| Item Type |
Article |
| ID |
|
| Preview |
| Image |
|
| Caption |
|
|
| Full text |
KAKEN_19H03787seika.pdf
| Type |
:application/pdf |
Download
|
| Size |
:310.8 KB
|
| Last updated |
:Dec 23, 2024 |
| Downloads |
: 64 |
Total downloads since Dec 23, 2024 : 64
|
|
| Release Date |
|
| Title |
| Title |
オーダーメード医療を目指した思春期特発性側弯症の発症・進行予測モデルの確立
|
| Kana |
オーダーメード イリョウ オ メザシタ シシュンキ トクハツセイ ソクワンショウ ノ ハッショウ・シンコウ ヨソク モデル ノ カクリツ
|
| Romanization |
Ōdāmēdo iryō o mezashita shishunki tokuhatsusei sokuwanshō no hasshō shinkō yosoku moderu no kakuritsu
|
|
| Other Title |
| Title |
Establishment of predictive models for the onset and progression for adolescent idiopathic scoliosis
|
| Kana |
|
| Romanization |
|
|
| Creator |
| Name |
松本, 守雄
 |
| Kana |
マツモト, モリオ
|
| Romanization |
Matsumoto, Morio
|
| Affiliation |
慶應義塾大学・医学部 (信濃町) ・教授
|
| Affiliation (Translated) |
|
| Role |
Research team head
|
| Link |
科研費研究者番号 : 40209656
|
| Name |
渡邉, 航太
|
| Kana |
ワタナベ, コオタ
|
| Romanization |
Watanabe, Kota
|
| Affiliation |
慶應義塾大学・医学部 (信濃町) ・准教授
|
| Affiliation (Translated) |
|
| Role |
Research team member
|
| Link |
科研費研究者番号 : 60317170
|
| Name |
寺尾, 知可史
|
| Kana |
テラオ, チカシ
|
| Romanization |
Terao, Chikashi
|
| Affiliation |
国立研究開発法人理化学研究所・生命医科学研究センター・チームリーダー
|
| Affiliation (Translated) |
|
| Role |
Research team member
|
| Link |
科研費研究者番号 : 60610459
|
|
| Edition |
|
| Place |
|
| Publisher |
|
| Date |
| Issued (from:yyyy) |
2022
|
| Issued (to:yyyy) |
|
| Created (yyyy-mm-dd) |
|
| Updated (yyyy-mm-dd) |
|
| Captured (yyyy-mm-dd) |
|
|
| Physical description |
|
| Source Title |
| Name |
科学研究費補助金研究成果報告書
|
| Name (Translated) |
|
| Volume |
|
| Issue |
|
| Year |
2021
|
| Month |
|
| Start page |
|
| End page |
|
|
| ISSN |
|
| ISBN |
|
| DOI |
|
| URI |
|
| JaLCDOI |
|
| NII Article ID |
|
| Ichushi ID |
|
| Other ID |
|
| Doctoral dissertation |
| Dissertation Number |
|
| Date of granted |
|
| Degree name |
|
| Degree grantor |
|
|
| Abstract |
われわれはこれまでゲノムワイド関連解析(GWAS) により思春期特発性側弯症（側弯症）の発症に関与する疾患感受性遺伝子を3個、進行に関与する遺伝子を2個同定した。しかし、これらの遺伝子で作成した予測モデルのAUCは0.6に過ぎない。本研究では、4000人分の検体を追加してGWASを行い、合計１４個の発症に関連する新たな遺伝子座、さらに疾患感受性遺伝子を同定した。さらにPolygenic risk score(PRS)という手法を用い、さらにBMIの値をモデルに説明変数として組み込みAUROCは0.71となった。重症化のPRSのAUROCは、0.69であり、妥当な結果を示した。
We have identified three disease susceptibility genes and two genes involved in the onset and progression of adolescent idiopathic scoliosis (scoliosis), respectively, by genome-wide association analysis (GWAS). However, the AUC of the prediction model created with these genes was only 0.6. In this study, GWAS was performed on an additional 4,000 samples, and a total of 14 new loci associated with disease onset, as well as disease susceptibility genes, were identified. In addition, the Polygenic risk score (PRS) method was used, and the value of BMI was also incorporated as an explanatory variable in the model, resulting in an AUROC of 0.71. The AUROC of the PRS for severe disease was 0.69, indicating reasonable results.
|
|
| Table of contents |
|
| Keyword |
|
| NDC |
|
| Note |
研究種目 : 基盤研究 (B) (一般)
研究期間 : 2019～2021
課題番号 : 19H03787
研究分野 : 整形外科
|
|
| Language |
|
| Type of resource |
|
| Genre |
|
| Text version |
|
| Related DOI |
|
| Access conditions |
|
| Last modified date |
|
| Creation date |
|
| Registerd by |
|
| History |
| Dec 23, 2024 | | インデックス を変更 |
| Dec 23, 2024 | | Creator Name,Creator Kana,Creator Romanization,Creator Affiliation,Creator Affiliation (Translated),Creator Role,Creator Link,Creator 著者ID,Abstract 内容,Note 注記 を変更 |
|
|
| Index |
|
| Related to |
|
