Jin An

and 14 more

Background Although genome-wide association studies (GWAS) represent the most powerful approach for identifying genes that influence asthma, no studies have established the genetic susceptibility to asthma in the Korean population. To identify genetic variants associated with adult Korean asthmatics and compare them with the significant single nucleotide polymorphisms (SNPs) of UK asthmatics from UK Biobank. Methods Asthmatic patients were defined as having asthma if they were diagnosed by a doctor or taking medications for asthma. Controls were defined as having no asthma and chronic obstructive pulmonary disease. We performed the quality controls, genotype imputation, GWAS, and PrediXcan analysis. In GWAS, P value < 5×10-8 is considered significant. We compared significant SNPs between Korean asthmatics and UK asthmatics. Results A total of 1,386 asthmatic patients and 5,205 controls were analyzed. The SNP rs1770, located near human leukocyte antigen (HLA)-DQB1, was the most significant SNP (P=4.5×10-10). In comparison with 24 SNPs in GWAS of UK asthmatics, 6 SNPs were significant with the same odds ratio direction, including signals related to type 2 inflammation (e.g., IL1RL1, TSLP, and GATA3) and mucus plugging (e.g., MUC5AC). HLA-DQA1 showed an opposite odds ratio direction. HLA-DQB1 gene demonstrated significant imputed mRNA expression levels for lung tissue and whole blood. Conclusions The SNP rs1770 of HLA-DQB1 was the most significant SNP in Korean asthmatics. There were similarities and discrepancies in genetic variants between Korean and UK asthmatics. The GWAS of Korean asthmatics should be replicated and compared with those of GWAS of other ethnicities.