TY - JOUR T1 - Respiratory traits and coal workers’ pneumoconiosis: Mendelian randomisation and association analysis JF - Occupational and Environmental Medicine JO - Occup Environ Med SP - 137 LP - 141 DO - 10.1136/oemed-2020-106610 VL - 78 IS - 2 AU - Ting Wang AU - Wenqing Sun AU - Hongyan Wu AU - Yuxin Cheng AU - Yan Li AU - Fanqing Meng AU - Chunhui Ni Y1 - 2021/02/01 UR - http://oem.bmj.com/content/78/2/137.abstract N2 - 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. ER -