loading page

Genome-wide association study of Korean asthmatics: a comparison with UK asthmatics
  • +12
  • Jin An,
  • Ah Ra Do,
  • Hae Yeon Kang,
  • Woo Jin Kim,
  • Sanghun Lee,
  • Ji-Hyang Lee,
  • Woo-Jung Song,
  • Hyouk-Soo Kwon,
  • You-Sook Cho,
  • Hee-Bom Moon,
  • Sile Hu,
  • Ian Adcock,
  • Kian Fan Chung,
  • Sungho Won,
  • Tae-Bum Kim
Jin An
Kyung Hee University Hospital at Gangdong
Author Profile
Ah Ra Do
Seoul National University
Author Profile
Hae Yeon Kang
Seoul National University Hospital Healthcare System Gangnam Center
Author Profile
Woo Jin Kim
Kangwon National University
Author Profile
Sanghun Lee
Dankook University
Author Profile
Ji-Hyang Lee
Asan Medical Center
Author Profile
Woo-Jung Song
Asan Medical Center, University of Ulsan College of Medicine
Author Profile
Hyouk-Soo Kwon
Asan Medical Center, University of Ulsan College of Medicine
Author Profile
You-Sook Cho
Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Author Profile
Hee-Bom Moon
Asan Medical Center, University of Ulsan
Author Profile
Sile Hu
Imperial College London
Author Profile
Ian Adcock
Imperial College London
Author Profile
Kian Fan Chung
Imperial College
Author Profile
Sungho Won
Seoul National University
Author Profile
Tae-Bum Kim
Asan Medical Center
Author Profile

Abstract

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.