PT  - JOURNAL ARTICLE
AU  - Ting Wang
AU  - Wenqing Sun
AU  - Hongyan Wu
AU  - Yuxin Cheng
AU  - Yan Li
AU  - Fanqing Meng
AU  - Chunhui Ni
TI  - Respiratory traits and coal workers’ pneumoconiosis: Mendelian randomisation and association analysis
AID  - 10.1136/oemed-2020-106610
DP  - 2021 Feb 01
TA  - Occupational and Environmental Medicine
PG  - 137--141
VI  - 78
IP  - 2
4099  - http://oem.bmj.com/content/78/2/137.short
4100  - http://oem.bmj.com/content/78/2/137.full
SO  - Occup Environ Med2021 Feb 01; 78
AB  - Objectives Susceptibility loci of idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease were also significantly associated with the predisposition of coal worker’s pneumoconiosis (CWP) in recent studies. However, only a few genes and loci were targeted in previous studies.Methods To systematically evaluate the genetic associations between CWP and other respiratory traits, we reviewed the reported genome-wide association study loci of five respiratory traits and then conducted a Mendelian randomisation study and a two-stage genetic association study.Results Interestingly, we found that for each SD unit, higher lung function was associated with a 66% lower risk of CWP (OR=0.34, 95% CI: 0.15 to 0.77, p=0.010) using conventional Mendelian randomisation analysis (inverse variance weighted method). Moreover, we found susceptibility loci of interstitial lung disease (rs2609255, OR=1.29, p=1.61×10−4) and lung function (rs4651005, OR=1.39, p=1.62×10−3; rs985256, OR=0.73, p=8.24×10−4 and rs6539952, OR=1.28, p=4.32×10−4) were also significantly associated with the risk of CWP. Functional annotation showed these variants were significantly associated with the expression of FAM13A (rs2609255, p=7.4 ×10−4), ANGPTL1 (rs4651005, p=5.4 ×10−7), SPATS2L (rs985256, p=1.1 ×10−5) and RP11-463O9.9 (rs6539952, p=7.1 ×10−6) in normal lung tissues, which were related to autophagy pathway simultaneously according to enrichment analysis.Conclusions These results provided a deeper understanding of the genetic predisposition basis of CWP.