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人 の 遺伝子 研究 に 欠け て いる 多様 性
Giorgio Sirugo1, Scott M Williams2, Sarah A Tishkoff3
1Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Cell
|March 23, 2019
まとめ
遺伝的関連の研究はヨーロッパの人口に偏っており,世界的な疾患リスクの正確な予測を制限しています. 病気における遺伝的要因の理解と健康の公平性を改善するために,研究には多様な集団が含まれなければならない.
科学分野:
- 遺伝学
- 人口の健康
- ゲノム流行病学
背景:
- ほとんどの遺伝的関連の研究はヨーロッパの祖先集団に集中しています.
- この狭い焦点は 世界中で病気の遺伝学を理解する上で 重要なバイアスを生み出しています
- 影響は様々なグローバルコミュニティにおける 病気のリスク予測の正確さにも及ぶ.
研究 の 目的:
- 遺伝子関連研究における多様性の増大の必要性を強調する.
- 遺伝子研究における現在の欧州のバイアスがもたらす限界を明らかにする.
- ゲノム研究に世界の人口を広く含めることを提唱する.
主な方法:
- コメントは,遺伝的関連の研究の既存の経験的例をレビューしています.
- 人口の多様性の重要性を強調するために理論的な推論を用いています.
- 分析は,リスク予測モデルに対する不足の影響に焦点を当てています.
主要な成果:
- 遺伝学の研究におけるヨーロッパのバイアスは,非ヨーロッパ人集団の病気リスクの予測を最適化できないか,不正確にする.
- 経験的データと理論的な議論は,多様な集団の必要性を支持しています.
- 遺伝学的な発見の一般化が歪んでいる.
結論:
- 遺伝子関連研究を 多様な集団に拡大することは グローバルな健康の公平性にとって不可欠です
- ゲノム医学の正確性と適用性を向上させるでしょう.
- 病気の遺伝学に関する理解を深めるため 将来の研究は 包摂性を優先しなければなりません
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