ヒトのプロスタサイクリン合成酵素遺伝子と高血圧:スイータ研究

N Iwai¹, T Katsuya, K Ishikawa

¹Departments of Biochemistry (N.I.) and Pharmacology (T.T.), Research Institute, National Cardiovascular Center. niwai@res.ncvc.go.jp

Circulation

|December 1, 1999

まとめ

プロスタサイクリン合成酵素遺伝子の重複ポリモルフィズムは,日本人の血圧上昇と高血圧リスクに関連しています. この遺伝的変異は,遺伝子活動と心血管の健康結果に影響を与えます.

科学分野:

遺伝学遺伝学とは
心血管疾患心血管疾患
分子生物学は分子生物学である.

背景:

プロスタサイクリン (プロスタグランジンI2) は,血管トーンと血小板機能の重要な調節体であり,心臓血管の健康に不可欠です.
プロスタサイクリン合成酵素遺伝子の変異は,心血管疾患のリスクに影響を及ぼすと仮定されています.

研究の目的:

ヒトのプロスタサイクリン合成酵素遺伝子の変異をスクリーニングするために.
特定の遺伝子ポリモルフィズムと血圧調節の関連性を調査する.

主な方法:

ヒトのプロスタサイクリン合成酵素遺伝子の変異のスクリーニング.
ルシフェラゼレポーターアッセイは,特定されたアレルのプロモーター活動を評価するものです.
血圧測定値とゲノタイプを相関させるため,大規模な集団ベースのサンプル (スイート研究) の分析.

主要な成果:

プロスタサイクリン合成酵素の遺伝子プロモーターにおいて,繰り返しポリモルフィズム (9-bp配列の3〜7回の繰り返し) が確認された.
3回と4回繰り返しのアレルは,プロモーター活性が低下したことを示した.
R3R3,R3R4,またはR4R4のゲノタイプを持つ個人は,シストリックおよび脈圧が著しく高かった.
同じ遺伝子型グループでは,高血圧の確率比率が高かった.

結論:

プロスタサイクリン合成酵素遺伝子のリピートポリモルフィズムが,脈圧上昇の潜在的な危険因子である.
この遺伝的変異は,日本人のシストリック高血圧のリスクの増加と関連しています.

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