作者
Imre Noth, Yingze Zhang, Shwu-Fan Ma, Carlos Flores, Mathew Barber, Yong Huang, Steven M Broderick, Michael S Wade, Pirro Hysi, Joseph Scuirba, Thomas J Richards, Brenda M Juan-Guardela, Rekha Vij, MeiLan K Han, Fernando J Martinez, Karl Kossen, Scott D Seiwert, Jason D Christie, Dan Nicolae, Naftali Kaminski, Joe GN Garcia
发表日期
2013/6/1
期刊
The Lancet respiratory medicine
卷号
1
期号
4
页码范围
309-317
出版商
Elsevier
简介
Background
Idiopathic pulmonary fibrosis (IPF) is a devastating disease that probably involves several genetic loci. Several rare genetic variants and one common single nucleotide polymorphism (SNP) of MUC5B have been associated with the disease. Our aim was to identify additional common variants associated with susceptibility and ultimately mortality in IPF.
Methods
First, we did a three-stage genome-wide association study (GWAS): stage one was a discovery GWAS; and stages two and three were independent case-control studies. DNA samples from European-American patients with IPF meeting standard criteria were obtained from several US centres for each stage. Data for European-American control individuals for stage one were gathered from the database of genotypes and phenotypes; additional control individuals were recruited at the University of Pittsburgh to increase the number. For controls in …
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