2022 Fiscal Year Final Research Report
Exploring the Genetic Causes of Preeclampsia Using Family Genome Information in a Large Cohort
Project/Area Number |
18H02941
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Research Category |
Grant-in-Aid for Scientific Research (B)
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Allocation Type | Single-year Grants |
Section | 一般 |
Review Section |
Basic Section 56040:Obstetrics and gynecology-related
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Research Institution | Tohoku University |
Principal Investigator |
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Project Period (FY) |
2018-04-01 – 2022-03-31
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Keywords | 妊娠高血圧腎症 |
Outline of Final Research Achievements |
We proceeded with the Japonica array analysis of the trio of pregnant women, husbands, and children (152 pairs with gestational hypertension nephropathy and 280 pairs of controls). In addition, genome-wide association analysis considering trio interaction revealed genomic variants that are presumed to be involved in the pathogenesis, and we proceeded with validation analysis. In addition, genome analysis including imputation is underway to conduct more complex genome-wide association analysis using trio family tree information. We have completed metabolomic analysis using NMR and mass spectrography of plasma collected from the cohort study (593 cases of preeclampsia and 509 controls), and are constructing prediction equations using information from questionnaires and other sources. Furthermore, integrated analysis is underway to unravel the genetic-environmental interactions by combining genomic and plasma metabolomic information.
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Free Research Field |
周産期医学
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Academic Significance and Societal Importance of the Research Achievements |
妊娠高血圧腎症は、遺伝・環境因子が複雑に関与する多因子疾患であるが、いまだ明確な原因は不明である 。我が国においては、本疾患に関連する大規模なゲノムワイド関連解析の報告はなく、遺伝的要因の究明が求められている。 本研究は、大規模出生三世代コホートの検体を用い、日本人のゲノム解析に最適化されたジャポニカアレイによる、妊産婦・父・児のゲノムワイド関連解析を行った。 具体的には、これまで報告された疾患感受性遺伝子変異の日本人PEにおける妥当性の検証を行い、さらに新規のゲノム変異を同定し、これらのゲノム変異情報に、疾患に有意に関連する疫学的要因等を加えることで、超高次元疾患発症予測式を構築中である。
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