%0 Journal Article
%T GWAS of smoking behaviour in 165,436 Japanese people reveals seven new loci and shared genetic architecture
%J -
%D 2019
%R https://doi.org/10.1038/s41562-019-0557-y
%X Cigarette smoking is a risk factor for a wide range of human diseases1. To investigate the genetic components associated with smoking behaviours in the Japanese population, we conducted a genome-wide association study of four smoking-related traits using up to 165,436 individuals. In total, we identified seven new loci, including three loci associated with the number of cigarettes per day (EPHX2每CLU, RET and CUX2每ALDH2), three loci associated with smoking initiation (DLC1, CXCL12每TMEM72-AS1 and GALR1每SALL3) and LINC01793每MIR4432HG, associated with the age of smoking initiation. Of these, three loci (LINC01793每MIR4432HG, CXCL12每TMEM72-AS1 and GALR1每SALL3) were found by conducting an additional sex-stratified genome-wide association study. This additional analysis showed heterogeneity of effects between sexes. The cross-sex linkage disequilibrium score regression2,3 analysis also indicated that the genetic component of smoking initiation was significantly different between the sexes. Cross-trait linkage disequilibrium score regression analysis and trait-relevant tissue analysis showed that the number of cigarettes per day has a specific genetic background distinct from those of the other three smoking behaviours. We also report 11 diseases that share genetic basis with smoking behaviours. Although the current study should be carefully considered owing to the lack of replication samples, our findings characterized the genetic architecture of smoking behaviours. Further studies in East Asian populations are warranted to confirm our findings
%U https://www.nature.com/articles/s41562-019-0557-y