TRPC6遺伝子プロモーターの機能的な単核酸多形態は,イディオパシー性肺動脈高血圧と関連している

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Updated: Jun 22, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Ying Yu1, Steve H Keller, Carmelle V Remillard

  • 1Department of Medicine, University of California, San Diego, La Jolla, CA 92093-0725, USA. Ying.Yu@AlconLabs.com

Circulation
|April 22, 2009
PubMed
まとめ

TRPC6遺伝子プロモーターの特定の遺伝的変異である-254C->G単核酸多形態 (SNP) は,イディオパシー性肺動脈高血圧 (IPAH) のリスクの増加と関連しています. このSNPは,核因子-kappaB経由でTRPC6発現を高め,IPAH発現に寄与する.

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