作者
Guohua Zhu, Amund Gulsvik, Per Bakke, Srinivas Ghatta, Wayne Anderson, David A Lomas, Edwin K Silverman, Sreekumar G Pillai
发表日期
2009/6/1
期刊
Human molecular genetics
卷号
18
期号
11
页码范围
2053-2062
出版商
Oxford University Press
简介
Chronic obstructive pulmonary disease (COPD) is characterized by airway epithelial damage, bronchoconstriction, parenchymal destruction and mucus hypersecretion. Upon activation by a broad range of stimuli, transient receptor potential vanilloid 4 ( TRPV4 ) functions to control airway epithelial cell volume and epithelial and endothelial permeability; it also triggers bronchial smooth muscle contraction and participates in autoregulation of mucociliary transport. These functions of TRPV4 may be important for the regulation of COPD pathogenesis, so TRPV4 is a candidate gene for COPD. We genotyped 20 single nucleotide polymorphisms (SNPs) in TRPV4 , and tested qualitative COPD and quantitative FEV 1 and FEV 1 /(F)VC phenotypes in two independent large populations. The family population had 606 pedigrees …
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