循環器ジャーナル66巻3号

2018年07月発行

特集 肺高血圧症Cutting Edge Ⅱ．肺高血圧症：何が原因か，なぜ原因となるのか？

遺伝的素因

著者： 三谷義英¹

所属機関： ¹三重大学大学院医学系研究科臨床医学系講座小児科学

ページ範囲：P.324 - P.328

Point
・2000年に骨形成蛋白Ⅱ型受容体の遺伝子異常が，肺動脈性肺高血圧（PAH）の主要な遺伝的原因であると報告された．さらにALK1，ENG，SMAD4，SMAD9の遺伝子異常が報告され，TGF-β superfamily経路のPAH発症への重要性が確立した．
・TGF-β系の遺伝子異常を伴わない家族例の全エクソン解析ないし多数例でのゲノムワイド関連解析は，PAHの他の遺伝子異常とcommon variantsの解明に繋がった．
・遺伝子異常の保因者の発症率は約20%と報告され，他の遺伝子異常，環境因子の関与が推測される．今後の研究が，新しい分子機序の解明，治療標的の同定に繋がるかもしれない．

参考文献

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