期刊
THORAX
卷 77, 期 8, 页码 829-833出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/thoraxjnl-2021-218577
关键词
Idiopathic pulmonary fibrosis
资金
- GSK/Asthma+Lung UK Chair in Respiratory Research [C17-1]
- Medical Research Council Programme [MR/V00235X/1]
- National Institute of Health/National Heart, Lung and Blood Institute [R56HL158935, K23HL138190]
- Wellcome Trust [221680/Z/20/Z]
- National Institute for Health Research (NIHR) Leicester Biomedical Research Centre
- Wellcome Trust [221680/Z/20/Z] Funding Source: Wellcome Trust
- MRC [MR/V00235X/1] Funding Source: UKRI
This article describes a genome-wide meta-analysis study on the risk of idiopathic pulmonary fibrosis (IPF), identifying five robust novel genetic association signals related to IPF risk.
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.
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