Construction of eQTL database during pregnant period

2020 Fiscal Year Final Research Report

• Project/Area Number: 18H03326
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Review Section: Basic Section 62010:Life, health and medical informatics-related
• Research Institution: Kyoto University
• Principal Investigator: nagasaki masao 京都大学, スーパーグローバルコース医学生命系ユニット, 特定教授 (90396862)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: RNAシークエンシング / eQTL / 妊娠期間 / 遺伝要因探索 / 全ゲノムシークエンシング / マタニティログ

Outline of Final Research Achievements

The study has conducted the association study (eQTL analysis) to about 300 Japanese pregnant women between more than ten millions variants from whole genome sequencing and RNA sequencing at three points (two data points in pregnancy and one point in postpartum). The gene-variants relationship was categorized into seven patterns (detected the common relationship in three points and specific in pregnancy or postpartum). Based on this result, the study also constructed an eQTL database of Japanese pregnant women. The database is especially useful for both for domestic and global researchers to understand the mechanisms from pregnancy to postpartum periods.
Parts of the gene-variants relationship in this database matched to the relationship in the diseases associated SNP catalog database, GWASCatalog. The result naturally suggests that the reported disease might also affect the Japanese women via these gene-variant cascades. Thus, the database can be used also for general periods.

Free Research Field

バイオインフォマティクス

Academic Significance and Societal Importance of the Research Achievements

妊娠期間中における妊娠期間毎の一般集団と健常妊婦における日本人のeQTLデータベースを世界で初めて構築した。当データベースは、今後得られてくるRNA転写物、プロテオームなどのマーカーについて個人毎の遺伝的な背景を検討するための貴重な情報資源の１つとなる。さらに、国内外のゲノムワイド関連解析によって得られたデータベースGWASCatalog等で報告されているSNPについて当該データベースに関連したSNPも得られていることから、妊娠期間毎の解析に限らず、日本人の遺伝要因と転写物の発現解析にも幅広く活用できる。