大動脈瘤リスクと体内JAK2変異:多センター,集団ベースの心臓血管スクリーニング研究からの洞察

Lasse M Obel^1,2,3, Joachim S Skovbo^1,2,3, Axel C P Diederichsen^1,4

¹Elite Centre for Individualized Medicine in Arterial Disease (L.M.O., J.S.S., A.C.P.D., L.M.R., J.S.L.), Odense University Hospital, Denmark.

Circulation

|June 4, 2025

まとめ

JAK2 V617F変異は,上昇性大動脈動脈瘤と関連しており,より高い変異性アレル頻度はリスクとサイズの増加と相関しています. この遺伝的要因は,下降または腹動脈動脈瘤と有意に関連していません.

科学分野:

心血管遺伝学
血液学
血管生物学

背景:

JAK2 V617F変異は骨髄増殖性腫瘍の主要な原動力である.
以前の研究では,JAK2 V617Fと大動脈瘤のリスクの増加との関連が示唆されました.

研究の目的:

JAK2 V617F変異アレル頻度 (VAF) と上昇,下降,腹動脈動脈瘤の存在と重度の関連を調査する.

主な方法:

DANCAVAS IとII試験の横断部分研究には8056人の参加者が含まれていた.
参加者はJAK2 V617F配列の変異を検査し,大動脈の直径はコンピュータトモグラフィーを用いて評価された.

主要な成果:

JAK2 V617Fの変異は,上昇性大動脈動脈瘤と有意に関連しており,より高いVAFはリスクと動脈動脈瘤の大きさの増加と相関していました.
JAK2 V617F陰性患者の6. 4%,VAF < 1%の患者では9. 0%,VAF ≥ 1%の患者では16. 5%の患者で上昇性大動脈瘤が観察された (P< 0. 001).
JAK2 V617Fと下降性または腹動脈動脈瘤の間の有意な関連は見つかりませんでした.

結論:

ソマティックJAK2 V617Fの変異は,上昇性大動脈瘤と独立して関連している.
昇動性大動脈瘤のサイズとJAK2 V617F VAFの間に正の相関関係がある.
JAK2 V617Fの臨床スクリーニングは,上昇性大動脈動脈瘤の患者およびその逆の患者では,正当化される可能性があります.

キーワード:

大動脈胸部大動脈動脈瘤クロナル血液形成マススクリーニング

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