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  1. ホーム
  2. 人口におけるqtc延長に対するモノジェニックおよびポリジェニックの貢献
  1. ホーム
  2. 人口におけるqtc延長に対するモノジェニックおよびポリジェニックの貢献

関連する実験動画

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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人口におけるQTc延長に対するモノジェニックおよびポリジェニックの貢献

Victor Nauffal1,2, Valerie N Morrill2, Sean J Jurgens2,3,4

  • 1Division of Cardiovascular Medicine (V.N.), Brigham and Women's Hospital, Boston, MA.

Circulation
|April 7, 2022

PubMed で要約を見る

まとめ
この要約は機械生成です。

QT間隔の長さに著しく影響する遺伝的変異は,珍しいものでもあり,一般的なものでもあります. QT延長に関する包括的な遺伝的評価には,多遺伝的および単遺伝的危険因子の両方が含まれます.

キーワード:
QT インターバル長いQTシンドロームモノジェニック多種性心臓発作による突然死

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関連する実験動画

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.1K
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Electrocardiogram Recordings in Anesthetized Mice using Lead II

Published on: June 20, 2020

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科学分野:

  • 心血管遺伝学
  • 人間 の 遺伝子
  • ファルマゲノミクス

背景:

  • QT間隔の持続は,心的リポラライゼーションと一般的な多遺伝子変異に影響されます.
  • QT延長に関する現在の臨床遺伝子検査は,稀な単一遺伝子変異に重点を置いています.
  • 大規模なバイオリポジトリは,集団のQT間隔に対する希少および一般的な変動の結合効果を研究することを可能にします.

研究 の 目的:

  • QT間隔の長さに起因する 希少および一般的な遺伝的変異の共同の寄与を調べる.
  • 多遺伝子リスクスコア (PRS) と稀な変異のQTcとの関連性を評価する.

主な方法:

  • イギリスのバイオバンク参加者84,630人を対象としたQTcの全ゲノム関連研究 (GWAS)
  • 共通変異を用いた多遺伝子リスクスコア (PRS) の作成
  • TOPMedプログラム (26,976人の参加者) 内の10のQT関連遺伝子の希少変異の特定と分析.

主要な成果:

  • GWASは54の独立したQTc位置 (21の新規,12の複製) を特定した.
  • 1,110,494の一般的な変異のPRSは,QTcと強く関連していた (ΔQTc/デシールPRS=1. 4 ms).
  • QTc > 480msの患者の23. 7%は稀な変異または高いPRSを示した.
  • 結論:

    • 集団のQTc期間は,稀な変異体と多遺伝的リスクの両方によって著しく影響を受けます.
    • 多遺伝的リスクはQTcの長さに大きく貢献する.
    • ポリジェニックとモノジェニックのリスク評価を統合することは,QTc延長を理解するために不可欠です.