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A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis.

机译:MUC5B启动子的变异和特发性肺纤维化。

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Idiopathic pulmonary fibrosis is a complex genetic disease; mutations in surfactant protein C, telomerase, and surfactant protein A2 have been identified in familial cases of pulmonary fibrosis. We confirm a recent association with rs35705950 in the putative promoter of MUC5B and sporadic idiopathic pulmonary fibrosis. Patients with idiopathic pulmonary fibrosis were recruited independently from the Simmons Center for Interstitial Lung Diseases at the University of Pittsburgh Medical Center between 2003 and 2010 and from the Interstitial Lung Disease Center at the University of Chicago between 2006 and 2009. Our study was approved by the institutional review boards of both universities, and patients provided written informed consent for participation.
机译:特发性肺纤维化是一种复杂的遗传疾病。在肺纤维化的家族性病例中,已经确定了表面活性剂蛋白C,端粒酶和表面活性剂蛋白A2的突变。我们证实了与rs35705950在MUC5B的假定启动子和偶发性特发性肺纤维化中的近期关联。特发性肺纤维化患者分别于2003年至2010年从匹兹堡大学医学中心的西蒙斯组织间质性肺病中心以及2006年至2009年之间从芝加哥大学的间质性肺病中心独立招募。我们的研究得到了两所大学的机构审查委员会,患者均提供了书面知情同意书。

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