Article
A protective polymorphism in MMP16, improved blood gas levels, and chronic obstructive pulmonary diseases: Family and two population-based studies.
Human mutation - 1 Jul 2020
Zhang Zili, Wang Jian, Zheng Zeguang, Chen Xindong, Xu Guihua, Chen Sifan, Liu Fei, Chen Lingdan, Ding Mingjing, Yuan Liang, Li Yuanyuan, Qian Jing, Xie Xiaohui, Deng Bingxian, Lu Wenju
Abstract excerpt
The aberrant expression of matrix metalloproteinases (MMPs) is known to contribute to the pathogenesis of airway remodeling and alveolar disruption in chronic obstructive pulmonary disease (COPD). In the discovery stage, 11 COPD from five families were subjected to whole-genome sequencing, and 21 common polymorphisms in MMPs and TIMPs were identified. These polymorphisms were genotyped in two subsequent...
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