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A Functional Single-Nucleotide Polymorphism in the TRPC6 Gene Promoter Associated With Idiopathic Pulmonary Arterial Hypertension
Author(s) -
Ying Yu,
Steve H. Keller,
Carmelle V. Remillard,
Olga Safrina,
Ann E. Nicholson,
Shenyuan L. Zhang,
Weihua Jiang,
Nivruthi Vangala,
Judd W. Landsberg,
Jian-Ying Wang,
Patricia A. Thistlethwaite,
Richard N. Channick,
Ivan M. Robbins,
James E. Loyd,
Hossein A. Ghofrani,
Friedrich Grimminger,
Ralph T. Schermuly,
Michael D. Cahalan,
Lewis J. Rubin,
Jason X.J. Yuan
Publication year - 2009
Publication title -
circulation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 7.795
H-Index - 607
eISSN - 1524-4539
pISSN - 0009-7322
DOI - 10.1161/circulationaha.108.782458
Subject(s) - single nucleotide polymorphism , snp , allele , trpc6 , downregulation and upregulation , medicine , endocrinology , genotype , microbiology and biotechnology , gene , biology , genetics , receptor , transient receptor potential channel
Excessive proliferation of pulmonary artery smooth muscle cells (PASMCs) plays an important role in the development of idiopathic pulmonary arterial hypertension (IPAH), whereas a rise in cytosolic Ca2+ concentration triggers PASMC contraction and stimulates PASMC proliferation. Recently, we demonstrated that upregulation of the TRPC6 channel contributes to proliferation of PASMCs isolated from IPAH patients. This study sought to identify single-nucleotide polymorphisms (SNPs) in the TRPC6 gene promoter that are associated with IPAH and have functional significance in regulating TRPC6 activity in PASMCs.

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