拡張性心筋病における遺伝子の根拠に基づく評価
Elizabeth Jordan1, Laiken Peterson1, Tomohiko Ai1
1Division of Human Genetics (E.J., L.P., T.A., R.E.H.), Department of Internal Medicine, Wexner Medical Center, The Ohio State University, Columbus.
Circulation
|May 5, 2021
まとめ
拡張性心筋病 (DCM) の遺伝子は複雑で,高い証拠を持つ19の遺伝子が特定されています. 臨床遺伝検査パネルには,限られた証拠を持つ遺伝子が含まれており,DCMの変異を慎重に解釈する必要があります.
科学分野:
- 遺伝学
- 心臓病科
- 分子生物学
背景:
- 拡張性心筋病 (DCM) は,250以上の遺伝子が関与する複雑な遺伝構造を持っています.
- ハイパルトロフィック心筋病症と不律性右心室心筋病症とは異なり,DCMの遺伝子は単一のタンパク質タイプと関連していません.
- DCMにおける遺伝子と疾患の関係を明らかにするために,体系的なキュレーションが行われました.
研究 の 目的:
- 遺伝子とDCMを 関連付けている証拠を 体系的に整理する
- DCMとの関連性の強さに基づいて 遺伝子を分類する
- 臨床遺伝検査パネルにおけるDCM遺伝子の表現を評価する.
主な方法:
- 国際専門家パネルはDCMとの単一性の関係に関する証拠を評価した.
- クリニカル・ゲノム・リソース・フレームワークは,遺伝子疾患の有効性を分類するために適応されました.
- 臨床遺伝子検査パネルでの遺伝子表現が評価されました.
主要な成果:
- キュレートされた51の遺伝子のうち,19の遺伝子は高い証拠を示した (12は決定的/強い,7は中等).
- この19の遺伝子は DCMの遺伝的原因のほんの一部を説明します
- 臨床パネルには 高い証拠を持つ遺伝子も含まれており 証拠が少ない遺伝子も含まれており
結論:
- 19の遺伝子はDCMとの関連性について高い証拠を示しています.
- DCMの遺伝的構造は まだ十分に理解されていません
- 臨床では,証拠が少ない遺伝子の変異に対して注意を払い,高い証拠のDCM遺伝子を優先すべきである.
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