Characterization of a COPD-Associated

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Tác giả: Peter J Castaldi, Michael H Cho, Craig P Hersh, Alain Laederach, Tao Liu, Silvia B V Ramos, Scott H Randell, Aabida Saferali, Lynn M Schnapp, Gloria M Sheynkman, Edwin K Silverman, Christopher Vollmers, Anastacia N Wienecke, Carole L Wilson, Zhonghui Xu, Xiaobo Zhou

Ngôn ngữ: eng

Ký hiệu phân loại: 338.9 Economic development and growth

Thông tin xuất bản: England : The European respiratory journal , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 235029

BACKGROUND: Identification of COPD disease-causing genes is an important tool for understanding why COPD develops, who is at highest COPD risk, and how new COPD treatments can be developed. Previous COPD genetic studies have identified a highly significant genetic association near nephronectin METHODS: Splicing quantitative trait locus analysis (sQTL) was performed to identify common genetic variants that alter RNA splicing in lung tissues. These lung sQTL signals were compared to COPD genetic association results near the RESULTS: An established COPD genetic risk variant, rs34712979_A, creates a cryptic splice acceptor site that causes four separate splicing changes im CONCLUSION: Genetic variants in the nephronectin (
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