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Genome-wide association study of Korean asthmatics: a comparison with UK asthmatics
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  • 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

Corresponding Author:anjin7487@gmail.com

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Ah Ra Do
Seoul National University
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Hae Yeon Kang
Seoul National University Hospital Healthcare System Gangnam Center
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Woo Jin Kim
Kangwon National University
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Sanghun Lee
Dankook University
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Ji-Hyang Lee
Asan Medical Center
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Woo-Jung Song
Asan Medical Center, University of Ulsan College of Medicine
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Hyouk-Soo Kwon
Asan Medical Center, University of Ulsan College of Medicine
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You-Sook Cho
Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
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Hee-Bom Moon
Asan Medical Center, University of Ulsan
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Sile Hu
Imperial College London
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Ian Adcock
Imperial College London
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Kian Fan Chung
Imperial College
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Sungho Won
Seoul National University
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Tae-Bum Kim
Asan Medical Center
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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.
2021Published in Allergy, Asthma & Immunology Research volume 13 issue 4 on pages 609. 10.4168/aair.2021.13.4.609