{"id":"hum0467","version":1,"url":"https://humandbs.dbcls.jp/research/hum0467/v1","datePublished":"2024-10-02","versions":[{"version":1,"datePublished":"2024-10-02"}],"title":{"ja":"骨盤臓器脱発症における遺伝学的背景","en":"Genetic background of the development of pelvic organ prolapse"},"summary":{"aims":{"ja":"骨盤臓器脱発症における遺伝学的背景を明らかにすることで高リスク発症群を見極め、早期の治療介入を可能にする。","en":"To clarify the genetic background behind the onset of pelvic organ prolapse (POP), enable identification of high-risk groups, and provide early therapeutic intervention."},"methods":{"ja":"研究グループ（バイオバンク・ジャパン：BBJ、沖縄バイオインフォメーションバンク：OBi、骨盤臓器脱疾患レジストリ：POP）および、主成分分析に基づく集団（Hondo、Ryukyu）ごとに4つのゲノムワイド関連解析を行い、その結果をメタ解析で統合した。","en":"Samples were devided into four groups (1~4) based on study groups (BioBank Japan: BBJ, Okinawa Bio-information Bank: OBi, and POP registry: POP) and Japanese sub-populations (Hondo, Ryukyu). Associations studies for POP were analyzed in each group and meta-analysis was performed."},"targets":{"ja":"【症例】骨盤臓器脱（pelvic organ prolapse：POP）と診断された女性：771名 （内訳：BBJ 447名 POP 324名）\n【対照】骨盤臓器脱と診断されていない、または健常集団の女性：76,625名（内訳：BBJ 73, 892名 OBi 2,733名 ）","en":"[Case] female participants with a medical history of POP. Total 771 patients (BBJ n = 447, POP n = 324)\n[Control] female participants with no history of POP or general population. Total 76,625 individuals (BBJ: n =73,892, OBi: n = 2,733)"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"ゲノムワイド\n関連","en":"Genome-wide association"},"targets":{"ja":"骨盤臓器脱と診断された女性：771名（BBJ 447名、POP 324名）\n骨盤臓器脱と診断されていない、または健常集団の女性：76,625名（BBJ 73,892名、OBi 2,733名）\n（日本人）","en":"female participants with a medical history of POP: 771 cases\n76,625 control individuals\n(Japanese)"},"typeOfData":{"ja":"SNP-chip","en":"SNP-chip"}},"releaseNote":{"ja":"骨盤臓器脱と診断された女性：771名（内訳：BBJ 447名、POP 324名）および、骨盤臓器脱と診断されていない、または健常集団の女性：76,625名（内訳：BBJ 73,892名、OBi 2,733名）の末梢血から抽出したDNAを用いたSNPアレイデータによるGenotypingデータのGWAS統計データをテキスト形式にて提供する。","en":"DNAs extracted from peripheral blood cells of 771 female patients with a medical history of pelvic organ prolapse (POP) and 76,625 controls were genotyped, imputed, and genome-wide association studies were performed (text file)."},"dataProviders":[{"name":{"ja":"前田 士郎","en":"Shiro Maeda"},"organization":{"name":{"ja":"琉球大学大学院医学研究科 先進ゲノム検査医学講座","en":"Faculty of Medicine, University of the Ryukyus"}}}],"researchProjects":[],"grants":[{"title":{"ja":"骨盤臓器脱及び下部尿路疾患の網羅的情報に基づいた選別化と個別化治療戦略","en":"Stratification of patients with pelvic organ prolapse or lower urinary tract diseases based on comprehensive information and goals of individualized treatment strategies"},"agency":{"ja":"日本医療研究開発機構（AMED） 女性の健康の包括的支援実用化研究事業","en":"Project for Whole Implementation to Support and Ensure the Female Life (Wise), Japan Agency for Medical Research and Development (AMED)"},"grantIds":["JP22gk0210025"]},{"title":{"ja":"沖縄県の健康長寿復興を目指した疾患ゲノム研究とゲノム情報の実装事業","en":"Disease Genome Research and Genomic Medicine for the Health and Longevity of Okinawans"},"agency":{"ja":"沖縄イノベーション・エコシステム共同研究推進事業","en":"Promotion project of innovation-eco system collaborating organization from the Okinawa prefecture"},"grantIds":null}],"relatedPublications":[{"title":"Genome-wide association studies for pelvic organ prolapse in the Japanese population","doi":"https://doi.org/10.1038/s42003-024-06875-2","datasets":["NHA000194"]}],"datasets":["NHA000194"],"controlledAccessUsers":[]}