Idiopathic pulmonary fibrosis (IPF) is a chronic lung condition with poor survival times. We previously published a genome-wide meta-analysis of IPF risk across three studies with independent replication of associated variants in two additional studies. To maximise power and to generate more accurate effect size estimates, we performed a genome-wide meta-analysis across all five studies included in the previous IPF risk genome-wide association studies. We used the distribution of effect sizes across the five studies to assess the replicability of the results and identified five robust novel genetic association signals implicating mTOR (mammalian target of rapamycin) signalling, telomere maintenance and spindle assembly genes in IPF risk.

中文翻译：

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五个队列的全基因组关联研究确定了与特发性肺纤维化相关的五个新位点

特发性肺纤维化（IPF）是一种生存时间较短的慢性肺部疾病。我们之前发表了三项研究中 IPF 风险的全基因组荟萃分析，并在另外两项研究中独立复制了相关变异。为了最大限度地提高功效并生成更准确的效应大小估计，我们对之前 IPF 风险全基因组关联研究中包含的所有五项研究进行了全基因组荟萃分析。我们使用五项研究中效应大小的分布来评估结果的可重复性，并确定了五种强有力的新型遗传关联信号，这些信号涉及 IPF 风险中的 mTOR（哺乳动物雷帕霉素靶标）信号、端粒维持和纺锤体组装基因。