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Updated: May 4, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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フォスフォリパゼD3遺伝子の希少なコーディング変異は,アルツハイマー病のリスクを伴う

Carlos Cruchaga1,2, Celeste M Karch1,2, Sheng Chih Jin1

  • 1Department of Psychiatry, Washington University, St. Louis, MO, USA.

Nature
|December 17, 2013
PubMed
まとめ

PLD3遺伝子の珍しい変異は,遅発アルツハイマー病 (LOAD) のリスクを大幅に増加させます. この発見は,アルツハイマー病の病理学とAPP処理におけるPLD3の役割を強調しています.

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