The analysis of genetic features of rare obstetric diseases using whole-exome sequencing and genome-wide association study
| Project/Area Number |
24592494
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Obstetrics and gynecology
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| Research Institution | Kio University (2015)
National Research Institute for Child Health and Development (2012-2014) |
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Principal Investigator |
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| Research Collaborator |
KAMURA Hiromi 国立成育医療研究センター, 研究員
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| Project Period (FY) |
2012-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 周産期疾患 / 一塩基多型 / ゲノム |
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| Outline of Final Research Achievements |
This study aimed to clarify the genetic and epigenetic features of rare obstetric diseases in Japanese using whole-exome sequencing and arrays. A novel homozygous nonsense mutation in NLRP7 (c.584G>A; p.W195X) was identified in recurrent hydatidiform mole of a Japanese patient using whole-exome sequencing. DNA methylation assay demonstrated that some maternally methylated regions in villi obtained from the case failed to methylate completely. The results reveal that the mutation of NLRP7 gene and the loss of DNA methylation in maternally methylated regions contribute to establish the disease. In addition, using a high resolution genotyping array and samples from 411 Japanese women with normal parity without significant complications, we have compiled 1043 copy number variable regions. This resource is useful for reducing the candidate pathogenetic variants of rare obstetric diseases in Japanese.
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Report
(5 results)
Research Products
(27 results)
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[Journal Article] Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.2015
Author(s)
Ito Y, Maehara K, Kaneki E, Matsuoka K, Sugahara N, Miyata T, Kamura H, Yamaguchi Y, Kono A, Nakabayashi K, Migita O, Higashimoto K, Soejima H, Okamoto A, Nakamura H, Kimura T, Wake N, Taniguchi T, Hata K.
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Journal Title
Gynecol Obstet Invest
Volume: Epub ahead of print
Issue: 4
Pages: 1-6
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] Genomic, epigenomic, and transcriptomic profiling towards identifying omics -features and specific biomarkers that distinguish uterine leiomyosarcoma and leiomyoma at molecular levels.2015
Author(s)
Miyata T, Sonoda K, Tomikawa J, Tayama C, Maehara K, Kobayashi H, Wake N, Kato K, Hata K, Nakabayashi K
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Journal Title
Sarcoma
Volume: 2015
Pages: 412068-412068
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Compilation of copy number variants identified in phenotypically normal and parous Japanese women2014
Author(s)
Migita O, Maehara K, Kamura H, Miyakoshi K, Tanaka M, Morokuma S, Fukushima K, Shimamoto T, Saito S, Sago H, Nishihama K, Abe K, Nakabayashi K, Umezawa A, Okamura K, Hata K
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Journal Title
J. Hum. Genet.
Volume: 59
Issue: 6
Pages: 326-331
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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[Presentation] 正常分娩妊婦に観察される遺伝的多様性
Author(s)
右田王介, 前原佳代子, 嶋本富博, 諸隈誠一, 福嶋恒太郎, 和氣徳夫, 左合治彦, 宮越敬, 田中守, 齋藤滋, 秦健一郎
Organizer
日本産婦人科学会
Place of Presentation
札幌
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