的 mRNA に関連すると推定される microRNA の網羅的解析 (2013)
  • Author(s): 三浦清徳, 東島愛, 長谷川ゆり, 阿部修平, 築山尚史, 三浦生子, 山崎健太郎, 吉田敦, 増崎英明
  • Organizer: 第65回日本産婦人科学会学術講演会
  • Place of Presentation: ロイトン札幌, 札幌)クあいち, 名古屋
• [Presentation] 全胞状奇胎特異的 microRNA の同定とその臨床応用に関する検討 (2011)
  • Author(s): 三浦清徳, 山崎健太郎, 平木宏一, 増崎英明
  • Organizer: 第50回日本婦人科腫瘍学会
  • Place of Presentation: 札幌コンベンションセンター, 札幌
• [Presentation] 全胞状奇胎特異的microRNAの網羅的解析 (2011)
  • Author(s): 三浦清徳, 長谷川ゆり, 東島 愛, 城 大空, 阿部修平, 三浦生子, 山崎健太郎, 吉田敦, 吉村秀一郎, 吉浦孝一郎, 増崎英明
  • Organizer: 第63回日本産科婦人科学会
  • Place of Presentation: 大阪国際会議場, 大阪
• [Remarks]
  • URL: http://www.med.nagasaki-u.ac.jp/gyneclgy/
• [Patent(Industrial Property Rights)] 胎盤機能の網羅的かつ非侵襲的評価方法および検査用試薬 (2014)
  • Inventor(s): 三浦清徳, 増崎英明, 新川詔夫, 吉浦孝一郎, 山崎健太郎, 三浦生子
  • Industrial Property Rights Holder: 国立大学法人 長崎大学
  • Industrial Property Rights Type: 特許
  • Acquisition Date: 2014-03-07